skip to main content
Refinado por: Nome da Publicação: American Journal Of Human Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
Material Type:
Artigo
Adicionar ao Meu Espaço

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

Staples, 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 Inc

Texto completo disponível

2
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Material Type:
Artigo
Adicionar ao Meu Espaço

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Usmani, 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, Saima

American journal of human genetics, 2021-07, Vol.108 (7), p.1330-1341 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

3
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
Material Type:
Artigo
Adicionar ao Meu Espaço

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Mendoza-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, Brunhilde

American journal of human genetics, 2020-10, Vol.107 (4), p.763-777 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

4
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
Material Type:
Artigo
Adicionar ao Meu Espaço

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tan, 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 Inc

Texto completo disponível

5
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
Material Type:
Artigo
Adicionar ao Meu Espaço

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Bosch, 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 Inc

Texto completo disponível

6
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
Material Type:
Artigo
Adicionar ao Meu Espaço

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Morimoto, 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 Inc

Texto completo disponível

7
Addressing the challenges of polygenic scores in human genetic research
Material Type:
Artigo
Adicionar ao Meu Espaço

Addressing the challenges of polygenic scores in human genetic research

Novembre, John ; Stein, Catherine ; Asgari, Samira ; Gonzaga-Jauregui, Claudia ; Landstrom, Andrew ; Lemke, Amy ; Li, Jun ; Mighton, Chloe ; Taylor, Matthew ; Tishkoff, Sarah

American journal of human genetics, 2022-12, Vol.109 (12), p.2095-2100 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

8
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Material Type:
Artigo
Adicionar ao Meu Espaço

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Karolak, 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, Paweł

American journal of human genetics, 2019-02, Vol.104 (2), p.213-228 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

9
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Material Type:
Artigo
Adicionar ao Meu Espaço

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Kurolap, 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, Hagit

American journal of human genetics, 2022-03, Vol.109 (3), p.518-532 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

10
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
Material Type:
Artigo
Adicionar ao Meu Espaço

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Rainger, 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 Inc

Texto completo disponível

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
  1. Antes de2010  (1)
  2. 2010Até2013  (2)
  3. 2014Até2016  (2)
  4. 2017Até2018  (3)
  5. Após 2018  (5)
  6. Mais opções open sub menu

Buscando em bases de dados remotas. Favor aguardar.