Centering Equity in Human Genetics and Genomics Advances by Jennifer K. Wagner, Joon-Ho Yu, Jessica X. Chong, Charmaine D. Royal, Michael J. Bamshad

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Guidelines for genetic ancestry inference created through roundtable discussions by Jennifer K. Wagner, Joon-Ho Yu, Duana Fullwiley, CeCe Moore, James F. Wilson, Michael J. Bamshad, Charmaine D. Royal

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Human <i>SMAD4</i> Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease by Shreyas A. Bhave, Dongchuan Guo, Stoyan N. Angelov, Michael J. Bamshad, Deborah A. Nickerson, Dianna M. Milewicz, Mary C. Wallingford

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Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares by Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach

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Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares by Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach

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Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment by Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

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PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation by Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger

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Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease by Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash

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Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. by Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

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Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. by Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

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Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta by Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens, Paul Coucke, Peter Witters, Elena Levtchenko, Hamideh Bagherian, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Peter H. Byers

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects by Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

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<i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families by Diana M. Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M. Nouel-Saied, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Heather C. Mefford, Isabelle Schrauwen, Jaime Carrizosa-Moog, William Cornejo-Ochoa, Nicolas Pineda-Trujillo, Suzanne M. Leal

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Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. by Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, Xuanlin Hou, Kati J Buckingham, Kathryn Shively, Guy deBruyn, Nelly R Mugo, James I Mullins, M Juliana McElrath, Jared M Baeten, Connie Celum, Mary J Emond, Jairam R Lingappa, Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams

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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder by Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Jorge L. Granadillo, Amanda V. Tyndall, Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore, Marsha Wheeler, Jessica X. Chong, Michael J. Bamshad, A. Micheil Innes, Tyler Mark Pierson, Joel P. Mackay, Stephanie L. Bielas, Donna M. Martin

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Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. by Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, Xuanlin Hou, Kati J Buckingham, Kathryn Shively, Guy deBruyn, Nelly R Mugo, James I Mullins, M Juliana McElrath, Jared M Baeten, Connie Celum, Mary J Emond, Jairam R Lingappa, Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams

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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk by Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes by Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty

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Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome by Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad

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