31118289 | Create Study | Primary cilia defects causing mitral valve prolapse. | Science translational medicine | Toomer, Katelynn A; Yu, Mengyao; Fulmer, Diana; Guo, Lilong; Moore, Kelsey S; Moore, Reece; Drayton, Ka'la D; Glover, Janiece; Peterson, Neal; Ramos-Ortiz, Sandra; Drohan, Alex; Catching, Breiona J; Stairley, Rebecca; Wessels, Andy; Lipschutz, Joshua H; Delling, Francesca N; Jeunemaitre, Xavier; Dina, Christian; Collins, Ryan L; Brand, Harrison; Talkowski, Michael E; Del Monte, Federica; Mukherjee, Rupak; Awgulewitsch, Alexander; Body, Simon; Hardiman, Gary; Hazard, E Starr; da Silveira, Willian A; Wang, Baolin; Leyne, Maire; Durst, Ronen; Markwald, Roger R; Le Scouarnec, Solena; Hagege, Albert; Le Tourneau, Thierry; Kohl, Peter; Rog-Zielinska, Eva A; Ellinor, Patrick T; Levine, Robert A; Milan, David J; Schott, Jean-Jacques; Bouatia-Naji, Nabila; Slaugenhaupt, Susan A; Norris, Russell A | May 2019 | Not Determined |
28691782 | Create Study | A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. | American journal of medical genetics. Part A | Seabra, Catarina M; Szoko, Nicholas; Erdin, Serkan; Ragavendran, Ashok; Stortchevoi, Alexei; Maciel, Patrícia; Lundberg, Kathleen; Schlatzer, Daniela; Smith, Janice; Talkowski, Michael E; Gusella, James F; Natowicz, Marvin R | September 2017 | Not Determined |
28120936 | Create Study | Potential molecular consequences of transgene integration: The R6/2 mouse example. | Scientific reports | Jacobsen, Jessie C; Erdin, Serkan; Chiang, Colby; Hanscom, Carrie; Handley, Renee R; Barker, Douglas D; Stortchevoi, Alex; Blumenthal, Ian; Reid, Suzanne J; Snell, Russell G; MacDonald, Marcy E; Morton, A Jennifer; Ernst, Carl; Gusella, James F; Talkowski, Michael E | January 2017 | Not Determined |
28067909 | Create Study | SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. | Nature genetics | Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; Singh, Sylvia S; Patel, Nirav; Jing, Jenny W; Law, Jennifer R; Ferraro, Nalton; Verloes, Alain; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christina; Tryggestad, Jeanie; Chernausek, Steven; Schimmenti, Lisa A; Brasseur, Benjamin; Cesaretti, Claudia; García-Ortiz, Jose E; Buitrago, Tatiana Pineda; Silva, Orlando Perez; Hoffman, Jodi D; Mühlbauer, Wolfgang; Ruprecht, Klaus W; Loeys, Bart L; Shino, Masato; Kaindl, Angela M; Cho, Chie-Hee; Morton, Cynthia C; Meehan, Richard R; van Heyningen, Veronica; Liao, Eric C; Balasubramanian, Ravikumar; Hall, Janet E; Seminara, Stephanie B; Macarthur, Daniel; Moore, Steven A; Yoshiura, Koh-Ichiro; Gusella, James F; Marsh, Joseph A; Graham Jr, John M; Lin, Angela E; Katsanis, Nicholas; Jones, Peter L; Crowley Jr, William F; Davis, Erica E; FitzPatrick, David R; Talkowski, Michael E | February 2017 | Not Determined |
27841880 | Create Study | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. | Nature genetics | Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E | January 2017 | Not Determined |
27381092 | Create Study | Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. | European journal of human genetics : EJHG | Schilit, Samantha Lp; Currall, Benjamin B; Yao, Ruen; Hanscom, Carrie; Collins, Ryan L; Pillalamarri, Vamsee; Lee, Dong-Young; Kammin, Tammy; Zepeda-Mendoza, Cinthya J; Mononen, Tarja; Nolan, Lisa S; Gusella, James F; Talkowski, Michael E; Shen, Jun; Morton, Cynthia C | November 2016 | Not Determined |
26829649 | Create Study | Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. | Nature neuroscience | Tai, Derek J C; Ragavendran, Ashok; Manavalan, Poornima; Stortchevoi, Alexei; Seabra, Catarina M; Erdin, Serkan; Collins, Ryan L; Blumenthal, Ian; Chen, Xiaoli; Shen, Yiping; Sahin, Mustafa; Zhang, Chengsheng; Lee, Charles; Gusella, James F; Talkowski, Michael E | March 2016 | Not Determined |
26758871 | Create Study | Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. | Human molecular genetics | Mukherjee, Kusumika; Ishii, Kana; Pillalamarri, Vamsee; Kammin, Tammy; Atkin, Joan F; Hickey, Scott E; Xi, Qiongchao J; Zepeda, Cinthya J; Gusella, James F; Talkowski, Michael E; Morton, Cynthia C; Maas, Richard L; Liao, Eric C | April 2016 | Not Determined |
26258302 | Create Study | Mutations in DCHS1 cause mitral valve prolapse. | Nature | Durst, Ronen; Sauls, Kimberly; Peal, David S; deVlaming, Annemarieke; Toomer, Katelynn; Leyne, Maire; Salani, Monica; Talkowski, Michael E; Brand, Harrison; Perrocheau, Maëlle; Simpson, Charles; Jett, Christopher; Stone, Matthew R; Charles, Florie; Chiang, Colby; Lynch, Stacey N; Bouatia-Naji, Nabila; Delling, Francesca N; Freed, Lisa A; Tribouilloy, Christophe; Le Tourneau, Thierry; LeMarec, Hervé; Fernandez-Friera, Leticia; Solis, Jorge; Trujillano, Daniel; Ossowski, Stephan; Estivill, Xavier; Dina, Christian; Bruneval, Patrick; Chester, Adrian; Schott, Jean-Jacques; Irvine, Kenneth D; Mao, Yaopan; Wessels, Andy; Motiwala, Tahirali; Puceat, Michel; Tsukasaki, Yoshikazu; Menick, Donald R; Kasiganesan, Harinath; Nie, Xingju; Broome, Ann-Marie; Williams, Katherine; Johnson, Amanda; Markwald, Roger R; Jeunemaitre, Xavier; Hagege, Albert; Levine, Robert A; Milan, David J; Norris, Russell A; Slaugenhaupt, Susan A | September 3, 2015 | Not Determined |
26094575 | Create Study | Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. | American journal of human genetics | Brand, Harrison; Collins, Ryan L; Hanscom, Carrie; Rosenfeld, Jill A; Pillalamarri, Vamsee; Stone, Matthew R; Kelley, Fontina; Mason, Tamara; Margolin, Lauren; Eggert, Stacey; Mitchell, Elyse; Hodge, Jennelle C; Gusella, James F; Sanders, Stephan J; Talkowski, Michael E | July 2, 2015 | Not Determined |
25937446 | Study (344) | A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. | American journal of human genetics | Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C; Harewood, Louise; Kosmicki, Jack A; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M; Alfaiz, Ali Abdullah; 16p11.2 European Consortium; van Haelst, Mieke M; Andrieux, Joris; Gusella, James F; Daly, Mark J; Beckmann, Jacques S; Jacquemont, Sébastien; Talkowski, Michael E; Katsanis, Nicholas; Reymond, Alexandre | May 7, 2015 | Relevant |
25807484 | Study (367) | Loss of δ-catenin function in severe autism. | Nature | Turner, Tychele N; Sharma, Kamal; Oh, Edwin C; Liu, Yangfan P; Collins, Ryan L; Sosa, Maria X; Auer, Dallas R; Brand, Harrison; Sanders, Stephan J; Moreno-De-Luca, Daniel; Pihur, Vasyl; Plona, Teri; Pike, Kristen; Soppet, Daniel R; Smith, Michael W; Cheung, Sau Wai; Martin, Christa Lese; State, Matthew W; Talkowski, Michael E; Cook, Edwin; Huganir, Richard; Katsanis, Nicholas; Chakravarti, Aravinda | April 2, 2015 | Relevant |
25517468 | Create Study | Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9. | Cell stem cell | Mandal, Pankaj K; Ferreira, Leonardo M R; Collins, Ryan; Meissner, Torsten B; Boutwell, Christian L; Friesen, Max; Vrbanac, Vladimir; Garrison, Brian S; Stortchevoi, Alexei; Bryder, David; Musunuru, Kiran; Brand, Harrison; Tager, Andrew M; Allen, Todd M; Talkowski, Michael E; Rossi, Derrick J; Cowan, Chad A | November 6, 2014 | Not Determined |
25497101 | Create Study | Genomic and functional overlap between somatic and germline chromosomal rearrangements. | Cell reports | van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, et al. | December 24, 2014 | Not Determined |
25294932 | Create Study | CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. | Proceedings of the National Academy of Sciences of the United States of America | Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME | October 21, 2014 | Not Determined |
25279985 | Create Study | Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. | American journal of human genetics | Brand, Harrison; Pillalamarri, Vamsee; Collins, Ryan L; Eggert, Stacey; O'Dushlaine, Colm; Braaten, Ellen B; Stone, Matthew R; Chambert, Kimberly; Doty, Nathan D; Hanscom, Carrie; Rosenfeld, Jill A; Ditmars, Hillary; Blais, Jessica; Mills, Ryan; Lee, Charles; Gusella, James F; McCarroll, Steven; Smoller, Jordan W; Talkowski, Michael E; Doyle, Alysa E | October 2, 2014 | Not Determined |
25043231 | Create Study | Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing. | Prenatal diagnosis | Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D | March 2015 | Not Determined |
24996167 | Create Study | Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. | Cell stem cell | Veres A, Gosis BS, Ding Q, Collins R, Ragavendran A, Brand H, Erdin S, Cowan CA, Talkowski ME, Musunuru K | July 3, 2014 | Not Determined |
24906019 | Create Study | Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. | American journal of human genetics | Blumenthal, Ian; Ragavendran, Ashok; Erdin, Serkan; Klei, Lambertus; Sugathan, Aarathi; Guide, Jolene R; Manavalan, Poornima; Zhou, Julian Q; Wheeler, Vanessa C; Levin, Joshua Z; Ernst, Carl; Roeder, Kathryn; Devlin, Bernie; Gusella, James F; Talkowski, Michael E | June 5, 2014 | Not Determined |
24789519 | Create Study | Design of large-insert jumping libraries for structural variant detection using Illumina sequencing. | Current protocols in human genetics | Hanscom, C; Talkowski, M | 2014 | Not Determined |
24746958 | Create Study | Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. | American journal of human genetics | Ordulu, Zehra; Wong, Kristen E; Currall, Benjamin B; Ivanov, Andrew R; Pereira, Shahrin; Althari, Sara; Gusella, James F; Talkowski, Michael E; Morton, Cynthia C | May 1, 2014 | Not Determined |
24614762 | Create Study | Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Harvard review of psychiatry | Talkowski, Michael E; Minikel, Eric Vallabh; Gusella, James F | March 2014 | Not Determined |
24381304 | Create Study | Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. | Human molecular genetics | Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, et al. | May 15, 2014 | Not Determined |
23730541 | Create Study | Mechanisms for Structural Variation in the Human Genome. | Current genetic medicine reports | Currall, Benjamin B; Chiang, C; Talkowski, Michael E; Morton, Cynthia C | June 2013 | Not Determined |
23587880 | Create Study | Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. | Molecular psychiatry | Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, et al. | March 2014 | Not Determined |
23354975 | Create Study | Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. | Human genetics | Lindgren, Amelia M; Hoyos, Tatiana; Talkowski, Michael E; Hanscom, Carrie; Blumenthal, Ian; Chiang, Colby; Ernst, Carl; Pereira, Shahrin; Ordulu, Zehra; Clericuzio, Carol; Drautz, Joanne M; Rosenfeld, Jill A; Shaffer, Lisa G; Velsher, Lea; Pynn, Tania; Vermeesch, Joris; Harris, David J; Gusella, James F; Liao, Eric C; Morton, Cynthia C | May 2013 | Not Determined |
23332918 | Create Study | Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. | American journal of human genetics | Beunders, Gea; Voorhoeve, Els; Golzio, Christelle; Pardo, Luba M; Rosenfeld, Jill A; Talkowski, Michael E; Simonic, Ingrid; Lionel, Anath C; Vergult, Sarah; Pyatt, Robert E; van de Kamp, Jiddeke; Nieuwint, Aggie; Weiss, Marjan M; Rizzu, Patrizia; Verwer, Lucilla E N I; van Spaendonk, Rosalina M L; Shen, Yiping; Wu, Bai-lin; Yu, Tingting; Yu, Yongguo; Chiang, Colby; Gusella, James F; Lindgren, Amelia M; Morton, Cynthia C; van Binsbergen, Ellen; Bulk, Saskia; van Rossem, Els; Vanakker, Olivier; Armstrong, Ruth; Park, Soo-Mi; Greenhalgh, Lynn; Maye, Una; Neill, Nicholas J; Abbott, Kristin M; Sell, Susan; Ladda, Roger; Farber, Darren M; Bader, Patricia I; Cushing, Tom; Drautz, Joanne M; Konczal, Laura; Nash, Patricia; de Los Reyes, Emily; Carter, Melissa T; Hopkins, Elizabeth; Marshall, Christian R; Osborne, Lucy R; Gripp, Karen W; Thrush, Devon Lamb; Hashimoto, Sayaka; Gastier-Foster, Julie M; Astbury, Caroline; Ylstra, Bauke; Meijers-Heijboer, Hanne; Posthuma, Danielle; Menten, Björn; Mortier, Geert; Scherer, Stephen W; Eichler, Evan E; Girirajan, Santhosh; Katsanis, Nicholas; Groffen, Alexander J; Sistermans, Erik A | February 7, 2013 | Not Determined |
23215558 | Create Study | Clinical diagnosis by whole-genome sequencing of a prenatal sample. | The New England journal of medicine | Talkowski, Michael E; Ordulu, Zehra; Pillalamarri, Vamsee; Benson, Carol B; Blumenthal, Ian; Connolly, Susan; Hanscom, Carrie; Hussain, Naveed; Pereira, Shahrin; Picker, Jonathan; Rosenfeld, Jill A; Shaffer, Lisa G; Wilkins-Haug, Louise E; Gusella, James F; Morton, Cynthia C | December 2012 | Not Determined |