Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 ExomesStaples, Jeffrey ; Maxwell, Evan K. ; Gosalia, Nehal ; Gonzaga-Jauregui, Claudia ; Snyder, Christopher ; Hawes, Alicia ; Penn, John ; Ulloa, Ricardo ; Bai, Xiaodong ; Lopez, Alexander E. ; Van Hout, Cristopher V. ; O’Dushlaine, Colm ; Teslovich, Tanya M. ; McCarthy, Shane E. ; Balasubramanian, Suganthi ; Kirchner, H. Lester ; Leader, Joseph B. ; Murray, Michael F. ; Ledbetter, David H. ; Shuldiner, Alan R. ; Yancoupolos, George D. ; Dewey, Frederick E. ; Carey, David J. ; Overton, John D. ; Baras, Aris ; Habegger, Lukas ; Reid, Jeffrey G.American journal of human genetics, 2018-05, Vol.102 (5), p.874-889 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
2 |
Material Type: Artigo
|
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyUsmani, Muhammad A. ; Ahmed, Zubair M. ; Magini, Pamela ; Pienkowski, Victor Murcia ; Rasmussen, Kristen J. ; Hernan, Rebecca ; Rasheed, Faiza ; Hussain, Mureed ; Shahzad, Mohsin ; Lanpher, Brendan C. ; Niu, Zhiyv ; Lim, Foong-Yen ; Pippucci, Tommaso ; Ploski, Rafal ; Kraus, Verena ; Matuszewska, Karolina ; Palombo, Flavia ; Kianmahd, Jessica ; Martinez-Agosto, Julian A. ; Lee, Hane ; Colao, Emma ; Motazacker, M. Mahdi ; Brigatti, Karlla W. ; Puffenberger, Erik G. ; Riazuddin, S. Amer ; Gonzaga-Jauregui, Claudia ; Chung, Wendy K. ; Wagner, Matias ; Schultz, Matthew J. ; Seri, Marco ; Kievit, Anneke J.A. ; Perrotti, Nicola ; Klein Wassink-Ruiter, J.S. ; van Bokhoven, Hans ; Riazuddin, Sheikh ; Riazuddin, SaimaAmerican journal of human genetics, 2021-07, Vol.108 (7), p.1330-1341 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
3 |
Material Type: Artigo
|
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationMendoza-Ferreira, Natalia ; Karakaya, Mert ; Cengiz, Nur ; Beijer, Danique ; Brigatti, Karlla W. ; Gonzaga-Jauregui, Claudia ; Fuhrmann, Nico ; Hölker, Irmgard ; Thelen, Maximilian P. ; Zetzsche, Sebastian ; Rombo, Roman ; Puffenberger, Erik G. ; De Jonghe, Peter ; Deconinck, Tine ; Zuchner, Stephan ; Strauss, Kevin A. ; Carson, Vincent ; Schrank, Bertold ; Wunderlich, Gilbert ; Baets, Jonathan ; Wirth, BrunhildeAmerican journal of human genetics, 2020-10, Vol.107 (4), p.763-777 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
4 |
Material Type: Artigo
|
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTan, Tiong Yang ; Gonzaga-Jauregui, Claudia ; Bhoj, Elizabeth J. ; Strauss, Kevin A. ; Brigatti, Karlla ; Puffenberger, Erik ; Li, Dong ; Xie, LiQin ; Das, Nanditha ; Skubas, Ioanna ; Deckelbaum, Ron A. ; Hughes, Virginia ; Brydges, Susannah ; Hatsell, Sarah ; Siao, Chia-Jen ; Dominguez, Melissa G. ; Economides, Aris ; Overton, John D. ; Mayne, Valerie ; Simm, Peter J. ; Jones, Bryn O. ; Eggers, Stefanie ; Le Guyader, Gwenaël ; Pelluard, Fanny ; Haack, Tobias B. ; Sturm, Marc ; Riess, Angelika ; Waldmueller, Stephan ; Hofbeck, Michael ; Steindl, Katharina ; Joset, Pascal ; Rauch, Anita ; Hakonarson, Hakon ; Baker, Naomi L. ; Farlie, Peter G.American journal of human genetics, 2017-12, Vol.101 (6), p.985-994 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
5 |
Material Type: Artigo
|
NR2F1 Mutations Cause Optic Atrophy with Intellectual DisabilityBosch, Daniëlle G.M. ; Boonstra, F. Nienke ; Gonzaga-Jauregui, Claudia ; Xu, Mafei ; de Ligt, Joep ; Jhangiani, Shalini ; Wiszniewski, Wojciech ; Muzny, Donna M. ; Yntema, Helger G. ; Pfundt, Rolph ; Vissers, Lisenka E.L.M. ; Spruijt, Liesbeth ; Blokland, Ellen A.W. ; Chen, Chun-An ; Lewis, Richard A. ; Tsai, Sophia Y. ; Gibbs, Richard A. ; Tsai, Ming-Jer ; Lupski, James R. ; Zoghbi, Huda Y. ; Cremers, Frans P.M. ; de Vries, Bert B.A. ; Schaaf, Christian P.American journal of human genetics, 2014-02, Vol.94 (2), p.303-309 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
6 |
Material Type: Artigo
|
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMorimoto, Marie ; Waller-Evans, Helen ; Ammous, Zineb ; Song, Xiaofei ; Strauss, Kevin A. ; Pehlivan, Davut ; Gonzaga-Jauregui, Claudia ; Puffenberger, Erik G. ; Holst, Charles R. ; Karaca, Ender ; Brigatti, Karlla W. ; Maguire, Emily ; Coban-Akdemir, Zeynep H. ; Amagata, Akiko ; Lau, C. Christopher ; Chepa-Lotrea, Xenia ; Macnamara, Ellen ; Tos, Tulay ; Isikay, Sedat ; Nehrebecky, Michele ; Overton, John D. ; Klein, Matthew ; Markello, Thomas C. ; Posey, Jennifer E. ; Adams, David R. ; Lloyd-Evans, Emyr ; Lupski, James R. ; Gahl, William A. ; Malicdan, May Christine V.American journal of human genetics, 2018-11, Vol.103 (5), p.794-807 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
7 |
Material Type: Artigo
|
Addressing the challenges of polygenic scores in human genetic researchNovembre, John ; Stein, Catherine ; Asgari, Samira ; Gonzaga-Jauregui, Claudia ; Landstrom, Andrew ; Lemke, Amy ; Li, Jun ; Mighton, Chloe ; Taylor, Matthew ; Tishkoff, SarahAmerican journal of human genetics, 2022-12, Vol.109 (12), p.2095-2100 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
8 |
Material Type: Artigo
|
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayKarolak, Justyna A. ; Vincent, Marie ; Deutsch, Gail ; Gambin, Tomasz ; Cogné, Benjamin ; Pichon, Olivier ; Vetrini, Francesco ; Mefford, Heather C. ; Dines, Jennifer N. ; Golden-Grant, Katie ; Dipple, Katrina ; Freed, Amanda S. ; Leppig, Kathleen A. ; Dishop, Megan ; Mowat, David ; Bennetts, Bruce ; Gifford, Andrew J. ; Weber, Martin A. ; Lee, Anna F. ; Boerkoel, Cornelius F. ; Bartell, Tina M. ; Ward-Melver, Catherine ; Besnard, Thomas ; Petit, Florence ; Bache, Iben ; Tümer, Zeynep ; Denis-Musquer, Marie ; Joubert, Madeleine ; Martinovic, Jelena ; Bénéteau, Claire ; Molin, Arnaud ; Carles, Dominique ; André, Gwenaelle ; Bieth, Eric ; Chassaing, Nicolas ; Devisme, Louise ; Chalabreysse, Lara ; Pasquier, Laurent ; Secq, Véronique ; Don, Massimiliano ; Orsaria, Maria ; Missirian, Chantal ; Mortreux, Jérémie ; Sanlaville, Damien ; Pons, Linda ; Küry, Sébastien ; Bézieau, Stéphane ; Liet, Jean-Michel ; Joram, Nicolas ; Bihouée, Tiphaine ; Scott, Daryl A. ; Brown, Chester W. ; Scaglia, Fernando ; Tsai, Anne Chun-Hui ; Grange, Dorothy K. ; Phillips, John A. ; Pfotenhauer, Jean P. ; Jhangiani, Shalini N. ; Gonzaga-Jauregui, Claudia G. ; Chung, Wendy K. ; Schauer, Galen M. ; Lipson, Mark H. ; Mercer, Catherine L. ; van Haeringen, Arie ; Liu, Qian ; Popek, Edwina ; Coban Akdemir, Zeynep H. ; Lupski, James R. ; Szafranski, Przemyslaw ; Isidor, Bertrand ; Le Caignec, Cedric ; Stankiewicz, PawełAmerican journal of human genetics, 2019-02, Vol.104 (2), p.213-228 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
9 |
Material Type: Artigo
|
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityKurolap, Alina ; Kreuder, Florian ; Gonzaga-Jauregui, Claudia ; Duvdevani, Morasha Plesser ; Harel, Tamar ; Tammer, Luna ; Xin, Baozhong ; Bakhtiari, Somayeh ; Rice, James ; van Eyk, Clare L. ; Gecz, Jozef ; Mah, Jean K. ; Atkinson, Derek ; Cope, Heidi ; Sullivan, Jennifer A. ; Douek, Alon M. ; Colquhoun, Daniel ; Henry, Jason ; Wlodkowic, Donald ; Parman, Yesim ; Candayan, Ayşe ; Kocasoy-Orhan, Elif ; Ilivitzki, Anat ; Soudry, Shiri ; Leibu, Rina ; Glaser, Fabian ; Sency, Valerie ; Ast, Gil ; Shashi, Vandana ; Fahey, Michael C. ; Battaloğlu, Esra ; Jordanova, Albena ; Meiner, Vardiella ; Innes, A. Micheil ; Wang, Heng ; Elpeleg, Orly ; Kruer, Michael C. ; Kaslin, Jan ; Baris Feldman, HagitAmerican journal of human genetics, 2022-03, Vol.109 (3), p.518-532 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
10 |
Material Type: Artigo
|
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye MalformationsRainger, Joe ; Pehlivan, Davut ; Johansson, Stefan ; Bengani, Hemant ; Sanchez-Pulido, Luis ; Williamson, Kathleen A. ; Ture, Mehmet ; Barker, Heather ; Rosendahl, Karen ; Spranger, Jürgen ; Horn, Denise ; Meynert, Alison ; Floyd, James A.B. ; Prescott, Trine ; Anderson, Carl A. ; Rainger, Jacqueline K. ; Karaca, Ender ; Gonzaga-Jauregui, Claudia ; Jhangiani, Shalini ; Muzny, Donna M. ; Seawright, Anne ; Soares, Dinesh C. ; Kharbanda, Mira ; Murday, Victoria ; Finch, Andrew ; Hurles, Matthew ; FitzPatrick, David R. ; Al-Turki, Saeed ; Anderson, Carl ; Barroso, Inês ; Beales, Philip ; Bentham, Jamie ; Bhattacharya, Shoumo ; Carss, Keren ; Chatterjee, Krishna ; Cirak, Sebhattin ; Cosgrove, Catherine ; Daly, Allan ; Floyd, Jamie ; Franklin, Chris ; Futema, Marta ; Humphries, Steve ; McCarthy, Shane ; Mitchison, Hannah ; Muntoni, Francesco ; Onoufriadis, Alexandros ; Parker, Victoria ; Payne, Felicity ; Plagnol, Vincent ; Raymond, Lucy ; Savage, David ; Scambler, Peter ; Schmidts, Miriam ; Semple, Robert ; Serra, Eva ; Stalker, Jim ; van Kogelenberg, Margriet ; Vijayarangakannan, Parthiban ; Walter, Klaudia ; Wood, Gretta ; Gibbs, Richard A. ; van Heyningen, Veronica ; Taylor, Martin S. ; Yakut, Tahsin ; Knappskog, Per M. ; Hurles, Matthew E. ; Ponting, Chris P. ; Lupski, James R. ; Houge, Gunnar ; FitzPatrick, David R.American journal of human genetics, 2014-06, Vol.94 (6), p.915-923 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |