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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola, Laura M. ; Jarvik, Gail P. ; Leo, Michael C. ; McLaughlin, Heather M. ; Akkari, Yassmine ; Amaral, Michelle D. ; Berg, Jonathan S. ; Biswas, Sawona ; Bowling, Kevin M. ; Conlin, Laura K. ; Cooper, Greg M. ; Dorschner, Michael O. ; Dulik, Matthew C. ; Ghazani, Arezou A. ; Ghosh, Rajarshi ; Green, Robert C. ; Hart, Ragan ; Horton, Carrie ; Johnston, Jennifer J. ; Lebo, Matthew S. ; Milosavljevic, Aleksandar ; Ou, Jeffrey ; Pak, Christine M. ; Patel, Ronak Y. ; Punj, Sumit ; Richards, Carolyn Sue ; Salama, Joseph ; Strande, Natasha T. ; Yang, Yaping ; Plon, Sharon E. ; Biesecker, Leslie G. ; Rehm, Heidi L.

American journal of human genetics, 2016-06, Vol.98 (6), p.1067-1076 [Periódico revisado por pares]

United States: Elsevier Inc

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2
A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol
A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol
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A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol

Kotowski, Ingrid K. ; Pertsemlidis, Alexander ; Luke, Amy ; Cooper, Richard S. ; Vega, Gloria L. ; Cohen, Jonathan C. ; Hobbs, Helen H.

American journal of human genetics, 2006-03, Vol.78 (3), p.410-422 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola, Laura M. ; Jarvik, Gail P. ; Leo, Michael C. ; McLaughlin, Heather M. ; Akkari, Yassmine ; Amaral, Michelle D. ; Berg, Jonathan S. ; Biswas, Sawona ; Bowling, Kevin M. ; Conlin, Laura K. ; Cooper, Greg M. ; Dorschner, Michael O. ; Dulik, Matthew C. ; Ghazani, Arezou A. ; Ghosh, Rajarshi ; Green, Robert C. ; Hart, Ragan ; Horton, Carrie ; Johnston, Jennifer J. ; Lebo, Matthew S. ; Milosavljevic, Aleksandar ; Ou, Jeffrey ; Pak, Christine M. ; Patel, Ronak Y. ; Punj, Sumit ; Richards, Carolyn Sue ; Salama, Joseph ; Strande, Natasha T. ; Yang, Yaping ; Plon, Sharon E. ; Biesecker, Leslie G. ; Rehm, Heidi L.

American journal of human genetics, 2016-07, Vol.99 (1), p.247-247 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms
Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms
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Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms

Vella, Adrian ; Cooper, Jason D. ; Lowe, Christopher E. ; Walker, Neil ; Nutland, Sarah ; Widmer, Barry ; Jones, Richard ; Ring, Susan M. ; McArdle, Wendy ; Pembrey, Marcus E. ; Strachan, David P. ; Dunger, David B. ; Rebecca Twells, C.J. ; Clayton, David G. ; Todd, John A.

American journal of human genetics, 2005-05, Vol.76 (5), p.773-779 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2
Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2
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Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2

Savkur, R.S. ; Philips, A.V. ; Cooper, T.A. ; Dalton, J.C. ; Moseley, M.L. ; Ranum, L.P.W. ; Day, J.W.

American journal of human genetics, 2004-06, Vol.74 (6), p.1309-1313 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Amendola, Laura M. ; Muenzen, Kathleen ; Biesecker, Leslie G. ; Bowling, Kevin M. ; Cooper, Greg M. ; Dorschner, Michael O. ; Driscoll, Catherine ; Foreman, Ann Katherine M. ; Golden-Grant, Katie ; Greally, John M. ; Hindorff, Lucia ; Kanavy, Dona ; Jobanputra, Vaidehi ; Johnston, Jennifer J. ; Kenny, Eimear E. ; McNulty, Shannon ; Murali, Priyanka ; Ou, Jeffrey ; Powell, Bradford C. ; Rehm, Heidi L. ; Rolf, Bradley ; Roman, Tamara S. ; Van Ziffle, Jessica ; Guha, Saurav ; Abhyankar, Avinash ; Crosslin, David ; Venner, Eric ; Yuan, Bo ; Zouk, Hana ; Jarvik, Gail P.

American journal of human genetics, 2020-11, Vol.107 (5), p.932-941 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
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Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Ragge, Nicola K. ; Brown, Alison G. ; Poloschek, Charlotte M. ; Lorenz, Birgit ; Henderson, R. Alex ; Clarke, Michael P. ; Russell-Eggitt, Isabelle ; Fielder, Alistair ; Gerrelli, Dianne ; Martinez-Barbera, Juan Pedro ; Ruddle, Piers ; Hurst, Jane ; Collin, J. Richard O. ; Salt, Alison ; Cooper, Simon T. ; Thompson, Pamela J. ; Sisodiya, Sanjay M. ; Williamson, Kathleen A. ; FitzPatrick, David R. ; Heyningen, Veronica van ; Hanson, Isabel M.

American journal of human genetics, 2005-06, Vol.76 (6), p.1008-1022 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Ramoni, Rachel B. ; Mulvihill, John J. ; Adams, David R. ; Allard, Patrick ; Ashley, Euan A. ; Gahl, William A. ; Loscalzo, Joseph ; Adams, Christopher J. ; Alejandro, Mercedes E. ; Allard, Patrick ; Ashley, Euan A. ; Azamian, Mashid S. ; Balasubramanyam, Ashok ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Briere, Lauren C. ; Brush, Matthew ; Cogan, Joy D. ; Craigen, William J. ; Davids, Mariska ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Eckstein, David J. ; Estwick, Tyra ; Godfrey, Rena A. ; Goheen, Mitchell ; Goldstein, David B. ; Gordon, Mary “Gracie” G. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Hamid, Rizwan ; Handley, Lori H. ; Hardee, Isabel ; Holm, Ingrid A. ; Howerton, Ellen M. ; Jacob, Howard J. ; Jones, Angela L. ; Koehler, Alanna E. ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Kyle, Jennifer E. ; Latham, Lea ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Hane ; Lee, Paul R. ; Levy, Shawn E. ; Levy, Denise J. ; Lewis, Richard A. ; Liebendorder, Adam P. ; Loomis, Carson R. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Manolio, Teri A. ; Markello, Thomas C. ; Mazur, Paul ; McConkie-Rosell, Allyn ; Metz, Thomas O. ; Might, Matthew ; Moretti, Paolo M. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newman, John H. ; Nicholas, Sarah K. ; Palmer, Christina G.S. ; Phillips, John A. ; Postlethwait, John H. ; Rosenfeld, Jill A. ; Schaffer, Katherine E. ; Schroeder, Molly C. ; Scott, Daryl A. ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Stong, Nicholas ; Sullivan, Jennifer A. ; Tolman, Nathanial J. ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Waggott, Daryl M. ; Walsh, Chris A. ; Wangler, Michael F. ; Warburton, Mike ; Ward, Patricia A. ; Waters, Katrina M. ; Wheeler, Matthew T. ; Yu, Guoyun ; Wise, Anastasia L.

American journal of human genetics, 2017-02, Vol.100 (2), p.185-192 [Periódico revisado por pares]

United States: Elsevier Inc

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9
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Wan, Ying-Wooi ; Wangler, Michael F. ; Yamamoto, Shinya ; Chao, Hsiao-Tuan ; Mohr, Stephanie E. ; Adams, Christopher J. ; Allard, Patrick ; Azamian, Mashid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Birch, Camille L. ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Chao, Katherine R. ; Clark, Gary D. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Craigen, William J. ; Dell’Angelica, Esteban C. ; Donnell-Fink, Laurel A. ; Draper, David D. ; Dries, Annika M. ; Emrick, Lisa T. ; Goheen, Mitchell ; Golas, Gretchen A. ; Goldstein, David B. ; Gordon, Mary G. ; Gourdine, Jean-Philippe F. ; Graham, Brett H. ; Groden, Catherine A. ; Hackbarth, Mary E. ; Hamid, Rizwan ; Hardee, Isabel ; Holm, Ingrid A. ; Howerton, Ellen M. ; Jacob, Howard J. ; Johnston, Jean M. ; Koeller, David M. ; Kohler, Jennefer N. ; Krier, Joel B. ; Kyle, Jennifer E. ; Lalani, Seema R. ; Latham, Lea ; Latour, Yvonne L. ; Lee, Paul R. ; Levy, Shawn E. ; Liebendorfer, Adam P. ; Loomis, Carson R. ; Maas, Richard L. ; MacRae, Calum A. ; Manolio, Teri A. ; McConkie-Rosell, Allyn ; McCray, Alexa T. ; Moretti, Paolo M. ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Newberry, J. Scott ; Nicholas, Sarah K. ; Novacic, Donna ; Orange, Jordan S. ; Pena, Loren D.M. ; Posey, Jennifer E. ; Potocki, Lorraine ; Ramoni, Rachel B. ; Robertson, Amy K. ; Rodan, Lance H. ; Schoch, Kelly ; Scott, Daryl A. ; Sharma, Prashant ; Silverman, Edwin K. ; Soldatos, Ariane G. ; Splinter, Kimberly ; Stoler, Joan M. ; Strong, Kimberly A. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Thomas, Sara P. ; Tifft, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Tran, Alyssa A. ; Vilain, Eric ; Wahl, Colleen E. ; Walley, Nicole M. ; Webb-Robertson, Bobbie-Jo M. ; Weech, Alec A. ; Westerfield, Monte ; Wolfe, Lynne A. ; Yamamoto, Shinya ; Yang, Yaping ; Zornio, Patricia A. ; Perrimon, Norbert ; Bellen, Hugo J.

American journal of human genetics, 2017-06, Vol.100 (6), p.843-853 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations
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Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations

Fox, Ervin ; Edwards, Todd L. ; Nalls, Michael A. ; Tayo, Bamidele O. ; Adeyemo, Adebawole ; Young, J. Hunter ; Duan, Qing ; Chen, Fang ; Li, Yun ; Fornage, Myriam ; Keene, Keith L. ; Andrews, Jeanette S. ; Smith, Jennifer A. ; Faul, Jessica D. ; Liu, Yu ; Murray, Sarah S. ; Musani, Solomon K. ; Srinivasan, Sathanur ; Velez Edwards, Digna R. ; Wang, Heming ; Bovet, Pascal ; Bochud, Murielle ; Broeckel, Ulrich ; Burnier, Michel ; Chasman, Daniel I. ; Ehret, Georg ; Chen, Wei-Min ; Chen, Wei ; Dreisbach, Albert W. ; Evans, Michele K. ; Guo, Xiuqing ; Garcia, Melissa E. ; Jensen, Rich ; Lettre, Guillaume ; Lotay, Vaneet ; Martin, Lisa W. ; Moore, Jason H. ; Morrison, Alanna C. ; Mosley, Thomas H. ; Penman, Alan ; Polak, Joseph F. ; Ridker, Paul M. ; Salako, Babatunde ; Singleton, Andrew B. ; Shriner, Daniel ; Taylor, Kent D. ; Wiggins, Kerri ; Williams, Scott M. ; Yanek, Lisa R. ; Zonderman, Alan B. ; Becker, Diane M. ; Berenson, Gerald ; Boerwinkle, Eric ; Bottinger, Erwin ; Nyberg, Fredrik ; Heiss, Gerardo ; Howard, Virginia J. ; Liu, Kiang ; Liu, Yongmei ; Loos, Ruth ; Snyder, Michael ; Go, Min Jin ; Kim, Young Jin ; Lee, Jong-Young ; Jeon, Jae-Pil ; Han, Bok-Ghee ; Cho, Yoon Shin ; Tay, Wan Ting ; Ong, Rick Twee Hee ; Seielstad, Mark ; Aung, Tin ; Wong, Tien Yin ; Tai, E. Shyong ; Chang, Li-ching ; Wu, Jer-Yuarn ; Kelly, Tanika N. ; Hixson, James E. ; Sung, Yun Ju ; Kato, Norihiro ; Takeuchi, Fumihiko ; Sugiyama, Takao ; Zhang, Yi ; Huang, Wei ; Zhou, Xueya ; Jin, Li ; Zhu, Dingliang ; Schork, Nicholas J. ; Weir, David R. ; Harris, Tamara ; Hunt, Steven C. ; Arnett, Donna ; Redline, Susan ; Cooper, Richard S. ; Risch, Neil J. ; Rotter, Jerome I. ; Chakravarti, Aravinda ; Reiner, Alex P. ; Levy, Daniel ; Keating, Brendan J. ; Zhu, Xiaofeng

American journal of human genetics, 2013-09, Vol.93 (3), p.545-554 [Periódico revisado por pares]

United States: Elsevier Inc

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