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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Guo, Dong-chuan ; Gong, Limin ; Regalado, Ellen S. ; Santos-Cortez, Regie L. ; Zhao, Ren ; Cai, Bo ; Veeraraghavan, Sudha ; Prakash, Siddharth K. ; Johnson, Ralph J. ; Muilenburg, Ann ; Willing, Marcia ; Jondeau, Guillaume ; Boileau, Catherine ; Pannu, Hariyadarshi ; Moran, Rocio ; Debacker, Julie ; Bamshad, Michael J. ; Shendure, Jay ; Nickerson, Deborah A. ; Leal, Suzanne M. ; Raman, C.S. ; Swindell, Eric C. ; Milewicz, Dianna M.

American journal of human genetics, 2015-01, Vol.96 (1), p.170-177 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Guo, Dong-chuan ; Regalado, Ellen ; Casteel, Darren E. ; Santos-Cortez, Regie L. ; Gong, Limin ; Kim, Jeong Joo ; Dyack, Sarah ; Horne, S. Gabrielle ; Chang, Guijuan ; Jondeau, Guillaume ; Boileau, Catherine ; Coselli, Joseph S. ; Li, Zhenyu ; Leal, Suzanne M. ; Shendure, Jay ; Rieder, Mark J. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Kim, Choel ; Milewicz, Dianna M.

American journal of human genetics, 2013-08, Vol.93 (2), p.398-404 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Frequency and Complexity of De Novo Structural Mutation in Autism
Frequency and Complexity of De Novo Structural Mutation in Autism
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Frequency and Complexity of De Novo Structural Mutation in Autism

Brandler, William M. ; Antaki, Danny ; Gujral, Madhusudan ; Noor, Amina ; Rosanio, Gabriel ; Chapman, Timothy R. ; Barrera, Daniel J. ; Lin, Guan Ning ; Malhotra, Dheeraj ; Watts, Amanda C. ; Wong, Lawrence C. ; Estabillo, Jasper A. ; Gadomski, Therese E. ; Hong, Oanh ; Fajardo, Karin V. Fuentes ; Bhandari, Abhishek ; Owen, Renius ; Baughn, Michael ; Yuan, Jeffrey ; Solomon, Terry ; Moyzis, Alexandra G. ; Maile, Michelle S. ; Sanders, Stephan J. ; Reiner, Gail E. ; Vaux, Keith K. ; Strom, Charles M. ; Zhang, Kang ; Muotri, Alysson R. ; Akshoomoff, Natacha ; Leal, Suzanne M. ; Pierce, Karen ; Courchesne, Eric ; Iakoucheva, Lilia M. ; Corsello, Christina ; Sebat, Jonathan

American journal of human genetics, 2016-04, Vol.98 (4), p.667-679 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
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Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

Shearer, A. Eliot ; Eppsteiner, Robert W. ; Booth, Kevin T. ; Ephraim, Sean S. ; Gurrola, José ; Simpson, Allen ; Black-Ziegelbein, E. Ann ; Joshi, Swati ; Ravi, Harini ; Giuffre, Angelica C. ; Happe, Scott ; Hildebrand, Michael S. ; Azaiez, Hela ; Bayazit, Yildirim A. ; Erdal, Mehmet Emin ; Lopez-Escamez, Jose A. ; Gazquez, Irene ; Tamayo, Marta L. ; Gelvez, Nancy Y. ; Leal, Greizy Lopez ; Jalas, Chaim ; Ekstein, Josef ; Yang, Tao ; Usami, Shin-ichi ; Kahrizi, Kimia ; Bazazzadegan, Niloofar ; Najmabadi, Hossein ; Scheetz, Todd E. ; Braun, Terry A. ; Casavant, Thomas L. ; LeProust, Emily M. ; Smith, Richard J.H.

American journal of human genetics, 2014-10, Vol.95 (4), p.445-453 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

Schraders, Margit ; Lee, Kwanghyuk ; Oostrik, Jaap ; Huygen, Patrick L.M. ; Ali, Ghazanfar ; Hoefsloot, Lies H. ; Veltman, Joris A. ; Cremers, Frans P.M. ; Basit, Sulman ; Ansar, Muhammad ; Cremers, Cor W.R.J. ; Kunst, Henricus P.M. ; Ahmad, Wasim ; Admiraal, Ronald J.C. ; Leal, Suzanne M. ; Kremer, Hannie

American journal of human genetics, 2010-02, Vol.86 (2), p.138-147 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Chong, Jessica X. ; McMillin, Margaret J. ; Shively, Kathryn M. ; Beck, Anita E. ; Marvin, Colby T. ; Armenteros, Jose R. ; Buckingham, Kati J. ; Nkinsi, Naomi T. ; Boyle, Evan A. ; Berry, Margaret N. ; Bocian, Maureen ; Foulds, Nicola ; Uzielli, Maria Luisa Giovannucci ; Haldeman-Englert, Chad ; Hennekam, Raoul C.M. ; Kaplan, Paige ; Kline, Antonie D. ; Mercer, Catherine L. ; Nowaczyk, Malgorzata J.M. ; Klein Wassink-Ruiter, Jolien S. ; McPherson, Elizabeth W. ; Moreno, Regina A. ; Scheuerle, Angela E. ; Shashi, Vandana ; Stevens, Cathy A. ; Carey, John C. ; Monteil, Arnaud ; Lory, Philippe ; Tabor, Holly K. ; Smith, Joshua D. ; Shendure, Jay ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Shendure, Jay ; Nickerson, Deborah A. ; Abecasis, Gonçalo R. ; Anderson, Peter ; Blue, Elizabeth Marchani ; Annable, Marcus ; Browning, Brian L. ; Buckingham, Kati J. ; Chen, Christina ; Chin, Jennifer ; Chong, Jessica X. ; Cooper, Gregory M. ; Davis, Colleen P. ; Frazar, Christopher ; Harrell, Tanya M. ; He, Zongxiao ; Jain, Preti ; Jarvik, Gail P. ; Jimenez, Guillaume ; Johanson, Eric ; Jun, Goo ; Kircher, Martin ; Kolar, Tom ; Krauter, Stephanie A. ; Krumm, Niklas ; Leal, Suzanne M. ; Luksic, Daniel ; Marvin, Colby T. ; McMillin, Margaret J. ; McGee, Sean ; O’Reilly, Patrick ; Paeper, Bryan ; Patterson, Karynne ; Perez, Marcos ; Phillips, Sam W. ; Pijoan, Jessica ; Poel, Christa ; Reinier, Frederic ; Robertson, Peggy D. ; Santos-Cortez, Regie ; Shaffer, Tristan ; Shephard, Cindy ; Shively, Kathryn M. ; Siegel, Deborah L. ; Smith, Joshua D. ; Staples, Jeffrey C. ; Tabor, Holly K. ; Tackett, Monica ; Underwood, Jason G. ; Wegener, Marc ; Wang, Gao ; Wheeler, Marsha M. ; Yi, Qian ; Bamshad, Michael J.

American journal of human genetics, 2015-03, Vol.96 (3), p.462-473 [Periódico revisado por pares]

United States: Elsevier Inc

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7
FUT2 Variants Confer Susceptibility to Familial Otitis Media
FUT2 Variants Confer Susceptibility to Familial Otitis Media
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FUT2 Variants Confer Susceptibility to Familial Otitis Media

Santos-Cortez, Regie Lyn P. ; Chiong, Charlotte M. ; Frank, Daniel N. ; Ryan, Allen F. ; Giese, Arnaud P.J. ; Bootpetch Roberts, Tori ; Daly, Kathleen A. ; Steritz, Matthew J. ; Szeremeta, Wasyl ; Pedro, Melquiadesa ; Pine, Harold ; Yarza, Talitha Karisse L. ; Scholes, Melissa A. ; Llanes, Erasmo Gonzalo d.V. ; Yousaf, Saira ; Friedman, Norman ; Tantoco, Ma. Leah C. ; Wine, Todd M. ; Labra, Patrick John ; Benoit, Jeanne ; Ruiz, Amanda G. ; de la Cruz, Rhodieleen Anne R. ; Greenlee, Christopher ; Yousaf, Ayesha ; Cardwell, Jonathan ; Nonato, Rachelle Marie A. ; Ray, Dylan ; Ong, Kimberly Mae C. ; So, Edward ; Robertson, Charles E. ; Dinwiddie, Jordyn ; Lagrana-Villagracia, Sheryl Mae ; Gubbels, Samuel P. ; Shaikh, Rehan S. ; Cass, Stephen P. ; Einarsdottir, Elisabet ; Lee, Nanette R. ; Schwartz, David A. ; Gloria-Cruz, Teresa Luisa I. ; Bamshad, Michael J. ; Yang, Ivana V. ; Kere, Juha ; Abes, Generoso T. ; Prager, Jeremy D. ; Riazuddin, Saima ; Chan, Abner L. ; Yoon, Patricia J. ; Nickerson, Deborah A. ; Cutiongco-de la Paz, Eva Maria ; Streubel, Sven-Olrik ; Reyes-Quintos, Maria Rina T. ; Jenkins, Herman A. ; Mattila, Petri ; Chan, Kenny H. ; Mohlke, Karen L. ; Leal, Suzanne M. ; Hafrén, Lena ; Chonmaitree, Tasnee ; Sale, Michele M. ; Ahmed, Zubair M.

American journal of human genetics, 2018-11, Vol.103 (5), p.679-690 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
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Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Borck, Guntram ; Rehman, Atteeq Ur ; Lee, Kwanghyuk ; Pogoda, Hans-Martin ; Kakar, Naseebullah ; von Ameln, Simon ; Grillet, Nicolas ; Hildebrand, Michael S. ; Ahmed, Zubair M. ; Nürnberg, Gudrun ; Ansar, Muhammad ; Basit, Sulman ; Javed, Qamar ; Morell, Robert J. ; Nasreen, Nabilah ; Shearer, A. Eliot ; Ahmad, Adeel ; Kahrizi, Kimia ; Shaikh, Rehan S. ; Ali, Rana A. ; Khan, Shaheen N. ; Goebel, Ingrid ; Meyer, Nicole C. ; Kimberling, William J. ; Webster, Jennifer A. ; Stephan, Dietrich A. ; Schiller, Martin R. ; Bahlo, Melanie ; Najmabadi, Hossein ; Gillespie, Peter G. ; Nürnberg, Peter ; Wollnik, Bernd ; Riazuddin, Saima ; Smith, Richard J.H. ; Ahmad, Wasim ; Müller, Ulrich ; Hammerschmidt, Matthias ; Friedman, Thomas B. ; Riazuddin, Sheikh ; Leal, Suzanne M. ; Ahmad, Jamil ; Kubisch, Christian

American journal of human genetics, 2011-02, Vol.88 (2), p.127-137 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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