| Author(s) | Link to Publication | Year | Journal |
|---|---|---|---|
| Maleyeff, Lara; Newburger, Jane W; Wypij, David; Thomas, Nina H; Anagnoustou, Evdokia; Brueckner, Martina; Chung, Wendy K; Cleveland, John; Cunningham, Sean; Gelb, Bruce D; Goldmuntz, Elizabeth; Hagler Jr, Donald J; Huang, Hao; King, Eileen; McQuillen, Patrick; Miller, Thomas A; Norris-Brilliant, Ami; Porter Jr, George A; Roberts, Amy E; Grant, P Ellen; Im, Kiho; Morton, Sarah U | A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects | 2024 | Ann Clin Transl Neurol; PMCID: PMC10863927; PMID: 38009418 |
| Kathiriya, Irfan S; Dominguez, Martin H; Rao, Kavitha S; Muncie-Vasic, Jonathon M; Devine, W Patrick; Hu, Kevin M; Hota, Swetansu K; Garay, Bayardo I; Quintero, Diego; Goyal, Piyush; Matthews, Megan N; Thomas, Reuben; Sukonnik, Tatyana; Miguel-Perez, Dario; Winchester, Sarah; Brower, Emily F; Forjaz, André; Wu, Pei-Hsun; Wirtz, Denis; Kiemen, Ashley L; Bruneau, Benoit G | A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects | 2024 | bioRxiv; PMID: 38370632; PMC10871243. |
| Linderman, Michael D; Wallace, Jacob; van der Heyde, Alderik; Wieman, Eliza; Brey, Daniel; Shi, Yiran; Hansen, Peter; Shamsi, Zahra; Liu, Jeremiah; Gelb, Bruce D; Bashir, Ali | NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data | 2024 | Bioinformatics. PMID: 38444093. PMC10955255. |
| Shadrina, Mariya; Kalay, Özem; Demirkaya-Budak, Sinem; LeDuc, Charles A; Chung, Wendy K; Turgut, Deniz; Budak, Gungor; Arslan, Elif; Semenyuk, Vladimir; Davis-Dusenbery, Brandi; Seidman, Christine E; Yost, H Joseph; Jain, Amit; Gelb, Bruce D | Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach | 2024 | bioRxiv. PMID: 38559260. PMC10979888. |
| Gutiérrez-Sacristán, Alba; Makwana,Simran; Dionne, Audrey; Mahanta, Simran; Dyer, Karla J.; Serrano, Faridis, Carmen; Watrin; Pages, Pierre; Mousavi, Sajad; Degala, Anil; Lyons, Jessica; Pillion, Danielle; Zachariasse, Joany M.; Shekerdemian, Lara S; Truong, Dongngan T.; Newburger, Jane W.; Avillach, Paul | Development and validation of an open-source pipeline for automatic population of case report forms from electronic health records: a pediatric multi-center prospective study | 2024 | eBioMedicine. PMC11421260. PMID: 39288532 |
| Vandewouw,Marlee M.; Norris-Brilliant, Ami; Rahman, Anum; Assimopoulos, Stephania; Morton, Sarah U.; Kushki, Azadeh; Cunningham, Sean; King, Eileen; Goldmuntz, Elizabeth; Miller, Thomas A.; Thomas, Nina H.; Adams, Heather R.; Cleveland, John; Cnota, James F.; Grant, P Ellen; Goldberg, Caren S.; Huang, Hao; Li, Jennifer S.; McQuillen, Patrick; Porter, George A.; Roberts, Amy E.; Russell, Mark W.; Seidman, Christine E.; Tivarus, Madalina E.; Chung, Wendy K.; Hagler, Donald J.; Newburger, Jane W. ; Panigrahy, Ashok; Lerch, Jason P.; Gelb, Bruce D.; Anagnostou, Evdokia | Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure | 2024 | NeuroImage |
| Krup, Alexis Leigh; Winchester, Sarah A B; Ranade, Sanjeev S; Agrawal, Ayushi; Devine, W Patrick; Sinha, Tanvi; Choudhary, Krishna; Dominguez, Martin H; Thomas, Reuben; Black, Brian L; Srivastava, Deepak; Bruneau, Benoit G | A Mesp1-dependent developmental breakpoint in transcriptional and epigenomic specification of early cardiac precursors | 2023 | Development |
| Morton, Sarah U; Norris-Brilliant, Ami; Cunningham, Sean; King, Eileen; Goldmuntz, Elizabeth; Brueckner, Martina; Miller, Thomas A; Thomas, Nina H; Liu, Chunyan; Adams, Heather R; Bellinger, David C; Cleveland, John; Cnota, James F; Dale, Anders M; Frommelt, Michele; Gelb, Bruce D; Grant, P Ellen; Goldberg, Caren S; Huang, Hao; Kuperman, Joshua M; Li, Jennifer S; McQuillen, Patrick S; Panigrahy, Ashok; Porter Jr, George A; Roberts, Amy E; Russell, Mark W; Seidman, Christine E; Tivarus, Madalina E; Anagnoustou, Evdokia; Hagler Jr, Donald J; Chung, Wendy K; Newburger, Jane W | Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease | 2023 | JAMA Netw Open. |
| Jaouadi, Hager; Jopling, Chris; Bajolle, Fanny; Théron, Alexis; Faucherre, Adèle; Gerard, Hilla; Al Dybiat, Sarab; Ovaert, Caroline; Bonnet, Damien; Avierinos, Jean-François; Zaffran, Stéphane | Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD | 2023 | J Transl Med. |
| Yu, Mengyao; Aguirre, Matthew; Jia, Meiwen; Gjoni, Ketrin; Cordova-Palomera, Aldo; Munger, Chad; Amgalan, Dulguun; Rosa Ma, X; Pereira, Alexandre; Tcheandjieu, Catherine; Seidman, Christine; Seidman, Jonathan; Tristani-Firouzi, Martin; Chung, Wendy; Goldmuntz, Elizabeth; Srivastava, Deepak; Loos, Ruth J F; Chami, Nathalie; Cordell, Heather; DreÃen, Martina; Mueller-Myhsok, Bertram; Lahm, Harald; Krane, Markus; Pollard, Katherine S; Engreitz, Jesse M; Gagliano Taliun, Sarah A; Gelb, Bruce D; Priest, James R | Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes | 2023 | Circ Genom Precis Med |
| Griffin, Emily L; Nees, Shannon N; Morton, Sarah U; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rachel; King, Eileen C; Cnota, James F; Kim, Richard W; Porter Jr, George A; Brueckner, Martina; Seidman, Christine E; Shen, Yufeng; Gelb, Bruce D; Goldmuntz, Elizabeth; Newburger, Jane W; Roberts, Amy E; Chung, Wendy K | Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study | 2023 | Circ Genom Precis Med |
| Kathiriya, Irfan S; Dominguez, Martin H; Rao, Kavitha S; Muncie-Vasic, Jonathon M; Devine, W Patrick; Hu, Kevin M; Hota, Swetansu K; Garay, Bayardo I; Quintero, Diego; Goyal, Piyush; Matthews, Megan N; Thomas, Reuben; Sukonnik, Tatyana; Miguel-Perez, Dario; Winchester, Sarah; Brower, Emily F; Forjaz, André; Wu, Pei-Hsun; Wirtz, Denis; Kiemen, Ashley L; Bruneau, Benoit G | A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects | 2023 | bioRxiv; PMCID: PMC10871243; PMID: 38370632 |
| Martin-Trujillo, Alejandro; Garg, Paras; Patel, Nihir; Jadhav, Bharati; Sharp, Andrew J | Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation | 2023 | Genome Res; PMCID: PMC10069470; PMID: 36577521 |
| Jang, Min Young; Patel, Parth N; Pereira, Alexandre C; Willcox, Jon A L; Haghighi, Alireza; Tai, Angela C; Ito, Kaoru; Morton, Sarah U; Gorham, Joshua M; McKean, David M; DePalma, Steven R; Bernstein, Daniel; Brueckner, Martina; Chung, Wendy K; Giardini, Alessandro; Goldmuntz, Elizabeth; Kaltman, Jonathan R; Kim, Richard; Newburger, Jane W; Shen, Yufeng; Srivastava, Deepak; Tristani-Firouzi, Martin; Gelb, Bruce D; Porter Jr, George A; Seidman, Christine E; Seidman, Jonathan G | Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease | 2023 | Circ Genom Precis Med; PMCID: PMC10404383; PMID: 37165897 |
| Klonowski, Jonathan; Liang, Qianqian; Coban-Akdemir, Zeynep; Lo, Cecilia; Kostka, Dennis | aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants | 2023 | Bioinformatics; PMCID: PMC10534055; PMID: 37688563 |
| Ganapathi, Mythily; Matsuoka, Leticia S; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stoler, Joan M; Bramswig, Nuria C; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P; Iglesias, Alejandro D; Morton, Jenny; Schmetz, Ariane; Undiagnosed Diseases Network; Seidel, Verónica; Lucia, Stephanie; Baskin, Stephanie M; Thiffault, Isabelle; Cogan, Joy D; Gordon, Christopher T; Chung, Wendy K; Bowdin, Sarah; Bhoj, Elizabeth | Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays | 2023 | Eur J Hum Genet; PMCID: PMC10545729; PMID: 37500725 |
| Miller, Thomas A.; Hernandez, Edgar J.; Gaynor, J. William; Russell, Mark W.; Newburger, Jane W.; Chung, Wendy; Goldmuntz, Elizabeth; Cnota, James F.; Zyblewski, Sinai C.; Mahle, William T.; Zak, Victor; Ravishankar, Chitra; Kaltman, Jonathan R.; McCrindle, Brian W.; Clarke, Shanelle; Votava-Smith, Jodie K.; Graham, Eric M.; Seed, Mike; Rudd, Nancy; Bernstein, Daniel; Lee, Teresa M.; Yandell, Mark; and Tristani-Firouzi, Martin | Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease | 2023 | Commun Med; PMC10533527; PMID: 37758840 |
| Hota, Swetansu K; Rao, Kavitha S; Blair, Andrew P; Khalilimeybodi, Ali; Hu, Kevin M; Thomas, Reuben; So, Kevin; Kameswaran, Vasumathi; Xu, Jiewei; Polacco, Benjamin J; Desai, Ravi V; Chatterjee, Nilanjana; Hsu, Austin; Muncie, Jonathon M; Blotnick, Aaron M; Winchester, Sarah A B; Weinberger, Leor S; Hüttenhain, Ruth; Kathiriya, Irfan S; Krogan, Nevan J; Saucerman, Jeffrey J; Bruneau, Benoit G | Brahma safeguards canalization of cardiac mesoderm differentiation | 2022 | Nature |
| Morton, Sarah U; Quiat, Daniel; Seidman, Jonathan G; Seidman, Christine E | Genomic frontiers in congenital heart disease | 2022 | Nat Rev Cardiol |
| Morton, Sarah U; Pereira, Alexandre C; Quiat, Daniel; Richter, Felix; Kitaygorodsky, Alexander; Hagen, Jacob; Bernstein, Daniel; Brueckner, Martina; Goldmuntz, Elizabeth; Kim, Richard W; Lifton, Richard P; Porter Jr, George A; Tristani-Firouzi, Martin; Chung, Wendy K; Roberts, Amy; Gelb, Bruce D; Shen, Yufeng; Newburger, Jane W; Seidman, J G; Seidman, Christine E | Genome-Wide de novo Variants in Congenital Heart Disease Are Not Associated with Maternal Diabetes or Obesity | 2022 | Circ Genom Precis Med. |
| Gonzalez-Teran, Barbara; Pittman, Maureen; Felix, Franco; Thomas, Reuben; Richmond-Buccola, Desmond; Hüttenhain, Ruth; Choudhary, Krishna; Moroni, Elisabetta; Costa, Mauro W; Huang, Yu; Padmanabhan, Arun; Alexanian, Michael; Lee, Clara Youngna; Maven, Bonnie E J; Samse-Knapp, Kaitlen; Morton, Sarah U; McGregor, Michael; Gifford, Casey A; Seidman, J G; Seidman, Christine E; Gelb, Bruce D; Colombo, Giorgio; Conklin, Bruce R; Black, Brian L; Bruneau, Benoit G; Krogan, Nevan J; Pollard, Katherine S; Srivastava, Deepak | Transcription Factor Protein Interactomes Reveal Genetic Determinants in Heart Disease | 2022 | Cell |
| Willcox, Jon A L; Geiger, Joshua T; Morton, Sarah U; McKean, David; Quiat, Daniel; Gorham, Joshua M; Tai, Angela C; DePalma, Steven; Bernstein, Daniel; Brueckner, Martina; Chung, Wendy K; Giardini, Alessandro; Goldmuntz, Elizabeth; Kaltman, Jonathan R; Kim, Richard; Newburger, Jane W; Shen, Yufeng; Srivastava, Deepak; Tristani-Firouzi, Martin; Gelb, Bruce; Porter Jr, George A; Seidman, J G; Seidman, Christine E | Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk | 2022 | Am J Hum Genet. |
| Weaver, K Nicole; Chen, Jing; Shikany, Amy; White, Pete S; Prada, Carlos E; Gelb, Bruce D; Cnota, James F; Pediatric Cardiac Genomics Consortium Investigators* | Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis | 2022 | Circ Genom Precis Med |
| Å koriÄ-MilosavljeviÄ, Doris; Tadros, Rafik; Bosada, Fernanda M; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I; Tjong, Fleur V Y; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J; Agopian, A J; Blue, Gillian M; Barge-Schaapveld, Daniela Q C M; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Müller-Nurasyid, Martina; KORA-Study Group; Vliegen, Hubert W; Konings, Thelma C; van Melle, Joost P; van Dijk, Arie P J; van Kimmenade, Roland R J; Roos-Hesselink, Jolien W; Sieswerda, Gertjan T; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans M; Al-Chalabi, Ammar; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Evans, Sylvia; Nobrega, Marcelo A; Aneas, Ivy; Radivojkov-BlagojeviÄ, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John F; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J; Chaix, Marie-A; Kline, Jennie; Bassett, Anne S; Andelfinger, Gregor; van der Palen, Roel L F; Bouvagnet, Patrice; Clur, Sally-Ann B; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S; Winlaw, David S; Bauer, Ulrike M M; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J; Tanck, Michael W T; Bakkers, Jeroen; Christoffels, Vincent M; Boogerd, Cornelis J; Postma, Alex V; Bezzina, Connie R | Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries | 2022 | Circ Res.; PMCID: PMC8768504; PMID: 34886679 |
| Hongjian Qi, Haicang Zhang, Yige Zhao, Chen Chen, John J. Long, Wendy K. Chung, Yongtao Guan, and Yufeng Shen | MVP predicts the pathogenicity of missense variants by deep learning | 2021 | Nat Commun. PMID: 33479230. PMC7820281. |
| Morton, Sarah U; Shimamura, Akiko; Newburger, Peter E; Opotowsky, Alexander R; Quiat, Daniel; Pereira, Alexandre C; Jin, Sheng Chih; Gurvitz, Michelle; Brueckner, Martina; Chung, Wendy K; Shen, Yufeng; Bernstein, Daniel; Gelb, Bruce D; Giardini, Alessandro; Goldmuntz, Elizabeth; Kim, Richard W; Lifton, Richard P; Porter Jr, George A; Srivastava, Deepak; Tristani-Firouzi, Martin; Newburger, Jane W; Seidman, J G; Seidman, Christine E | Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease | 2021 | JAMA Cardiol. PMID: 33084843. PMC7578917. |
| Ward, Tarsha; Tai, Warren; Morton, Sarah; Impens, Francis; Van Damme, Petra; Van Haver, Delphi; Timmerman, Evy; Venturini, Gabriela; Zhang, Kehan; Jang, Min Young; Willcox, Jon A L; Haghighi, Alireza; Gelb, Bruce D; Chung, Wendy K; Goldmuntz, Elizabeth; Porter Jr, George A; Lifton, Richard P; Brueckner, Martina; Yost, H Joseph; Bruneau, Benoit G; Gorham, Joshua; Kim, Yuri; Pereira, Alexandre; Homsy, Jason; Benson, Craig C; DePalma, Steven R; Varland, Sylvia; Chen, Christopher S; Arnesen, Thomas; Gevaert, Kris; Seidman, Christine; Seidman, J G | Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency | 2021 | Circ Res. PMID: 33557580. PMC8048381. |
| Oluwafemi, Omobola O; Musfee, Fadi I; Mitchell, Laura E; Goldmuntz, Elizabeth; Xie, Hongbo M; Hakonarson, Hakon; Morrow, Bernice E; Guo, Tingwei; Taylor, Deanne M; McDonald-McGinn, Donna M; Emanuel, Beverly S; Agopian, A J | Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States | 2021 | Genes (Basel) PMID: 34356046 PMCID: PMC8306129 |
| Å koriÄ-MilosavljeviÄ, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; German Competence Network for Congenital Heart Defects; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R | Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot | 2021 | Genet Med. PMID: 34113005 PMCID: PMC8486653 |
| Lahrouchi, Najim; Postma, Alex V; Salazar, Christian M; De Laughter, Daniel M; Tjong, Fleur; Piherová, Lenka; Bowling, Forrest Z; Zimmerman, Dominic; Lodder, Elisabeth M; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Å koriÄ-MilosavljeviÄ, Doris; Stránecký, Viktor; Tomek, Viktor; de Knijff, Peter; de Leeuw, Rick; Robinson, Jamille Y; Burn, Sabrina C; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M; Wolf, Barry; Kim, Katherine H; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denommé-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C; Ten Harkel, Arend D.J.; Manten, Gwendolyn Tr; Dutman, Annemiek C; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs We; Herkert, Johanna C; Brown, H Alex; Elpeleg, Orly; van den Hoff, Maurice Jb; Mulder, Barbara; Airola, Michael V; Kmoch, Stanislav; Barnett, Joey V; Clur, Sally-Ann; Frohman, Michael A; Bezzina, Connie R | Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy | 2021 | J Clin Invest PMID: 33645542 PMCID: PMC7919725 |
| Yates, Joshua D; Russell, Robert C; Barton, Nathaniel J; Yost, H Joseph; Hill, Jonathon T | A simple and rapid method for enzymatic synthesis of CRISPR-Cas9 sgRNA libraries | 2021 | Nucleic Acids Res.; PMCID: PMC8682767; PMID: 34554233 |
| Richter, Felix; Morton, Sarah U; Kim, Seong Won; Kitaygorodsky, Alexander; Wasson, Lauren K; Chen, Kathleen M; Zhou, Jian; Qi, Hongjian; Patel, Nihir; DePalma, Steven R; Parfenov, Michael; Homsy, Jason; Gorham, Joshua M; Manheimer, Kathryn B; Velinder, Matthew; Farrell, Andrew; Marth, Gabor; Schadt, Eric E; Kaltman, Jonathan R; Newburger, Jane W; Giardini, Alessandro; Goldmuntz, Elizabeth; Brueckner, Martina; Kim, Richard; Porter Jr, George A; Bernstein, Daniel; Chung, Wendy K; Srivastava, Deepak; Tristani-Firouzi, Martin; Troyanskaya, Olga G; Dickel, Diane E; Shen, Yufeng; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D | Genomic analyses implicate non coding de novo variants in congenital heart disease | 2020 | Nat Genet |
| Trevino, Cristina E; Holleman, Aaron M; Corbitt, Holly; Maslen, Cheryl L; Rosser, Tracie C; Cutler, David J; Johnston, H Richard; Rambo-Martin, Benjamin L; Oberoi, Jai; Dooley, Kenneth J; Capone, George T; Reeves, Roger H; Cordell, Heather J; Keavney, Bernard D; Agopian, A J; Goldmuntz, Elizabeth; Gruber, Peter J; O'Brien Jr, James E; Bittel, Douglas C; Wadhwa, Lalita; Cua, Clifford L; Mulle, Jennifer G; Epstein, Michael P; Sherman, Stephanie L; Zwick, Michael E | Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down Syndrome | 2020 | Sci Rep |
| Edwards, Jonathan J; Rouillard, Andrew D; Fernandez, Nicolas F; Wang, Zichen; Lachmann, Alexander; Shankaran, Sunita S; Bisgrove, Brent W; Demarest, Bradley; Turan, Nahid; Srivastava, Deepak; Bernstein, Daniel; Deanfield, John; Giardini, Alessandro; Porter, George; Kim, Richard; Roberts, Amy E; Newburger, Jane W; Goldmuntz, Elizabeth; Brueckner, Martina; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K; Tristani-Firouzi, Martin; Yost, H Joseph; Ma'ayan, Avi; Gelb, Bruce D | Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects | 2020 | JACC Basic Transl Sci |
| Sharma, Arun; Wasson, Lauren K; Willcox, Jon Al; Morton, Sarah U; Gorham, Joshua M; DeLaughter, Daniel M; Neyazi, Meraj; Schmid, Manuel; Agarwal, Radhika; Jang, Min Young; Toepfer, Christopher N; Ward, Tarsha; Kim, Yuri; Pereira, Alexandre C; DePalma, Steven R; Tai, Angela; Kim, Seongwon; Conner, David; Bernstein, Daniel; Gelb, Bruce D; Chung, Wendy K; Goldmuntz, Elizabeth; Porter, George; Tristani-Firouzi, Martin; Srivastava, Deepak; Seidman, Jonathan G; Seidman, Christine E; Pediatric Cardiac Genomics Consortium | GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm | 2020 | eLife |
| Kathiriya, Irfan S; Rao, Kavitha S; Iacono, Giovanni; Devine, W Patrick; Blair, Andrew P; Hota, Swetansu K; Lai, Michael H; Garay, Bayardo I; Thomas, Reuben; Gong, Henry Z; Wasson, Lauren K; Goyal, Piyush; Sukonnik, Tatyana; Hu, Kevin M; Akgun, Gunes A; Bernard, Laure D; Akerberg, Brynn N; Gu, Fei; Li, Kai; Speir, Matthew L; Haeussler, Maximilian; Pu, William T; Stuart, Joshua M; Seidman, Christine E; Seidman, J G; Heyn, Holger; Bruneau, Benoit G | Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease | 2020 | Dev Cell |
| Anshuman Sewda, A. J. Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E. Morrow, Fadi Musfee, Deanne Taylor, Laura E. Mitchel | Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects | 2020 | PLOS One |
| Morton, Sarah U; Maleyeff, Lara; Wypij, David; Yun, Hyuk Jin; Newburger, Jane W; Bellinger, David C; Roberts, Amy E; Rivkin, Michael J; Seidman, J G; Seidman, Christine E; Grant, P Ellen; Im, Kiho | Abnormal Left-Hemispheric Sulcal Patterns Correlate With Neurodevelopmental Outcomes in Subjects With Single Ventricular Congenital Heart Disease | 2020 | Cereb Cortex |
| Capasso, Teresa L; Li, Bijun; Volek, Harry J; Khalid, Waqas; Rochon, Elizabeth R; Anbalagan, Arulselvi; Herdman, Chelsea; Yost, H Joseph; Villanueva, Flordeliza S; Kim, Kang; Roman, Beth L | BMP10-mediated ALK1 Signaling Is Continuously Required for Vascular Development and Maintenance | 2020 | Angiogenesis |
| Guo, Yuxuan; Pu, William T | Cardiomyocyte Maturation New Phase in Development | 2020 | Circ Res |
| Morton, Sarah U; Agarwal, Radhika; Madden, Jill A; Genetti, Casie A; Brownstein, Catherine A; López-Giráldez, Francesc; Choi, Jungmin; Seidman, Christine E; Seidman, Jonathan G; Lyon, Gholson J; Agrawal, Pankaj B | Congenital Heart Defects Due to TAF1 Missense Variants | 2020 | Circulation. Genomic and precision medicine. |
| Seiden, Allison H; Richter, Felix; Patel, Nihir; Rodriguez, Oscar L; Deikus, Gintaras; Shah, Hardik; Smith, Melissa; Roberts, Amy; King, Eileen C; Sebra, Robert P; Sharp, Andrew J; Gelb, Bruce D | Elucidation of De Novo Small Insertion/Deletion Biology With Parent-Of-Origin Phasing | 2020 | Development |
| Sevim Bayrak, Cigdem; Zhang, Peng; Tristani-Firouzi, Martin; Gelb, Bruce D; Itan, Yuval | De Novo Variants in Exomes of Congenital Heart Disease Patients Identify Risk Genes and Pathways | 2020 | Genome Med |
| Agopian, A J; Hoang, Thanh T; Goldmuntz, Elizabeth; Hakonarson, Hakon; Musfee, Fadi I; Mitchell, Laura E; Pediatric Cardiac Genomics Consortium | X-chromosome Association Studies of Congenital Heart Defects | 2020 | Am J Med Genet A |
| Ji, Weizhen; Ferdman, Dina; Copel, Joshua; Scheinost, Dustin; Shabanova, Veronika; Brueckner, Martina; Khokha, Mustafa K; Ment, Laura R | De novo damaging variants associated with congenital heart diseases contribute to the connectome | 2020 | Sci Rep |
| Hsieh, Alexander; Morton, Sarah U; Willcox, Jon A L; Gorham, Joshua M; Tai, Angela C; Qi, Hongjian; DePalma, Steven; McKean, David; Griffin, Emily; Manheimer, Kathryn B; Bernstein, Daniel; Kim, Richard W; Newburger, Jane W; Porter Jr, George A; Srivastava | EM-mosaic Detects Mosaic Point Mutations That Contribute to Congenital Heart Disease | 2020 | Genome medicine |
| Hagler Jr, Donald J; Hatton, SeanN; Cornejo, M Daniela; Makowski, Carolina; Fair, Damien A; Dick, Anthony Steven; Sutherland, Matthew T; Casey, B J; Barch, Deanna M; Harms, Michael P; Watts, Richard; Bjork, James M; Garavan, Hugh P; Hilmer, Laura; Pung, C | Image Processing and Analysis Methods for the Adolescent Brain Cognitive Development Study | 2020 | Neuroimage |
| Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G; Nickerson, Deborah A; van Binsbergen, Ellen; Enns, Gregory M; Dries, Annika M; Rowe, Leah J; Tsai, Anne C H; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H; Martinez-Agosto, Julian; Ockeloen, Charlotte W; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A; Undiagnosed Diseases Network,; Eichler, Evan E; Vincent, John B; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad, Michael J | De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder | 2020 | Genet Med; PMCID: PMC7060121; PMID: 31723249 |
| Weiss, Karin; Lazar, Hayley P; Kurolap, Alina; Martinez, Ariel F; Paperna, Tamar; Cohen, Lior; Smeland, Marie F; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D; Petrovich, Robert M; Schrier Vergano, Samantha A; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, LÄ«vija; Krock, Bryan; Skraban, Cara M; Zackai, Elaine H; Dubbs, Holly A; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D; Baris Feldman, Hagit; Campeau, Philippe M; Muenke, Maximilian; Wade, Paul A; Lachlan, Katherine | The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis | 2020 | Genet Med; PMCID: PMC8900827; PMID: 31388190 |
| Nees, Shannon N; Chung, Wendy K | The Genetics of Isolated Congenital Heart Disease | 2020 | Am J Med Genet C Semin Med Genet; PMCID: PMC8211463; PMID: 31876989 |
| Richter, F; Hoffman, G E; Manheimer, K B; Patel, N; Sharp, A J; McKean, D; Morton, S U; DePalma, S; Gorham, J; Kitaygorodksy, A; Porter, G A; Giardini, A; Shen, Y; Chung, W K; Seidman, J G; Seidman, C E; Schadt, E E; Gelb, B D | ORE Identifies Extreme Expression Effects Enriched for Rare Variants. | 2019 | Bioinformatics. 2019 Mar 23. pii: btz202. doi: 10.1093/bioinformatics/btz202. [Epub ahead of print] |
| Gifford, Casey A; Ranade, Sanjeev S; Samarakoon, Ryan; Salunga, Hazel T; de Soysa, T Yvanka; Huang, Yu; Zhou, Ping; Elfenbein, Aryé; Wyman, Stacia K; Bui, Yen Kim; Cordes Metzler, Kimberly R; Ursell, Philip; Ivey, Kathryn N; Srivastava, Deepak | Oligogenic inheritance of a human heart disease involving a genetic modifier. | 2019 | Science. 2019 May 31;364(6443):865-870. doi: 10.1126/science.aat5056. Epub 2019 May 30. |
| Ren, Jie; Han, Peidong; Ma, Xuanyi; Farah, Elie N; Bloomekatz, Joshua; Zeng, Xin-Xin I; Zhang, Ruilin; Swim, Megan M; Witty, Alec D; Knight, Hannah G; Deshpande, Rima; Xu, Weizhe; Yelon, Deborah; Chen, Shaochen; Chi, Neil C | Canonical Wnt5b Signaling Directs Outlying Nkx2.5+ Mesoderm into Pacemaker Cardiomyocytes. | 2019 | Developmental cell. |
| Deacon, Dekker C; Happe, Cassandra L; Chen, Chao; Tedeschi, Neil; Manso, Ana Maria; Li, Ting; Dalton, Nancy D; Peng, Qian; Farah, Elie N; Gu, Yusu; Tenerelli, Kevin P; Tran, Vivien D; Chen, Ju; Peterson, Kirk L; Schork, Nicholas J; Adler, Eric D; Engler, Adam J; Ross, Robert S; Chi, Neil C | Combinatorial interactions of genetic variants in human cardiomyopathy. | 2019 | Nature biomedical engineering. |
| Zhang, Yanxiao; Li, Ting; Preissl, Sebastian; Amaral, Maria Luisa; Grinstein, Jonathan D; Farah, Elie N; Destici, Eugin; Qiu, Yunjiang; Hu, Rong; Lee, Ah Young; Chee, Sora; Ma, Kaiyue; Ye, Zhen; Zhu, Quan; Huang, Hui; Fang, Rongxin; Yu, Leqian; Izpisua Belmonte, Juan Carlos; Wu, Jun; Evans, Sylvia M; Chi, Neil C; Ren, Bing | Transcriptionally active HERV-H retrotransposons demarcate topologically associating domains in human pluripotent stem cells. | 2019 | Nature genetics. |
| Stone, Nicole R; Gifford, Casey A; Thomas, Reuben; Pratt, Karishma J B; Samse-Knapp, Kaitlen; Mohamed, Tamer M A; Radzinsky, Ethan M; Schricker, Amelia; Ye, Lin; Yu, Pengzhi; van Bemmel, Joke G; Ivey, Kathryn N; Pollard, Katherine S; Srivastava, Deepak | Context-Specific Transcription Factor Functions Regulate Epigenomic and Transcriptional Dynamics during Cardiac Reprogramming. | 2019 | Cell stem cell. |
| Whalen, Sean; Pollard, Katherine S | Most chromatin interactions are not in linkage disequilibrium. | 2019 | Genome research. |
| Shiyan Wang, Jiahuan Chen, Sara P. Garcia, Xiaodong Liang, Fang Zhang | A dynamic and integrated epigenetic program at distal regions orchestrates transcriptional responses to VEGFA | 2019 | Genome Research |
| Samee, Md Abul Hassan; Bruneau, Benoit G; Pollard, Katherine S | A de novo shape-motif discovery algorithm reveals preferences of transcription factors for DNA shape beyond sequence-motif | 2019 | Cell Syst |
| Fudenberg, Geoff; Pollard, Katherine S | Chromatin features constrain structural variation across evolutionary timescales. | 2019 | Proc Natl Acad Sci U S A |
| Brynn N. Akerberg, Fei Gu, Nathan J. VanDusen, Xiaoran Zhang, Rui Dong, Kai Li, Bing Zhang, Bin Zhou, Isha Sethi, Qing Ma, Lauren Wasson, Tong Wen, Jinhua Liu, Kunzhe Dong, Frank L. Conlon, Jiliang Zhou, Guo-Cheng Yuan, Pingzhu Zhou & William T. Pu | A reference map of murine cardiac transcription factor chromatin occupancy identifies dynamic and conserved enhancers | 2019 | Nature Communications |
| A. J. Agopian, Thanh T. Hoang, Elizabeth Goldmuntz, Hakon Hakonarson, Fadi I. Musfee, Laura E. Mitchell, the Pediatric Cardiac Genomics Consortium | X-chromosome association studies of congenital heart defects | 2019 | American Journal of Medical Genetics |
| Akerberg, Brynn N; Pu, William T | Genetic and Epigenetic Control of Heart Development | 2019 | Cold Spring Harbor perspectives in biology. |
| Hota, Swetansu K; Johnson, Jeffrey R; Verschueren, Erik; Thomas, Reuben; Blotnick, Aaron M; Zhu, Yiwen; Sun, Xin; Pennacchio, Len A; Krogan, Nevan J; Bruneau, Benoit G | Dynamic BAF Chromatin Remodeling Complex Subunit Inclusion Promotes Temporally Distinct Gene Expression Programs in Cardiogenesis | 2019 | Development |
| George, Matthew R; Duan, Qiming; Nagle, Abigail; Kathiriya, Irfan S; Huang, Yu; Rao, Kavitha; Haldar, Saptarsi M; Bruneau, Benoit G | Minimal in vivo Requirements for Developmentally Regulated Cardiac Long Intergenic Non-Coding RNAs | 2019 | Development |
| Serrano, Maria de Los Angeles; Demarest, Bradley L; Tone-Pah-Hote, Tarlynn; Tristani-Firouzi, Martin; Yost, H Joseph | Inhibition of Notch Signaling Rescues Cardiovascular Development in Kabuki Syndrome | 2019 | PLoS Biol |
| Kaplinski, Michelle; Taylor, Deanne; Mitchell, Laura E; Hammond, Dorothy A; Goldmuntz, Elizabeth; Agopian, A J; Pediatric Cardiac Genomics Consortium | The Association of Elevated Maternal Genetic Risk Scores for Hypertension, Type 2 Diabetes and Obesity and Having a Child With a Congenital Heart Defect | 2019 | PLoS One |
| Sewda, Anshuman; Agopian, A J; Goldmuntz, Elizabeth; Hakonarson, Hakon; Morrow, Bernice E; Taylor, Deanne; Mitchell, Laura E; Pediatric Cardiac Genomics Consortium | Gene-based Genome-Wide Association Studies and Meta-Analyses of Conotruncal Heart Defects | 2019 | PloS one |
| Watkins, W Scott; Hernandez, E Javier; Wesolowski, Sergiusz; Bisgrove, Brent W; Sunderland, Ryan T; Lin, Edwin; Lemmon, Gordon; Demarest, Bradley L; Miller, Thomas A; Bernstein, Daniel; Brueckner, Martina; Chung, Wendy K; Gelb, Bruce D; Goldmuntz, Elizabe | De Novo and Recessive Forms of Congenital Heart Disease Have Distinct Genetic and Phenotypic Landscapes | 2019 | Nat Commun |
| Verheije, Rosalind; Kupchik, Gabriel S; Isidor, Bertrand; Kroes, Hester Y; Lynch, Sally Ann; Hawkes, Lara; Hempel, Maja; Gelb, Bruce D; Ghoumid, Jamal; D'Amours, Guylaine; Chandler, Kate; Dubourg, Christèle; Loddo, Sara; Tümer, Zeynep; Shaw-Smith, Charles; Nizon, Mathilde; Shevell, Michael; Van Hoof, Evelien; Anyane-Yeboa, Kwame; Cerbone, Gaetana; Clayton-Smith, Jill; Cogné, Benjamin; Corre, Pierre; Corveleyn, Anniek; De Borre, Marie; Hjortshøj, Tina Duelund; Fradin, Mélanie; Gewillig, Marc; Goldmuntz, Elizabeth; Hens, Greet; Lemyre, Emmanuelle; Journel, Hubert; Kini, Usha; Kortüm, Fanny; Le Caignec, Cedric; Novelli, Antonio; Odent, Sylvie; Petit, Florence; Revah-Politi, Anya; Stong, Nicholas; Strom, Tim M; van Binsbergen, Ellen; DDD study; Devriendt, Koenraad; Breckpot, Jeroen | Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability | 2019 | Eur J Hum Genet; PMCID: PMC6336847; PMID: 30291340 |
| Guo Y, Pu WT | Genetic Mosaics for Greater Precision in Cardiovascular Research | 2018 | Circ Res. 2018 Jun 22;123(1):27-29; PMID: 29929974; PMCID: PMC6025841 |
| Moquin, SA, Thomas, S,* Whalen, S, Warburton, A, Fernandez SG,* McBride AA, Pollard, KS, Miranda, JJL. | The Epstein-Barr virus episome maneuvers between nuclear chromatin compartments during reactivation | 2018 | J Virol. 2018 Feb 1; 92(3): e01413- PMID: 29142137 PMCID: PMC5774889. |
| Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, et al. | Identification of rare de novo epigenetic variations in congenital disorders. | 2018 | Nat Commun. 2018; 9: 2064 PMCID: PMC5970273, PMID: 29802345 |
| Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, Seidman CE, Seidman JG, Gelb BD. | Robust identification of mosaic variants in congenital heart disease | 2018 | Hum Genet. 2018 Feb;137(2):183-193. PMID: 29417219. |
| Hoang TT, Goldmuntz E, Roberts AE, Chung WK, Kline JK, et al. | The Congenital Heart Disease Genetic Network Study: Cohort description. | 2018 | PLoS One. 2018 Jan 19;13(1):e0191319. PMID:29351346 PMC5774789. |
| Manheimer, KB; Patel, N; Richter, F; Gorham, J; Tai, AC; Homsy, J; Boskovski, MT; Parfenov, M; Goldmuntz, E; Chung, WK; Brueckner, M; Tristani-Firouzi, M; Srivastava, D; Seidman, JG; Seidman CE; Gelb BD; Sharp AJ. | Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. | 2018 | Hum Mutat. 2018 Jun;39(6):870-881. PMID: 29527824. |
| Dickel DE, Ypsilanti AR, Pla R, Zhu Y, Barozzi I, Mannion BJ, Khin YS, Fukuda-Yuzawa Y, Plajzer-Frick I, Pickle CS, Lee EA, Harrington AN, Pham QT, Garvin TH, Kato M, Osterwalder M, Akiyama JA, Afzal V, Rubenstein JLR, Pennacchio LA, Visel A. | Ultraconserved Enhancers Are Required for Normal Development. | 2018 | Cell. 2018 Jan 25;172(3):491-499. PMID:29358049 PMC5786478. |
| Matsunami N, Shanmugam H, Baird L, Stevens J, Byrne JL, Barnhart DC, Rau C, Feldkamp ML, Yoder BA, Leppert MF, Yost HJ, Brunelli L. | Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. | 2018 | Birth Defects Res. 2018 Apr 17;110(7):610-617. PMID:29570242 PMC5903934. |
| Sun X, Hota SK, Zhou YQ, Novak S, Miguel-Perez D, Christodoulou D, Seidman CE, Seidman JG, Gregorio CC, Henkelman RM, Rossant J, Bruneau BG. | Cardiac enriched BAF chromatin remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function. | 2018 | Biol Open. 2018 Jan 5;7(1). PMID:29183906 PMC5829499. |
| Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. | Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes | 2018 | Am J Hum Genet. 2018 Jan 17. PMID: 29394990 PMCID: 5985417. |
| DiLorenzo MP, Goldmuntz E, Nicolson SC, Fogel MA Mercer-Rosa L | Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study. | 2018 | Cardiol Young. 2018 May;28(5):697-701 |
| Pierpont, Mary Ella; Brueckner, Martina; Chung, Wendy K; Garg, Vidu; Lacro, Ronald V; McGuire, Amy L; Mital, Seema; Priest, James R; Pu, William T; Roberts, Amy; Ware, Stephanie M; Gelb, Bruce D; Russell, Mark W; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. | 2018 | Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. |
| DeLaughter, Daniel M | The Use of the Fluidigm C1 for RNA Expression Analyses of Single Cells. | 2018 | Curr Protoc Mol Biol. 2018 Apr;122(1):e55. doi: 10.1002/cpmb.55. |
| Stroud, Matthew J; Fang, Xi; Zhang, Jianlin; Guimarães-Camboa, Nuno; Veevers, Jennifer; Dalton, Nancy D; Gu, Yusu; Bradford, William H; Peterson, Kirk L; Evans, Sylvia M; Gerace, Larry; Chen, Ju | Luma is not essential for murine cardiac development and function. | 2018 | Cardiovascular research. |
| Yuan, Xuefei; Song, Mengyi; Devine, Patrick; Bruneau, Benoit G; Scott, Ian C; Wilson, Michael D | Heart enhancers with deeply conserved regulatory activity are established early in zebrafish development. | 2018 | Nature communications. |
| Guo Y, Jardin DB, Zhou P, Sethi I, Akerberg BN, et al. | Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor | 2018 | Nat Commun |
| Abdul-Wajid S, Demarest BL, and Yost HJ | Loss of embroyonic neural crest cardiomyoctes causes adult hpertrophic cardiomyopathy | 2018 | Nat Commun |
| Bressan, Michael; Henley, Trevor; Louie, Jonathan D; Liu, Gary; Christodoulou, Danos; Bai, Xue; Taylor, Joan; Seidman, Christine E; Seidman, J G; Mikawa, Takashi | Dynamic Cellular Integration Drives Functional Assembly of the Heart's Pacemaker Complex. | 2018 | Cell Rep |
| Osterwalder, Marco; Barozzi, Iros; Tissières, Virginie; Fukuda-Yuzawa, Yoko; Mannion, Brandon J; Afzal, Sarah Y; Lee, Elizabeth A; Zhu, Yiwen; Plajzer-Frick, Ingrid; Pickle, Catherine S; Kato, Momoe; Garvin, Tyler H; Pham, Quan T; Harrington, Anne N; Akiy | Enhancer Redundancy Allows for Phenotypic Robustness in Mammalian Development | 2018 | Nature |
| Karanth, Santhosh; Adams, J D; Serrano, Maria de Los Angeles; Quittner-Strom, Ezekiel B; Simcox, Judith; Villanueva, Claudio J; Ozcan, Lale; Holland, William L; Yost, H Joseph; Vella, Adrian; Schlegel, Amnon | A Hepatocyte FOXN3-α Cell Glucagon Axis Regulates Fasting Glucose | 2018 | Cell Rep |
| Tai, Angela C; Parfenov, Michael; Gorham, Joshua M | Droplet Digital PCR with EvaGreen Assay: Confirmational Analysis of Structural Variants | 2018 | Curr Protoc Hum Genet |
| Veevers, Jennifer; Farah, Elie N; Corselli, Mirko; Witty, Alec D; Palomares, Karina; Vidal, Jason G; Emre, Nil; Carson, Christian T; Ouyang, Kunfu; Liu, Canzhao; van Vliet, Patrick; Zhu, Maggie; Hegarty, Jeffrey M; Deacon, Dekker C; Grinstein, Jonathan D; | Cell-Surface Marker Signature for Enrichment of Ventricular Cardiomyocytes Derived from Human Embryonic Stem Cells | 2018 | Stem Cell Reports |
| Gorsi B, Mosbruger T, Smith M, Hill JT, Yost HJ. | Nkx2.5-dependent alterations of the embryonic heart DNA methylome identify novel cis-regulatory elements in cardiac development | 2017 | bioRxiv. 2017 doi:10.1101/186395. |
| Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A, Taylor D, Mitchell LE | Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects | 2017 | Circ Cardiovasc Genet. 2017;10:e001449 |
| Lyozin GT, Kosaka Y, Bhattacharje G, Yost HJ, Brunelli L. | Direct Isolation of Seamless Mutant Bacterial Artificial Chromosomes | 2017 | Curr Protoc Mol Biol. 2017 Apr 3;118:8.6.1-8.6.29. doi: 10.1002/cpmb.34. PMID: 28369677 |
| Nora EP, Goloborodko A, Volton AL, Gibcus J, Uebersohn A, Abdennur N, Dekker J, Mirny LA, Bruneau BG  | Targeted degradation of CTCF decouples local insulation of chromosome domains from higher-order genomic compartmentalization | 2017 | Cell Volume 169, Issue 5, p930â944.e22, 18 May 2017 |
| Shankaran SS, Dahlem TJ, Bisgrove BW, Yost HJ, Tristani-Firouzi M | CRISPR/Cas9-Directed Gene Editing for the Generation of Loss-of-Function Mutants in High-Throughput Zebrafish F0 Screens | 2017 | Curr Protoc Mol Biol. 2017 Jul 5;119:31.9.1-31.9.22. doi: 10.1002/cpmb.42. PMID: 28678442 |
| Chen J, Fu Y, Day DS, Sun Y, Wang S, Liang, X, et al | VEGF amplifies transcription through ETS1 acetylation to enable angiogenesis | 2017 | Nat Commun. 2017 Aug 29;8(1):383 |
| Hill JT, Demarest B, Gorsi B, Smith M, Yost HJ. | Heart morphogenesis gene regulatory networks revealed by temporal expression analysis. | 2017 | Development. 2017 Aug 14. pii: dev.154146. doi: 10.1242/dev.154146. PMID: 28807900 |
| VanDusen, NJ; Guo, Y; Gu, W; Pu, WT | CASAAV: A CRISPR-Based Platform for Rapid Dissection of Gene Function In Vivo. | 2017 | Curr Protoc Mol Biol |
| Jin S, Homsy J, Zaidi S, Lu Q, Morton S, et al | Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands | 2017 | Nature Genetics |
| Anderson, CM; Hu, J; Thomas, R; Gainous, TB; Celona, B; et al. | Cooperative activation of cardiac transcription through myocardin bridging of paired MEF2 sites | 2017 | Nature Genetics |
| Yu, W; Zhang, F; Wang, S; Fu, Y; Chen, J; et al. | Depletion of polycomb repressive complex 2 core component EED impairs fetal hematopoiesis. | 2017 | Cell Death Dis |
| Ai, S; Peng Y; Li, C; Gu, F; Yu, X; et al. | EED orchestration of heart maturation through interaction with HDACs is H3K27me3-independent. | 2017 | eLife |
| Laurent, F; Girdziusaite, A; Gamart, J; Barozzi, I; Osterwalder; et al | HAND2 Target Gene Regulatory Networks Control Atrioventricular Canal and Cardiac Valve Development | 2017 | Cell Rep |
| Zhou, P; Gu, F; Zhang, L; Akerberg, BN; Ma, Q; et al. | Mapping cell type-specific transcriptional enhancers using high affinity, lineage-specific Ep300 bioChIP-seq. | 2017 | elife |
| Simmons MA, Brueckner M | The genetics of congenital heart diseaseÉ understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician | 2017 | Curr Opin Pediatr |
| Theodoris, Christina V; Mourkioti, Foteini; Huang, Yu; Ranade, Sanjeev S; Liu, Lei; Blau, Helen M; Srivastava, Deepak | Long telomeres protect against age-dependent cardiac disease caused by NOTCH1 haploinsufficiency. | 2017 | The Journal of clinical investigation |
| Galdos FX; G Y; Paige SL; VanDusen NJ; Wu SM; et al. | Cardiac Regeneration: Lessons From Development. | 2017 | Circulation Research |
| Deniz E. Jonas S, Hooper M, Griffin JN, Choma MA, Khokha MK | Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography | 2017 | Sci Rep |
| Liu, X; Yagi, H; Saeed, S; Bais, AS; Gabriel, GC; et al | The complex genetics of hypoplastic left heart syndrome. | 2017 | Nature genetics |
| Ai, S; Yu, X; Li, Yi; P, Y; Li, C; et al. | Divergent Requirements for EZH1 in Heart Development Versus Regeneration | 2017 | Circulation research |
| Liu, X; Kim, AJ; Reynolds, W; Wu, Y; Lo, CW | Phenotyping cardiac and structural birth defects in fetal and newborn mice | 2017 | Birth defects research |
| Wu, YL; Lo, CW | Diverse application of MRI for mouse phenotyping | 2017 | Birth defects research |
| Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, Lam L, MacRae CA, Mohiuddin SM, Fatkin D, Seidman CE, Seidman JG | Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing | 2017 | Proc Natl Acad Sci U S A |
| Zaidi S, Brueckner M. | Genetics and Genomics of Congenital Heart Disease | 2017 | Circ Res |
| R Thomas, S Thomas, AK Holloway, KS Pollard | Features that define the best ChIP-seq peak calling algorithms | 2017 | Briefings in Bioinformatics |
| Hota S, Johnson J, Verschueren E, Zhu Y, Sun X, Pennacchio L, Rossant J, Krogan N, Bruneau B. | BRG1/BRM-associated factor complex subunit diversity promotes temporally distinct gene expression programs in cardiogenesis | 2017 | bioRxiv |
| Guo Y, VanDusen NJ, Zhang L, Gu W, Sethi I, Guatimosim S, Ma Q, Jardin BD, Ai Y, Zhang D, Chen B, Guo A, Yuan GC, Song LS, Pu WT. | Analysis of Cardiac Myocyte Maturation Using CASAAV, a Platform for Rapid Dissection of Cardiac Myocyte Gene Function In Vivo. | 2017 | Nat Commun |
| Hirai, M; Arita, Y; McGlade, CJ; Lee, K; Chen, J; Evans, SM | Adaptor proteins NUMB and NUMBL promote cell cycle withdrawal by targeting ERBB2 for degradation. | 2017 | J Clin Invest |
| Eilbeck, Karen; Quinlan, Aaron; Yandell, Mark | Settling the score: variant prioritization and Mendelian disease. | 2017 | Nature reviews. Genetics. |
| Bhat, Misha; Goldmuntz, Elizabeth; Fogel, Mark A; Rychik, Jack; Mercer-Rosa, Laura | Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot. | 2017 | Pediatr Cardiol |
| Bhatt, Shivani M; Goldmuntz, Elizabeth; Cassedy, Amy; Marino, Bradley S; Mercer-Rosa, Laura | Quality of Life is Diminished in Patients with Tetralogy of Fallot with Mild Residual Disease: A Comparison of Tetralogy of Fallot and Isolated Valvar Pulmonary Stenosis. | 2017 | Pediatr Cardiol |
| Hoang, Thanh T; Marengo, Lisa K; Mitchell, Laura E; Canfield, Mark A; Agopian, A J | Original Findings and Updated Meta-Analysis for the Association Between Maternal Diabetes and Risk for Congenital Heart Disease Phenotypes. | 2017 | Am J Epidemiol |
| Dickel DE, Barozzi I, Zhu Y, Fukuda-Yuzawa Y, Osterwalder M, Mannion BJ, May D, Spurrell CH, Plajzer-Frick I, Pickle CS, Lee E, Garvin TH, Kato M, Akiyama JA, Afzal V, Lee AY, Gorkin DU, Ren B, Rubin EM, Visel A, Pennacchio LAÂ | Genome-wide compendium and functional assessment of in vivo heart enhancers. | 2016 | Nature Communications 2016; 7: 12923. PMID: In Process PMCID: 5059478 |
| Zhou, Pingzhu; Pu, William T. | Recounting Cardiac Cellular Composition | 2016 | Circ Res 2016 Feb 5; 118(3):368-70 PMID: 26846633 PMC ID: 4755297 |
| Whalen, Sean; Truty, Rebecca M; Pollard, Katherine S. | Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin. | 2016 | Nat Genet 2016 May; 48(5):488-96 PMID: 27064255 PMC ID: 4910881 |
| Karanth, Santhosh; Zinkhan, Erin K; Hill, Jonathon T; Yost, H Joseph; Schlegel, Amnon. | FOXN3 Regulates Hepatic Glucose Utilization. | 2016 | Cell Rep 2016 Jun 21; 15(12):2745-55 PMID: 27292639 PMC ID: 4917433 |
| Thomas R, Thomas S, Holloway A, Pollard K. | Features that define the best ChIP-seq peak calling algorithms | 2016 | Briefings In Bioinformatics, 2016, 10. PMID: 27169896; PMCID: In process. |
| Ang Y, Rivas R, Ribeiro A, Srivas R, Rivera J, Stone N, Pratt K, Mohamed T, Fu J, Spencer C, Tippens N, Li M, Narasimha A, Radzinsky E, Moon-Grady A, Yu H, Pruitt B, Snyder M, Srivastava D. | Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis | 2016 | Cell Dec 2016, Vol 167, Issue 7, 1734â1749.e22 |
| Refaat, Marwan M; Fahed, Akl C; Hassanieh, Sylvana; Hotait, Mostafa; Arabi, Mariam; Skouri, Hadi; Seidman, Jonathan G; Seidman, Christine E; Bitar, Fadi F; Nemer, Georges. | The Muscle-Bound Heart | 2016 | Card Electrophysiol Clin 2016 Mar; 8(1):223-31 PMID: 26920199 PMC ID: In Process |
| Edwards, Jonathan J; Gelb, Bruce D. | Genetics of Congential Heart Disease | 2016 | Curr Opin Cardiol 2016 May; 31(3):235-41 PMID: 26872209 PMC ID: 4868504 |
| Luna-Zurita, Luis; Stirnimann, Christian U; Glatt, Sebastian; Kaynak, Bogac L; Thomas, Sean; Baudin, Florence; Samee, Md Abul Hassan; He, Daniel; Small, Eric M; Mileikovsky, Maria; Nagy, Andras; Holloway, Alisha K; Pollard, Katherine S; Müller, Christoph W; Bruneau, Benoit G. | Complex Interdependence Regulates Heterotypic Transcription Factor Distribution and Coordinates Cardiogenesis | 2016 | Cell 2016 Feb 25; 164(5):999-1014 PMID: 26875865 PMC ID: 4769693 |
| Haliburton, Genevieve D E; McKinsey, Gabriel L; Pollard, Katherine S. | Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development. | 2016 | Neurogenetics 2016 Jan; 17(1):1-9 PMID: 26382291 PMC ID: 4701781 |
| Priest, James R; Osoegawa, Kazutoyo; Mohammed, Nebil; Nanda, Vivek; Kundu, Ramendra; Schultz, Kathleen; Lammer, Edward J; Girirajan, Santhosh; Scheetz, Todd; Waggott, Daryl; Haddad, Francois; Reddy, Sushma; Bernstein, Daniel; Burns, Trudy; Steimle, Jeffrey D; Yang, Xinan H; Moskowitz, Ivan P; Hurles, Matthew; Lifton, Richard P; Nickerson, Debbie; Bamshad, Michael; Eichler, Evan E; Mital, Seema; Sheffield, Val; Quertermous, Thomas; Gelb, Bruce D; Portman, Michael; Ashley, Euan A. | De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. | 2016 | PLoS Genet 2016 Apr 8; 12(4) PMID: 27058611 PMC ID: 4825975 |
| Barozzi, Iros; Visel, Axel; Dickel, Diane E. | Fishing for Function in the Human Gene Pool | 2016 | Trends Genet 2016 Jul; 32(7):392-4 PMID: 27220646 PMC ID: 4912909 |
| Day DS, Zhang B, Stevens SM, Ferrari F, Larschan EN, Park PJ, Pu WT | Comprehensive analysis of promoter-proximal RNA polymerase II pausing across mammalian cell types. | 2016 |  Genome Biol. 2016 Jun 3;17(1):120. PMID: 27259512 |
| Stevens, Sean M; Gise, Alexander von; VanDusen, Nathan; Zhou, Bin; Pu, William T. | Epicardium is required for cardiac seeding by yolk sac macrophages, precursors of resident macrophages of the adult heart | 2016 | Dev Biol 2016 May 15; 413(2):153-9 PMID: 26988120 PMC ID: In Process |
| Ang, Siang-Yun; Uebersohn, Alec; Spencer, C Ian; Huang, Yu; Lee, Ji-Eun; Ge, Kai; Bruneau, Benoit G. | KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. | 2016 | Development 2016 Mar 1; 143(5):810-21 PMID: 26932671 PMC ID: 4813342 |
| Lin Z, Guo H, Cao Y, Zohrabian S, Zhou P, Ma Q, VanDusen N, Guo Y, Zhang J, Stevens S, Liang F, Quan Q,van Gorp PR, Li A, dos Remedios C, He A, Bezzerides VJ, Pu W | Acetylation of VGLL4 regulates Hippo-YAP signaling and postnatal | 2016 | Dev Cell |
| Zhang Y, Cao N, Huang Y, Spencer CI, Fu JD, Yu C, Liu K, Nie B, Xu T, Li K, Xu | Expandable Cardiovascular Progenitor Cells Reprogrammed from Fibroblasts | 2016 | Cell Stem Cell |
| McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton R, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman JG, Gelb BD, Seidman CE. | Loss of RNA expression and allele-specific expression associated with congenital heart disease | 2016 | Nat Commun |
| Gelb, BD | The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency | 2016 | PLoS Bio |
| DeLaughter, DM; Clark, CR; Christodoulou, DC; Seidman, CE; Baldwin, HS; et al | Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGF?R3 In Vitro. | 2016 | PLoS One |
| Hota, SK; Bruneau, BG | ATP-dependent chromatin remodeling during mammalian development. | 2016 | Development |
| van der Harst, P; van Setten, J; Verweij, N; Vogler, G; Franke, L; et al. | 52 Genetic Loci Influencing Myocardial Mass. | 2016 | J Am Coll Cardiol |
| Wang, Xinchen; Tucker, Nathan R; Rizki, Gizem; Mills, Robert; Krijger, Peter Hl; de Wit, Elzo; Subramanian, Vidya; Bartell, Eric; Nguyen, Xinh-Xinh; Ye, Jiangchuan; Leyton-Mange, Jordan; Dolmatova, Elena V; van der Harst, Pim; de Laat, Wouter; Ellinor, Pa | Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures. | 2016 | eLife |
| Ye, W; Song, Y; Huang, Z; Osterwalder, M; Ljubojevic, A; et al. | A unique stylopod patterning mechanism by Shox2-controlled osteogenesis. | 2016 | Development |
| Sheth, R; Barozzi, I; Langlais, D; Osterwalder, M; Nemec, S; et al. | Distal Limb Patterning Requires Modulation of cis-Regulatory Activities by HOX13. | 2016 | Cell Rep |
| Huang, ZP; Ding, Y; Chen, J; Wu, G; Kataoka, M; et al. | Long non-coding RNAs link extracellular matrix gene expression to ischemic cardiomyopathy. | 2016 | Cardiovascular research |
| Spurrell, CH; Dickel, DE; Visel, A | The Ties That Bind: Mapping the Dynamic Enhancer-Promoter Interactome. | 2016 | Cell |
| Li, Y; Yagi, H; Onuoha, EO; Damerla, RR; Francis, R; et al. | DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. | 2016 | PLoS genetics |
| San Agustin, JT; Klena, N; Granath, K; Panigrahy, A; Stewart, E: et al. | Genetic link between renal birth defects and congenital heart disease. | 2016 | Nature communications |
| Hu, Hao; Coon, Hilary; Li, Man; Yandell, Mark; Huff, Chad D | VARPRISM: incorporating variant prioritization in tests of de novo mutation association | 2016 | Genome Medicine |
| Alexander JM, Hota SK, He D, Thomas S, Ho L, Pennacchio LA, Bruneau BG. | Brg1 modulates enhancer activation in mesoderm lineage commitment. | 2015 | Development. 2015 Apr 15;142(8):1418-30. doi: 10.1242/dev.109496. Epub 2015 Mar 26. PMID: 25813539; PMCID: PMC4392595. |
| Damerla RR, Cui C, Gabriel GC, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Equether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW. | Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies | 2015 | Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15. PMID: 25877302; PMCID: PMC4476446. |
| Jiang, Jianming; Burgon, Patrick G; Wakimoto, Hiroko; Onoue, Kenji; Gorham, Joshua M; O'Meara, Caitlin C; Fomovsky, Gregory; McConnell, Bradley K; Lee, Richard T; Seidman, J G; Seidman, Christine E. | Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis. | 2015 | Proc Natl Acad Sci U S A 2015 Jul 21; 112(29):9046-51 PMID: 26153423 PMC ID: 4517252 |
| Gelb, Bruce D. | Complex genetics and the etiology of human congenital heart disease | 2015 | Circ Cardiovasc Genet 2015 Jun; 8(3):529-36 PMID: 26082554 PMC ID: 4870049 |
| Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter Jr. GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. | De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. | 2015 | Science, 2015; 350(6265):1262-1266. PMID: 26785492; PMCID: 4890146. |
| Gittelman, Rachel M; Hun, Enna; Ay, Ferhat; Madeoy, Jennifer; Pennacchio, Len; Noble, William S; Hawkins, R David; Akey, Joshua M. | Comprehensive identification and analysis of human accelerated regulatory DNA. | 2015 | Genome Res 2015 Sep; 25(9):1245-55 PMID: 26104583 PMC ID: 4561485 |
| Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, OâRegan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR & Hurles ME for the DDD study. | Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families | 2015 | Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5. PMID: 26437029; PMCID: in process. |
| Nobuta, Hiroko; Cilio, Maria Roberta; Danhaive, Olivier; Tsai, Hui-Hsin; Tupal, Srinivasan; Chang, Sandra M; Murnen, Alice; Kreitzer, Faith; Bravo, Verenice; Czeisler, Catherine; Gokozan, Hamza Numan; Gygli, Patrick; Bush, Sean; Weese-Mayer, Debra E; Conklin, Bruce; Yee, Siu-Pok; Huang, Eric J; Gray, Paul A; Rowitch, David; Otero, José Javier. | Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. | 2015 | Acta Neuropathol 2015 Aug; 130(2):171-83 PMID: 25975378 PMC ID: 4503865 |
| Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze J-F, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW & Gordon CT. | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates | 2015 | Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. PMID: 26437028; PMCID: in process. |
| Musunuru, Kiran; Hickey, Kathleen T; Al-Khatib, Sana M; Delles, Christian; Fornage, Myriam; Fox, Caroline S; Frazier, Lorraine; Gelb, Bruce D; Herrington, David M; Lanfear, David E; Rosand, Jonathan; American Heart Association Council on Functional Genomics and Translational Biology,Council on Clinical Cardiology, Council on Cardiovascular Disease in the Young, Council on Cardiovascular and Stroke Nursing, Council on Epidemiology and Prevention, Council on Hypertension, Council on Lifestyle and Cardiometabolic Health, Council on Quality of Care and Outcomes Research, and Stroke Council. | Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association. | 2015 | Circ Cardiovasc Genet 2015 Feb; 8(1):216-42 PMID: 25561044 PMC ID: 4887701 |
| Theodoris CV, Li M, White MP, Liu L, He D, Pollard KS, Bruneau BG, Srivastava D. | Human disease modeling reveals integrated transcriptional and epigenetic mechanisms of NOTCH1 haploinsufficiency. | 2015 | Cell. 2015 Mar 12;160(6):1072-86. doi: 10.1016/j.cell.2015.02.035. PMID: 25768904; PMCID: PMC4359747. |
| Abou Hassan, Ossama K; Fahed, Akl C; Batrawi, Manal; Arabi, Mariam; Refaat, Marwan M; DePalma, Steven R; Seidman, J G; Seidman, Christine E; Bitar, Fadi F; Nemer, Georges M. | NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. | 2015 | Sci Rep 2015 Mar 6; 5:8848 PMID: 25742962 PMC ID: 4351524 |
| Percival, Stefanie M; Thomas, Holly R; Amsterdam, Adam; Carroll, Andrew J; Lees, Jacqueline A; Yost, H Joseph; Parant, John M. | Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome. | 2015 | Dis Model Mech 2015 Aug 1; 8(8):941-55 PMID: 26044958 PMC ID: 4527282 |
| Czarnecki PG, Gabriel GC, Manning DK, Sergeev M, Lemke K, Klena NT, Liu X, Chen y, Li Y, San Agustin JT, Garnaas MK, Francis RJ, Tobita K, Goessling W, Pazour GJ, Lo CW, Beier DR, and Shah JV. | ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning. | 2015 | Nat Comms, 2015, 20 Jan. DOI: 10.1038/ncomms7023. PMID: 25599650; PMCID: PMC4361001. |
| Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR., Chang C-F, Yagi H, San Agustin JT, Thahir M, Anderton S, Lawhead C, Vescovi A., Pratt H, Morgan J, Haynes L, Smith CL, Eppig JT, Reinholdt L, Francis R, Leatherbury L, Ganapathiraju MK, Tobita K, Pazour GJ, Lo CW. | Global genetic analysis in mice unveils central role for cilia in congenital heart disease. | 2015 | Nature. 2015 May 28;521(7553):520-4. doi: 10.1038/nature14269. Epub 2015 Mar 25. PMID: 25807483; PMCID: PMC4617540. |
| Kostka D, Friedrich T, Holloway AK, Pollard KS. | motifDiverge: a model for assessing the statistical significance of gene regulatory motif divergence between two DNA sequences | 2015 | Statistics and Its Interface. 2015; 8(4): 463-476. PMID: 26709360; PMCID: PMC4689439. |
| Nash, Dustin; Arrington, Cammon B; Kennedy, Brett J; Yandell, Mark; Wu, Wilfred; Zhang, Wenying; Ware, Stephanie; Jorde, Lynn B; Gruber, Peter J; Yost, H Joseph; Bowles, Neil E; Bleyl, Steven B. | Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR). | 2015 | PLoS One 2015 Jun 29; 10(6): PMID: 26121141 PMC ID: 4485409 |
| Erwin GD, Oksenberg N, Truty RM, Kosta K, Murphy KK, Ahituv N, Pollard KS, Capra JA. | Integrating diverse datasets improves developmental enhancer prediction | 2014 | PLoS Computational Biology 2014; 10(6):e1003677. PMID: 24967590; PMCI: PMC4072507. |
| Li K, Wang G, Andersen T, Zhou P, Pu WT. | Optimization of genome engineering approaches with the CRISPR/Cas9 system | 2014 | PLos One 2014; 9(8):e105779. PMID: 25166277; PMCID: PMC4148324. |
| Backenroth D, Homsy J, Murillo L, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung W, Shen Y. | CANOES: detecting rare copy number variants from whole exome sequencing data | 2014 | Nucleic Acids Research 2014; 42(12):e97. PMID: 24771342; PMCID: PMC4081054. |
| Dickel DE, Zhu Y, Nord AS, Wylie JN, Akiyama JA, Afzal V, Plajzer-Frick I, Kirkpatrick A, Gottgens B, Bruneau BG, Visel A, Pennacchio LA. | Function-based identification of mammalian enhancers using site-specific integration | 2014 | Nat Methods 2014; 11(5):566-571. PMID: 24658141; PMCID: PMC4008384. |
| Lyozin GT, Bressloff PC, Kumar A, Kosaka Y, Demarest BL, Yost HJ, Kuehn MR, Brunelli L. | Isolation of rare recombinants without using selectable markers for one-step seamless BAC mutagenesis | 2014 | Nat Methods 2014; 11(9):966-970. PMID: 25028895; PMCID: PMC4149595. |
| Devine WP, Wythe JD, George M, Koshiba-Takeuchi K, Bruneau BG. | Early patterning and specification of cardiac progenitors in gastrulating mesoderm | 2014 | eLife 2014; Oct 8; 3. doi: 10.7665/eLife.03848. PMID: 25296024; PMCID: PMC4356145. |
| Delgado-Olguin PD, Dang LT, He D, Thomas S, Chi L, Sukonnik T, Khyzha N, Dobenecker M-W, Fish JE, Bruneau BG. | Ezh2-mediated repression of a transcriptional pathway upstream of Mmp9 maintains integrity of the developing vasculature | 2014 | Development 2014; 141(23):4610-7. PMID: 25359725; PMCID: PMC4302930. |
| Thomas S, Underwood JG, Tseng E, Holloway AK. | Long-read sequencing of chicken transcripts and identification of new transcript isoforms | 2014 | PLoS One 2014; 9(4):e94650. PMID: 24736250; PMCID: PMC3988055. |
| Williams AG, Thomas S, Wyman SK, Holloway, AK. | RNA-seq data: challenges in and recommendations for experimental design and analysis | 2014 | Curr Protoc Hum Genet 2014; 83:11.13.1-11.13.20. PMID: 25271838; PMCID: PMC25271838. |
| Oksenberg, N; Haliburton, G D E; Eckalbar, W L; Oren, I; Nishizaki, S; Murphy, K; Pollard, K S; Birnbaum, R Y; Ahituv, N. | Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. | 2014 | Transl Psychiatry 2014 Sep 2; 4:e431Â PMID: 25180570 PMC ID: 4199417 |
| Gelb, Bruce D; Chung, Wendy K. | Complex genetics and the etiology of human congenital heart disease | 2014 | Cold Spring Harb Perspect Med 2014 Jul 1; 4(7):a013953 PMID: 24985128 PMC ID: 4066638 |
| Hill JT, Demarest BL, Bisgrove BW, Su YC, Smith M, Yost HJ. | Poly peak parser: Method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products. | 2014 | Dev Dyn., 2014, Dec;243(12):1632-6. doi: 10.1002/dvdy.24183. Epub 2014 Sep 30. PMID: 25160973; PMCID: PMC4525701 [Available on 2015-12-01]. |
| Glessner J, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia MJ, Leipzig J, DePalma S, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman JG, Hakonarson H, Chung WK. | Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data | 2014 | Circ Res 2014;  115(10):884-896. PMID: 25205790; PMCID: PMC4209190. |
| Brown JR, Zetsche B, Jackson-Grusby L. | RUSH & CRUSH: a rapid and conditional RNA interference method in mice | 2014 | Genesis 2014; 52(1):39-48. PMID: 24166816; PMCID: PMC3985430. |
| Liu X, Francis R, Kim A, Ramirez R, Chen G, Subramanian R, Anderton S, Kim Y, Wang L, Morgan J, Pratt CH, Reinholdt L, Devine W, Leatherbury L, Tobita K, Lo CW. | Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen | 2014 | Circ Cardiovasc Imaging 2014; 7(1):31-42. PMID: 24319090; PMCID: PMC3962690. |
| He A, Gu F, Hu Y, Ma Q, Ye LY, Akiyama JA, Visel A, Pennachio LA, Pu WT. | Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease | 2014 | Nature Comms 2014; 5;4907. PMID: 25249388; PMCID: PMC4236193. |
| Damerla RR, Chatterjee B, Li Y, Francis JB, Fatakia SN, Lo CW. | Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis | 2014 | Mamm Genome 2014; 25(3-4):120-128. PMID: 24306492; NIHMSID: NIHMS546518. |
| Eminaga S, Christodoulou DC, Vigneault F, Church GM, Seidman JG. | Quantification of microRNA expression with next-generation sequencing | 2013 | Curr Protoc Mol Biol 2013; Chapter 4:Unit 4.17. PMID: 23821442; NIHMSID: NIHMS506236. |
| Klattenhoff C, Scheuermann JC, Surface LE, Bradley RK, Fields PA, Steinhauser ML, Ding H, Butty VL, Torrey L, Haas S, Abo R, Tabebordbar M, Lee RT, Burge CB, Boyer LA. | Braveheart, a long non-coding RNA required for cardiovascular lineage commitment | 2013 | Cell 2013; 152(3):570-583. PMID: 23352431; PMCID: PMC3563769. |
| Liu X, Tobita K, Francis RJ, Lo CW. | Imaging techniques for visualizing and phenotyping congenital heart defects in murine models | 2013 | Birth Defects Res C Embryo Today 2013 Jun; 99(2):93-105. PMID: 23897594; PMCID: PMC3962687. |
| Lui KO, Zangi L, Silva EA, Bu L, Sahara M, Li RA, Mooney DJ, Chien KR. | Driving vascular endothelial cell fate of human multipotent Isl1+ heart progenitors with VEGF modified mRNA | 2013 | Cell Res 2013; 23(10):1172-1186. PMID: 24018375; PMCID: PMC3790234. |
| Zhang B, Day DS, Ho JW, Song L, Cao J, Christodoulou D, Seidman JG, Crawford GE, Park PJ, Pu WT. | A dynamic H3K27ac signature identifies VEGFA-stimulated endothelial enhancers and requires EP300 activity | 2013 | Genome Res 2013; 23(6):917-927. PMID: 23547170; PMCID: PMC3668360. |
| Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia M, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts A, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. | De novo mutations in histone modifying genes in congenital heart disease | 2013 | Nature 2013; 498(7453):220-223. PMID: 23665959; PMCID: PMC2706629. |
| Jiang J, Wakimoto H, Seidman JG, Seidman CE. | Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy | 2013 | Science 2013; 342(6154):111-114. PMID: 24092743; PMCID: PMC4100553. |
| Maguire CT, Demarest BL, Hill JT, Palmer JD, Brothman AR, Yost HJ, Condic ML. | Genome-wide analysis reveals the unique stem cell identity of human amniocytes | 2013 | PLoS One 2013; 8(1):e53372. PMID: 23326421; PMCID: PMC3542377. |
| Yuan S, Zaidi S, Brueckner M. | Congenital heart disease: emerging themes linking genetics and development | 2013 | Curr Opin Genet Dev 2013; 23(3):352-359. PMID: 23790954; PMCID: PMC Journal in process. |
| Francis R, Lo C. | Ex vivo method for high resolution imaging of cilia motility in rodent airway epithelia | 2013 | J Vis Exp. 2013; (78), e50343. PMID: 23963287; PMCID: Unavailable - Video article. |
| DeLaughter DM, Christodoulou DC, Robinson JY, Seidman CE, Baldwin HS, Seidman JG, Barnett JV. | Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro | 2013 | J Mol Cell Cardiol 2013; 59:196-204. PMID: 23557753; PMCID: PMC3659811. |
| Wythe JD, Dang LTH, Devine WP, Boudreau E, Artap ST, He D, Schachterle W, Stainier DYR, Oettgen P, Black BL, Bruneau BG, Fish JE. | ETS factors regulate Vegf-dependent arterial specification | 2013 | Dev Cell 2013; 26(1):45-58. PMID: 23830865; PMCID: PMC3754838. |
| Kim AJ, Francis R, Liu X, Devine WA, Ramirez R, Anderton SJ, Wong LY, Faruque F, Gabriel GC, Chung W, Leatherbury L, Tobita K, Lo CW. | Microcomputed tomography provides high accuracy congenital heart disease diagnosis in neonatal and fetal mice | 2013 | Cir Cardiovasc Imaging 2013; 6(4):551-559. PMID: 23759365; PMCID: 505948. |
| Capra JA, Erwin GD, McKinsey G, Rubenstein JLR, Pollard KS. | Many human accelerated regions are developmental enhancers | 2013 | Philos Trans R Soc Lond B Biol Sci 2013; 368(1632):20130025. PMID: 24218637; PMCID: PMC3826498. |
| Pediatric Cardiac Genomics Consortium: Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E. | The Congenital Heart Disease Genetic Network Study (CHD GENES): rationale, design, and early results | 2013 | Circ Res 2013; 112(4):698-706. PMID: 23410879; PMCID: PMC3679175. |
| Fahed AC, Gelb BD, Seidman JG, Seidman CE. | Genetics of congenital heart disease: the glass half empty | 2013 | Circ Res 2013; 112(4):707-720. PMID: 23410880; PMCID: PMC3827691. |
| Potok ME, Nix DA, Parnell TJ, Cairns BR. | Reprogramming the maternal zebrafish genome after fertilization to match the paternal methylation pattern | 2013 | Cell 2013; 153:759-772. PMID: 23663776; PMCID: PMC3600721. |
| Capra JA, Stolzer M, Durand D, Pollard KS. | How old is my gene? | 2013 | Trends Genet 2013; 29(11):659â668. PMID: 23915718; PMCID: PMC3812327. |
| Costa MW, Guo G, Wolstein O, Vale M, Castro ML, Wang Libin, Otway R, Riek P, Cochrane N, Furtado M, Semsarian C, Weintraub RG, Yeoh T, Hayward C, Keogh A, Macdonald P, Feneley M, Graham RM, Seidman JG, Seidman CE, Rosenthal N, Fatkin D, Harvey RP. | Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy | 2013 | Circ Cardiovasc Genet 2013; 6(3):238-247. PMID: 23661673; PMCID: PMC3816146. |
| Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJF, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, UK10K16, Roepman R, Zariwala M, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. | DYX1C1 is required for axonemal dynein assembly and ciliary motility | 2013 | Nature Genetics 2013; 45(9):995-1003; PMID: 23872636; PMCID: PMC4000444. |
| Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. | A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record | 2013 | Genet Med 2013; 15(10):824-832. PMID: 24071794; PMCID: PMC3951437. |
| Scheuermann JC; Boyer LA. | Getting to the heart of the matter: long non-coding RNAs in cardiac development and disease | 2013 | EMBO J 2013; 32(13):1805-1816; PMID: 23756463; PMCID:PMC3981183. |
| Schröder S, Herker E, Itzen F, He D, Thomas S, Gilchrist DA, Kaehlcke K, Cho S, Pollard KS, Capra JA, Schnölzer M, Cole PA, Geyer M, Bruneau BG, Adelan K, Ott M. | Acetylation of RNA polymerase II regulates growth factor-induced gene transcription in mammalian cells | 2013 | Mol Cell 2013; 52(3):314-324. PMID: 24207025; NIHMSID: NIHMS562451. |
| Subramanian S, Di Pierro V, Shah H, Jayaprakash AD, Weisberger I, Shim J, George A, Gelb BD, Sachidanandam R. | MiST: a new approach to variant detection in deep sequencing datasets | 2013 | Nucleic Acids Res 2013; 41(16):e154. PMID: 23828039; PMCID: PMC3763541. |
| Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N. | A compact, in vivo screen of all 6-mers revelas drivers of tissue-specific expression and guides synthetic regulatory element design. | 2013 | Genome Biology 2013; 14(7):R72. PMID: 23867016; NIHMSID: NIHMS512991. |
| Srivastava D, Berry EC. | Cardiac reprogramming: from mouse toward man | 2013 | Curr Opin Genet 2013; 23(5):574-578. PMID: 23993230; PMCID: PMC3782415. |
| Srivastava D, Cordes Metzler KR. | Fending for a Braveheart | 2013 | EMBO J 2013; 32(9):1211-1213. PMID: 23524853; PMCID: PMC3642680. |
| Srivastava D, Heidersbach AJ. | Small solutions to big problems: microRNAs for cardiac regeneration | 2013 | Circ Res 2013; 112(11):1412-1414. PMID: 23704215; PMCID: PMC3760376. |
| Cui C, Chatterjee B, Lozito TP, Zhang Z, Francis RJ, Yagi H, Swanhart LM, Sanker S, Francis D, Yu Q, San Agustin JT, Puligilla C, Chatterjee T, Tansey T, Liu X, Kelley MW, Spiliotis ET, Kwiatkowski AV, Tuan R, Pazour GJ, Hukriede NA, Lo CW. | Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton | 2013 | PLoS Biol 2013; 11(11):e1001720. PMID: 24302887; PMCID: PMC3841097. |
| Worringer KA, Rand TA, Hayashi Y, Sami S, Takahashi K, Tanabe K, Narita M, Srivastava D, Yamanaka S. | The let-7/LIN-41 pathway regulates reprogramming to human induced pluripotent stem cells by controlling expression of prodifferentiation genes | 2013 | Cell Stem Cell 2013; 14(1):40-52. PMID: 24239284; PMCID: NIHMSID: NIHMS538439. |
| Hill JT, Demarest BL, Bisgrove BW, Gorsi B, Yost HJ. | MMAPPR: mutation mapping analysis pipeline for pooled RNA-seq | 2013 | Genome Res 2013; 23(4):687-697. PMID: 23299975; PMCID: PMC3613585. |
| White MP, Rufaihah AJ, Liu L, Ghebremariam YT, Ivey KN, Cooke JP, Srivastava D. | Limited gene expression variation in human embryonic stem cell and induced pluripotent stem cell-derived endothelial cells | 2013 | Stem Cells 2013; 31(1):92-103. PMID: 23079999; PMCID: PMC3528812. |
| Zhou P, Zhang Y, Ma Q, Gu F, Day DS, He A, Zhou B, Li J, Stevens S, Romo D, Park PJ, Pu WT. | Interrogating translational efficiency and lineage-specific transcriptomes using ribosome affinity purification | 2013 | Proc Natl Acad Sci U S A 2013; 110(38):15395-15400. PMID: 24003143; PMCID: PMC3780890. |
| Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Koehler G, Haeffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo C, Katsanis N, Omran H. | ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry | 2013 | Am J Hum Genet 2013; 93(2):357-367. PMID: 23849778; PMCID: PMC3738828. |
| He A, Shen X, Ma Q, Cao J, von Gise A, Zhou P, Wang G, Marquez VE, Orkin SH, Pu WT. | PRC2 directly methylates GATA4 and represses its transcriptional activity | 2012 | Genes Dev 2012; 26(1):37-42. PMID: 22215809; PMC3258964. |
| Tomoda K, Takahashi K, Leung K, Okada A, Narita M, Yamada NA, Eilertson KE, Tsang P, Baba S, White MP, Sami S, Srivastava D, Conklin BR, Panning B, Yamanaka S. | Derivation conditions impact X-inactivation status in female human induced pluripotent stem cells | 2012 | Cell Stem Cell 2012; 11(1):91-99. PMID: 22770243; PMC3396435. |
| Gelb BD, Seidman CE. | The Good SHP2 association: a porthole into the genetics of congenital heart disease | 2012 | Circ Cardiovasc Genet 2012; 5(3):271-273. PMID: 22715277; PMCID: PMC3380280. |
| Wamstad JA, Alexander JM, Truty RM, Shrikumar A, Li F, Eilertson KE, Ding H, Wylie JN, Pico AR, Capra JA, Erwin G, Kattman SJ, Keller GM, Srivastava D, Levine SS, Pollard KS, Holloway AK, Boyer LA, Bruneau BG. | Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage | 2012 | Cell 2012; 151(1):206-220. PMID: 22981692; PMCID: PMC3462286. |
| Bruneau BG. | Direct reprogramming for cardiac regeneration: from dream to reality | 2012 | Circ Res 2012; 110(11):1392-1394. PMID: 22628569; PMCID: PMC3391590. |
| Lahti AL, Kujala VJ, Chapman H, Koivisto AP, Pekkanen-Mattila M, Kerkelä E, Hyttinen J, Kontula K, Swan H, Conklin BR, Yamanaka S, Silvennoinen O, Aalto-Setälä K. | Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture | 2012 | Dis Model Mech 2012; 5(2):220-30. PMID: 22052944; PMC3291643. |
| Keady BT, Samtani R, Tobita K, Tsuchya M, San Agustin JT, Follit JA, Jonassen JA, Subramanian R, Lo CW, Pazour GJ. | IFT25 links the signal-dependent movement of hedgehog components to intraflagellar transport | 2012 | Dev Cell 2012; 22(5):940-951. PMID: 22595669; PMC3366633. |
| Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segre AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA. | Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development | 2012 | PNAS 2012; 109(35):14035-14040. PMID: 22904188; PMC3435181. |
| Chin AJ, Saint-Jeannet J-P, Lo CW. | How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease | 2012 | Mech Dev 2012; 129:75-97. PMID: 22640994; PMC3409324. |
| Hassel D, Cheng P, White MP, Ivey KN, Kroll J, Augustin HG, Katus HA, Stainier DYR, Srivastava D. | MicroRNA-10 regulates the angiogenic behavior of zebrafish and human endothelial cells by promoting vascular endothelial growth factor signaling | 2012 | Circ Res2012; 111(11):1421-1433. PMID: 22955733; PMCID: PMC3525481. |
| He A, Ma Q, Cao J, von Gise A, Zhou P, Xie H, Zhang B, Hsing M, Christodoulou DC, Cahan P, Daley GQ, Kong SW, Orkin SH, Seidman CE, Seidman JG, Pu WT. | Polycomb repressive complex 2 regulates normal development of the mouse heart | 2012 | Circ Res 2012; 110(3):406-415. PMID: 22158708;. PMC3282145. |
| Zhou P, He A, Pu WT. | Regulation of GATA4 transcriptional activity in cardiovascular development and disease | 2012 | Curr Top Dev Biol 2012; 100:143-169. PMID: 22449843; PMCID # unavailable; part of a book series. |
| Delgado-OlguÃn P, Huang Y, Li X, Christodoulou D, Seidman CE, Seidman JG, Tarakhovsky A, Bruneau BG. | Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis | 2012 | Nat Genet 2012; 44(3):343-347. PMID: 22267199; PMC3288669. |
| Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW. | Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome | 2012 | Dis Model Mech 2012; 4(1):43-56. PMID: 21045211; PMC3008963. |
| Ostrowski LE, Dutcher SK, Lo CW. | Cilia and models for studying structure and function | 2011 | Proc Am Thorac Soc 2011; 8(5):423-429. PMID: 21926393; PMC3209580. |
| Christodoulou DC, Gorham JM, Herman DS, Seidman JG. | Construction of normalized RNA-seq libraries for next-generation sequencing using the crab duplex-specific nuclease | 2011 | Curr Protoc Mol Biol 2011; Chapter: Unit 4.12. PMID: 21472699; PMC3152986; NIHMSID: NIHMS286089. |
| Kuttippurathu L, Hsing M, Liu Y, Schmidt B, Maskell DL, Lee K, He A, Pu WT, Kong SW. | CompleteMOTIFs: DNA motif discovery platform for transcription | 2011 | Bioinformatics 2011; 27(5):715-717. Epub 2010 Dec 23. PMID: 21183585; PMC3105477. |
| Alcalai R, Wakimoto H, Arad M, Planer D, Konno T, Wang L, Seidman JG, Seidman CE, Berul CI. | Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation | 2011 | Cardiovasc Electrophysiol 2011; 22(3):316-324. PMID: 20807279; PMC3053436. |
| He A, Kong SW, Ma Q, Pu WT. | Co-occupancy by multiple cardiac transcription factors identifies transcriptional enhancers active in heart | 2011 | Proc Natl Acad Sci U S A 2011; 108(4):5632-5637. PMID: 21415370; PMC3078411. |
| Hsiao EC, Nguyen TD, Ng JK, Scott MJ, Chang WC, Zahed H, Conklin BR. | Constitutive Gs activation using a single-construct | 2011 | Stem Cell Res Ther 2011; 2(2):11. PMID: 21375737; PMC3226282. |
| Salomonis N, Schlieve CR, Pereira L, Wahlquist C, Colas A, Zambon AC, Vranizan K, Spindler MJ, Pico AR, Cline MS, Clark TA, Williams A, Blume JE, Samal E, Mercola M, Merrill BJ, Conklin BR. | Alternative splicing regulates mouse embryonic stem cell pluripotency and differentiation | 2010 | Proc Natl Acad Sci U S A 2010; 107(23):10514-10519. PMID: 20498046; PMC2890851. |
| Salomonis N, Conklin BR. | Stem cell pluripotency: alternative modes of transcription regulation | 2010 | Cell Cycle. 2010; 9(16):3133-3134. PMID: 20814242; PMC3866144. |
| Yamada S, Samtani RR, Lee ES, Lockett E, Uwabe C, Shiota K, Anderson SA, Lo CW. | Developmental atlas of the early first trimester human embryo | 2010 | Dev Dyn 2010; 239(6):1585-1595. PMID: 20503356; PMC3401072. |
| van Laake LW, Qian L, Cheng P, Huang Y, Hsiao EC, Conklin BR, Srivastava D. | Reporter-based isolation of induced pluripotent stem cell- and embryonic stem cell-derived cardiac progenitors reveals limited gene expression variance | 2010 | Circ Res 2010; 107(3):340-347. PMID: 20558827; PMC2919280. |
| He A, Pu WT. | Genome-wide location analysis by pull down of in vivo biotinylated transcription factors | 2010 | Curr Protoc Mol Biol 2010; Chapter: Unit-21.20. PMID: 20890903; PMC3004968. |
Skip to content