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An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome
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An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome

Gillies, Christopher E. ; Putler, Rosemary ; Menon, Rajasree ; Otto, Edgar ; Yasutake, Kalyn ; Nair, Viji ; Hoover, Paul ; Lieb, David ; Li, Shuqiang ; Eddy, Sean ; Fermin, Damian ; McNulty, Michelle T. ; Sedor, John ; Dell, Katherine ; Schachere, Marleen ; Lemley, Kevin ; Whitted, Lauren ; Srivastava, Tarak ; Haney, Connie ; Sethna, Christine ; Grammatikopoulos, Kalliopi ; Appel, Gerald ; Toledo, Michael ; Greenbaum, Laurence ; Wang, Chia-shi ; Lee, Brian ; Adler, Sharon ; Nast, Cynthia ; LaPage, Janine ; Athavale, Ambarish ; Neu, Alicia ; Boynton, Sara ; Fervenza, Fernando ; Hogan, Marie ; Lieske, John C. ; Chernitskiy, Vladimir ; Kaskel, Frederick ; Kumar, Neelja ; Flynn, Patricia ; Kopp, Jeffrey ; Castro-Rubio, Eveleyn ; Blake, Jodi ; Trachtman, Howard ; Zhdanova, Olga ; Modersitzki, Frank ; Vento, Suzanne ; Lafayette, Richard ; Mehta, Kshama ; Gadegbeku, Crystal ; Johnstone, Duncan ; Cattran, Daniel ; Hladunewich, Michelle ; Reich, Heather ; Ling, Paul ; Romano, Martin ; Fornoni, Alessia ; Barisoni, Laura ; Bidot, Carlos ; Kretzler, Matthias ; Gipson, Debbie ; Williams, Amanda ; Pitter, Renee ; Nachman, Patrick ; Grubbs, Sandra ; Froment, Anne ; Holzman, Lawrence ; Meyers, Kevin ; Kallem, Krishna ; Cerecino, Fumei ; Sambandam, Kamal ; Brown, Elizabeth ; Johnson, Natalie ; Jefferson, Ashley ; Hingorani, Sangeeta ; Tuttle, Kathleen ; Curtin, Laura ; Dismuke, S. ; Cooper, Ann ; Freedman, Barry ; Lin, Jen Jar ; Gray, Stefanie ; Barisoni, Larua ; Gillespie, Brenda ; Mariani, Laura ; Sampson, Matthew G. ; Song, Peter ; Troost, Johnathan ; Zee, Jarcy ; Herreshoff, Emily ; Kincaid, Colleen ; Lienczewski, Chrysta ; Mainieri, Tina ; Abbott, Kevin ; Roy, Cindy ; Urv, Tiina ; Brooks, John ; Hacohen, Nir ; Kretzler, Matthias ; Wen, Xiaoquan ; Sampson, Matthew G.

American journal of human genetics, 2018-08, Vol.103 (2), p.232-244 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Goddard, Katrina A.B. ; Bernhardt, Barbara A. ; Biswas, Sawona ; Bowling, Kevin M. ; Caga-anan, Charlisse F. ; Chinnaiyan, Arul M. ; Clayton, Ellen W. ; East, Kelly ; Garraway, Levi A. ; Garrett, Jeremy R. ; Gray, Stacy W. ; Hindorff, Lucia A. ; Lewis, Michelle Huckaby ; Hutter, Carolyn M. ; Janne, Pasi A. ; Knoppers, Bartha M. ; Krantz, Ian D. ; Manolio, Teri A. ; Nickerson, Deborah A. ; Ou, Jeffrey ; Parsons, Donald W. ; Petersen, Gloria M. ; Plon, Sharon E. ; Rehm, Heidi L. ; Robinson, Dan ; Salama, Joseph S. ; Scollon, Sarah ; Shirts, Brian ; Tabor, Holly K. ; Tarczy-Hornoch, Peter ; Appelbaum, Paul S. ; Arora, Shubhangi ; Brothers, Kyle B. ; Brown, Brian L. ; Caga-anan, Charlisse F. ; Calikoglu, Muge G. ; Christensen, Kurt D. ; Cirino, Allison L. ; Conlin, Laura K. ; Crosslin, David R. ; Davis, James V. ; Dorschner, Michael O. ; Dugan, Noreen P. ; Exe, Nicole ; Fishler, Kristen ; Ghrundmeier, Bob ; Gordon, Adam S. ; Gray, David E. ; Gray, Stacy W. ; Gutierrez, Amanda M. ; Hensman, Naomi ; Hiatt, Susan M. ; Himes, Patricia ; Horike-Pyne, Martha J. ; Hull, Sara ; Jensen, Brian C. ; Joffe, Steve ; Kaufman, Dave ; Kim, Jerry H. ; Klein, William ; Lambert, Michele P. ; Leo, Michael C. ; Lewis, Katie ; Lonigro, Bob ; Machini, Kalotina ; Manolio, Teri A. ; McCullough, Laurence ; McMullen, Carmit ; Mooney, Sean D. ; Moore, Elizabeth G. ; Muzny, Donna ; Ng, David ; Nickerson, Deborah A. ; Oliver, Nelly M. ; Parsons, Will ; Plon, Sharon ; Powell, Bradford C. ; Raesz-Martinez, Robin A. ; Raskind, Wendy H. ; Rehm, Heidi L. ; Reiss, Jacob A. ; Robertson, Peggy D. ; Robinson, Dan ; Salama, Joseph ; Scarano, Maria I. ; Sholl, Lynette M. ; Silverman, Elian ; Simmons, Shirley ; Spinner, Nancy B. ; Stoffel, Elena ; Tilley, Christian R. ; Trinidad, Susan ; Ubel, Peter ; Vassy, Jason L. ; Vries, Raymond D. ; Weck, Karen ; Wolf, Susan M. ; Wynn, Julia ; Yu, Joon-Ho ; Zikmund-Fisher, Brian J.

American journal of human genetics, 2016-06, Vol.98 (6), p.1051-1066 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Lesage, Suzanne ; Deramecourt, Vincent ; Jacoupy, Maxime ; Hassoun, Sidi Mohamed ; Pujol, Claire ; Maurage, Claude-Alain ; Sahbatou, Mourad ; Liebau, Stefan ; Bilgic, Basar ; Emre, Murat ; Erginel-Unaltuna, Nihan ; Guven, Gamze ; Tison, François ; Tranchant, Christine ; Corvol, Jean-Christophe ; Krack, Paul ; Hernandez, Dena G. ; Gibbs, J. Raphael ; Hardy, John ; Wood, Nicholas W. ; Durr, Alexandra ; Deleuze, Jean-François ; Tazir, Meriem ; Destée, Alain ; Lohmann, Ebba ; Corti, Olga ; Brice, Alexis ; Lesage, Suzanne ; Tison, François ; Vidailhet, Marie ; Corvol, Jean-Christophe ; Agid, Yves ; Anheim, Mathieu ; Bonnet, Anne-Marie ; Borg, Michel ; Broussolle, Emmanuel ; Durif, Franck ; Krack, Paul ; Klebe, Stephan ; Lohmann, Ebba ; Vérin, Marc ; Viallet, François ; Brice, Alexis ; Majounie, Elisa ; Corvol, Jean Christophe ; Ben-Shlomo, Yoav ; Berg, Daniela ; Bhatia, Kailash ; Bochdanovits, Zoltan ; Bonin, Michael ; Bras, Jose M. ; Brockmann, Kathrin ; Burn, David J. ; Chen, Honglei ; Clarke, Carl E. ; Cookson, Mark R. ; Counsell, Carl ; van Dijk, Karin D. ; Dong, Jing ; Escott-Price, Valentina ; Evans, Jonathan R. ; Gray, Emma ; Guerreiro, Rita ; van Hilten, Jacobus J. ; Hollenbeck, Albert ; Holmans, Peter ; Hu, Michèle ; Hudson, Gavin ; Hunt, Sarah E. ; Kilarski, Laura L. ; Jansen, Iris E. ; Langford, Cordelia ; Lees, Andrew ; Lorenz, Delia ; Lubbe, Steven ; Lungu, Codrin ; Martinez, María ; Mätzler, Walter ; McNeill, Alisdair ; Moorby, Catriona ; O’Sullivan, Sean S. ; Pearson, Justin ; Ravina, Bernard ; Rivadeneira, Fernando ; Ryten, Mina ; Schapira, Anthony ; Sharma, Manu ; Sheerin, Una-Marie ; Sidransky, Ellen ; Spencer, Chris C.A. ; Stefánsson, Kári ; Strange, Amy ; Talbot, Kevin ; Trabzuni, Daniah ; Uitterlinden, André G. ; van de Warrenburg, Bart ; Williams-Gray, Caroline H. ; Winder-Rhodes, Sophie ; Hardy, John ; Wood, Nicholas W.

American journal of human genetics, 2016-03, Vol.98 (3), p.500-513 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Goddard, Katrina A.B. ; Jarvik, Gail P. ; Amendola, Laura M. ; Berg, Jonathan S. ; Blout, Carrie L. ; Brothers, Kyle B. ; Caga-anan, Charlisse F. ; Clayton, Ellen W. ; East, Kelly ; Evans, James P. ; Fullerton, Stephanie M. ; Holm, Ingrid A. ; Kaufman, David ; Knoppers, Bartha M. ; McCullough, Laurence ; McGuire, Amy ; Myers, Richard M. ; Nickerson, Deborah A. ; Robinson, Dan ; Salama, Joseph S. ; Scollon, Sarah ; Shirts, Brian ; Tabor, Holly K. ; Tarczy-Hornoch, Peter ; Veenstra, David L. ; Wagle, Nikhil ; Wynn, Julia ; Amendola, Laura ; Aronson, Samuel J. ; Arora, Shubhangi ; Azzariti, Danielle R. ; Biesecker, Barbara B. ; Byers, Peter H. ; Calikoglu, Muge G. ; Cirino, Allison L. ; Conlin, Laura K. ; Cooper, Greg M. ; Crosslin, David R. ; Davis, James V. ; Dugan, Noreen P. ; Exe, Nicole ; Fan, Zheng ; Filipski, Kelly ; Fishler, Kristen ; Ghrundmeier, Bob ; Gilmore, Marian J. ; Gordon, Adam S. ; Gornick, Michele C. ; Grady, William M. ; Gutierrez, Amanda M. ; Hensman, Naomi ; Himes, Patricia ; Hisama, Fuki M. ; Hull, Sara ; Joffe, Steve ; Karavite, Dean ; Kauffman, Tia L. ; Kaufman, Dave ; Kim, Jerry H. ; Klein, William ; Krantz, Ian ; Le, Lan Q. ; Lebo, Matthew S. ; Leo, Michael C. ; Lewis, Katie ; Lewis, Michelle ; Lindeman, Neal I. ; Lonigro, Bob ; Lose, Edward J. ; Lupo, Philip J. ; Machini, Kalotina ; Marchuk, Daniel S. ; McMullen, Carmit ; Miller, Victoria A. ; Moore, Elizabeth G. ; Ng, David ; Oliver, Nelly M. ; Parsons, Will ; Patrick, Donald L. ; Plon, Sharon ; Powell, Bradford C. ; Breitkopf, Carmen Radecki ; Raskind, Wendy H. ; Rini, Christine ; Robertson, Peggy D. ; Salama, Joseph ; Shirts, Brian H. ; Siddiqui, Javed ; Silverman, Elian ; Simmons, Shirley ; Simons, Janae V. ; Stoffel, Elena ; Tilley, Christian R. ; Tomlinson, Ashley ; Trinidad, Susan ; Ubel, Peter ; Walsh, Rebecca C. ; Wilfond, Ben ; Wilhelmsen, Kirk C. ; Young, Carol

American journal of human genetics, 2016-07, Vol.99 (1), p.246-246 [Periódico revisado por pares]

United States: Elsevier Inc

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5
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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6
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
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Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Zankl, Andreas ; Duncan, Emma L. ; Leo, Paul J. ; Clark, Graeme R. ; Glazov, Evgeny A. ; Addor, Marie-Claude ; Herlin, Troels ; Kim, Chong Ae ; Leheup, Bruno P. ; McGill, Jim ; McTaggart, Steven ; Mittas, Stephan ; Mitchell, Anna L. ; Mortier, Geert R. ; Robertson, Stephen P. ; Schroeder, Marie ; Terhal, Paulien ; Brown, Matthew A.

American journal of human genetics, 2012-03, Vol.90 (3), p.494-501 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Yoon, Wan Hee ; Jangam, Sharayu ; Davidson, Jean M. ; Grove, Megan E. ; Kohler, Jennefer N. ; Holmes, Matthew ; Zhao, Chunli ; Contrepois, Kévin ; Heyman, Heino M. ; Webb-Robertson, Bobbie-Jo M. ; Alejandro, Mercedes E. ; Allard, Patrick ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Bican, Anna ; Birch, Camille L. ; Bostwick, Bret L. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; D’Souza, Precilla ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dorset, Daniel C. ; Draper, David D. ; Eckstein, David J. ; Emrick, Lisa T. ; Esteves, Cecilia ; Estwick, Tyra ; Ferreira, Carlos ; Glanton, Emily ; Godfrey, Rena A. ; Goldstein, David B. ; Gould, Sarah E. ; Gourdine, Jean-Philippe F. ; Hanchard, Neil A. ; Herzog, Matthew R. ; Hom, Jason ; Howerton, Ellen M. ; Huang, Yong ; Jacob, Howard J. ; Jiang, Yong-hui ; Johnston, Jean M. ; Jones, Angela L. ; Kohane, Isaac S. ; Krier, Joel B. ; Lazar, Jozef ; Lee, Hane ; Levy, Shawn E. ; Lincoln, Sharyn A. ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Majcherska, Marta M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Marom, Ronit ; May, Thomas ; McConkie-Rosell, Allyn ; McCray, Alexa T. ; Moretti, Paolo M. ; Novacic, Donna ; Orange, Jordan S. ; Palmer, Christina G.S. ; Potocki, Lorraine ; Pusey, Barbara N. ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Samson, Susan L. ; Schoch, Kelly ; Schroeder, Molly C. ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Spillmann, Rebecca C. ; Stong, Nicholas ; Tifft, Cynthia J. ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Ward, Patricia A. ; Yamamoto, Shinya ; Snyder, Michael ; Merker, Jason D. ; Fisher, Paul G. ; Mayr, Johannes A. ; Morris, Andrew A. ; Schelley, Susan ; Friederich, Marisa W. ; Yamamoto, Shinya ; Wangler, Michael F. ; Taylor, Robert W. ; Bernstein, Jonathan A.

American journal of human genetics, 2018-03, Vol.102 (3), p.494-504 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Fine Mapping and Positional Candidate Studies Identify HLA-G as an Asthma Susceptibility Gene on Chromosome 6p21
Fine Mapping and Positional Candidate Studies Identify HLA-G as an Asthma Susceptibility Gene on Chromosome 6p21
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Fine Mapping and Positional Candidate Studies Identify HLA-G as an Asthma Susceptibility Gene on Chromosome 6p21

Nicolae, Dan ; Cox, Nancy J. ; Lester, Lucille A. ; Schneider, Daniel ; Tan, Zheng ; Billstrand, Christine ; Kuldanek, Susan ; Donfack, Joseph ; Kogut, Paul ; Patel, Nina M. ; Goodenbour, Jeffrey ; Howard, Timothy ; Wolf, Raoul ; Koppelman, Gerard H. ; White, Steven R. ; Parry, Rodney ; Postma, Dirkje S. ; Meyers, Deborah ; Bleecker, Eugene R. ; Hunt, Joan S. ; Solway, Julian ; Ober, Carole

American journal of human genetics, 2005-02, Vol.76 (2), p.349-357 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
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A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

Ng, Michael ; Thakkar, Dipti ; Southam, Lorraine ; Werker, Paul ; Ophoff, Roel ; Becker, Kerstin ; Nothnagel, Michael ; Franke, Andre ; Nürnberg, Peter ; Espirito-Santo, Ana Isabel ; Izadi, David ; Hennies, Hans Christian ; Nanchahal, Jagdeep ; Zeggini, Eleftheria ; Furniss, Dominic

American journal of human genetics, 2017-09, Vol.101 (3), p.417-427 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder
Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder
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Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder

Hu, Xian-Zhang ; Lipsky, Robert H. ; Zhu, Guanshan ; Akhtar, Longina A. ; Taubman, Julie ; Greenberg, Benjamin D. ; Xu, Ke ; Arnold, Paul D. ; Richter, Margaret A. ; Kennedy, James L. ; Murphy, Dennis L. ; Goldman, David

American journal of human genetics, 2006-05, Vol.78 (5), p.815-826 [Periódico revisado por pares]

United States: Elsevier Inc

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