Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesChong, Jessica X. ; Buckingham, Kati J. ; Jhangiani, Shalini N. ; Boehm, Corinne ; Sobreira, Nara ; Smith, Joshua D. ; Harrell, Tanya M. ; McMillin, Margaret J. ; Wiszniewski, Wojciech ; Gambin, Tomasz ; Coban Akdemir, Zeynep H. ; Doheny, Kimberly ; Scott, Alan F. ; Avramopoulos, Dimitri ; Chakravarti, Aravinda ; Hoover-Fong, Julie ; Mathews, Debra ; Witmer, P. Dane ; Ling, Hua ; Hetrick, Kurt ; Watkins, Lee ; Patterson, Karynne E. ; Reinier, Frederic ; Blue, Elizabeth ; Muzny, Donna ; Kircher, Martin ; Bilguvar, Kaya ; López-Giráldez, Francesc ; Sutton, V. Reid ; Tabor, Holly K. ; Leal, Suzanne M. ; Gunel, Murat ; Mane, Shrikant ; Gibbs, Richard A. ; Boerwinkle, Eric ; Hamosh, Ada ; Shendure, Jay ; Lupski, James R. ; Lifton, Richard P. ; Valle, David ; Nickerson, Deborah A. ; Bamshad, Michael J.American journal of human genetics, 2015-08, Vol.97 (2), p.199-215 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
2 |
Material Type: Artigo
|
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function AllelesCoban-Akdemir, Zeynep ; White, Janson J. ; Song, Xiaofei ; Jhangiani, Shalini N. ; Fatih, Jawid M. ; Gambin, Tomasz ; Bayram, Yavuz ; Chinn, Ivan K. ; Karaca, Ender ; Punetha, Jaya ; Poli, Cecilia ; Boerwinkle, Eric ; Shaw, Chad A. ; Orange, Jordan S. ; Gibbs, Richard A. ; Lappalainen, Tuuli ; Lupski, James R. ; Carvalho, Claudia M.B.American journal of human genetics, 2018-08, Vol.103 (2), p.171-187 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
3 |
Material Type: Artigo
|
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromePoli, M. Cecilia ; Ebstein, Frédéric ; Nicholas, Sarah K. ; de Guzman, Marietta M. ; Forbes, Lisa R. ; Chinn, Ivan K. ; Mace, Emily M. ; Vogel, Tiphanie P. ; Carisey, Alexandre F. ; Benavides, Felipe ; Coban-Akdemir, Zeynep H. ; Gibbs, Richard A. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Carvalho, Claudia M.B. ; Schady, Deborah A. ; Jain, Mahim ; Rosenfeld, Jill A. ; Emrick, Lisa ; Lewis, Richard A. ; Lee, Brendan ; Zieba, Barbara A. ; Küry, Sébastien ; Krüger, Elke ; Lupski, James R. ; Bostwick, Bret L. ; Orange, Jordan S.American journal of human genetics, 2018-06, Vol.102 (6), p.1126-1142 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
4 |
Material Type: Artigo
|
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow SyndromeWhite, Janson ; Mazzeu, Juliana F. ; Hoischen, Alexander ; Jhangiani, Shalini N. ; Gambin, Tomasz ; Alcino, Michele Calijorne ; Penney, Samantha ; Saraiva, Jorge M. ; Hove, Hanne ; Skovby, Flemming ; Kayserili, Hülya ; Estrella, Elicia ; Vulto-van Silfhout, Anneke T. ; Steehouwer, Marloes ; Muzny, Donna M. ; Sutton, V. Reid ; Gibbs, Richard A. ; Lupski, James R. ; Brunner, Han G. ; van Bon, Bregje W.M. ; Carvalho, Claudia M.B.American journal of human genetics, 2015-04, Vol.96 (4), p.612-622 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
5 |
Material Type: Artigo
|
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide PhosphataseCampeau, Philippe M. ; Lenk, Guy M. ; Lu, James T. ; Bae, Yangjin ; Burrage, Lindsay ; Turnpenny, Peter ; Román Corona-Rivera, Jorge ; Morandi, Lucia ; Mora, Marina ; Reutter, Heiko ; Vulto-van Silfhout, Anneke T. ; Faivre, Laurence ; Haan, Eric ; Gibbs, Richard A. ; Meisler, Miriam H. ; Lee, Brendan H.American journal of human genetics, 2013-05, Vol.92 (5), p.781-791 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
6 |
Material Type: Artigo
|
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritancePehlivan, Davut ; Bayram, Yavuz ; Gunes, Nilay ; Coban Akdemir, Zeynep ; Shukla, Anju ; Bierhals, Tatjana ; Tabakci, Burcu ; Sahin, Yavuz ; Gezdirici, Alper ; Fatih, Jawid M. ; Gulec, Elif Yilmaz ; Yesil, Gozde ; Punetha, Jaya ; Ocak, Zeynep ; Grochowski, Christopher M. ; Karaca, Ender ; Albayrak, Hatice Mutlu ; Radhakrishnan, Periyasamy ; Erdem, Haktan Bagis ; Sahin, Ibrahim ; Yildirim, Timur ; Bayhan, Ilhan A. ; Bursali, Aysegul ; Elmas, Muhsin ; Yuksel, Zafer ; Ozdemir, Ozturk ; Silan, Fatma ; Yildiz, Onur ; Yesilbas, Osman ; Isikay, Sedat ; Balta, Burhan ; Gu, Shen ; Jhangiani, Shalini N. ; Doddapaneni, Harsha ; Hu, Jianhong ; Muzny, Donna M. ; Boerwinkle, Eric ; Gibbs, Richard A. ; Tsiakas, Konstantinos ; Hempel, Maja ; Girisha, Katta Mohan ; Gul, Davut ; Posey, Jennifer E. ; Elcioglu, Nursel H. ; Tuysuz, Beyhan ; Lupski, James R.American journal of human genetics, 2019-07, Vol.105 (1), p.132-150 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
7 |
Material Type: Artigo
|
DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeWhite, Janson J. ; Mazzeu, Juliana F. ; Hoischen, Alexander ; Bayram, Yavuz ; Withers, Marjorie ; Gezdirici, Alper ; Kimonis, Virginia ; Steehouwer, Marloes ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Gibbs, Richard A. ; van Bon, Bregje W.M. ; Sutton, V. Reid ; Lupski, James R. ; Brunner, Han G. ; Carvalho, Claudia M.B.American journal of human genetics, 2016-03, Vol.98 (3), p.553-561 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
8 |
Material Type: Artigo
|
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesHarel, Tamar ; Yoon, Wan Hee ; Garone, Caterina ; Gu, Shen ; Coban-Akdemir, Zeynep ; Eldomery, Mohammad K. ; Posey, Jennifer E. ; Jhangiani, Shalini N. ; Rosenfeld, Jill A. ; Cho, Megan T. ; Fox, Stephanie ; Withers, Marjorie ; Brooks, Stephanie M. ; Chiang, Theodore ; Duraine, Lita ; Erdin, Serkan ; Yuan, Bo ; Shao, Yunru ; Moussallem, Elie ; Lamperti, Costanza ; Donati, Maria A. ; Smith, Joshua D. ; McLaughlin, Heather M. ; Eng, Christine M. ; Walkiewicz, Magdalena ; Xia, Fan ; Pippucci, Tommaso ; Magini, Pamela ; Seri, Marco ; Zeviani, Massimo ; Hirano, Michio ; Hunter, Jill V. ; Srour, Myriam ; Zanigni, Stefano ; Lewis, Richard Alan ; Muzny, Donna M. ; Lotze, Timothy E. ; Boerwinkle, Eric ; Gibbs, Richard A. ; Hickey, Scott E. ; Graham, Brett H. ; Yang, Yaping ; Buhas, Daniela ; Martin, Donna M. ; Potocki, Lorraine ; Graziano, Claudio ; Bellen, Hugo J. ; Lupski, James R.American journal of human genetics, 2016-10, Vol.99 (4), p.831-845 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
9 |
Material Type: Artigo
|
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeWhite, Janson J. ; Mazzeu, Juliana F. ; Coban-Akdemir, Zeynep ; Bayram, Yavuz ; Bahrambeigi, Vahid ; Hoischen, Alexander ; van Bon, Bregje W.M. ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Ramond, Francis ; Touraine, Renaud ; Thevenon, Julien ; Shinawi, Marwan ; Beaver, Erin ; Heeley, Jennifer ; Hoover-Fong, Julie ; Durmaz, Ceren D. ; Karabulut, Halil Gurhan ; Marzioglu-Ozdemir, Ebru ; Cayir, Atilla ; Duz, Mehmet B. ; Seven, Mehmet ; Price, Susan ; Ferreira, Barbara Merfort ; Vianna-Morgante, Angela M. ; Ellard, Sian ; Parrish, Andrew ; Stals, Karen ; Flores-Daboub, Josue ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Brunner, Han G. ; Sutton, V. Reid ; Lupski, James R. ; Carvalho, Claudia M.B.American journal of human genetics, 2018-01, Vol.102 (1), p.27-43 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
10 |
Material Type: Artigo
|
A Recurrent PDGFRB Mutation Causes Familial Infantile MyofibromatosisCheung, Yee Him ; Gayden, Tenzin ; Campeau, Philippe M. ; LeDuc, Charles A. ; Russo, Donna ; Nguyen, Van-Hung ; Guo, Jiancheng ; Qi, Ming ; Guan, Yanfang ; Albrecht, Steffen ; Moroz, Brenda ; Eldin, Karen W. ; Lu, James T. ; Schwartzentruber, Jeremy ; Malkin, David ; Berghuis, Albert M. ; Emil, Sherif ; Gibbs, Richard A. ; Burk, David L. ; Vanstone, Megan ; Lee, Brendan H. ; Orchard, David ; Boycott, Kym M. ; Chung, Wendy K. ; Jabado, NadaAmerican journal of human genetics, 2013-06, Vol.92 (6), p.996-1000 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |