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Shweta U. Dhar

ORCID: 0000-0003-0416-083X
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A5078344971
Research Areas
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • BRCA gene mutations in cancer
  • Genomic variations and chromosomal abnormalities
  • Autism Spectrum Disorder Research
  • RNA regulation and disease
  • Family and Disability Support Research
  • Metabolism and Genetic Disorders
  • Congenital heart defects research
  • Genetic factors in colorectal cancer
  • Ethics in Clinical Research
  • Biomedical and Engineering Education
  • Prenatal Screening and Diagnostics
  • Nutrition, Genetics, and Disease
  • RNA Research and Splicing
  • Mitochondrial Function and Pathology
  • Cancer Genomics and Diagnostics
  • CRISPR and Genetic Engineering
  • Epigenetics and DNA Methylation
  • Cancer-related gene regulation
  • Connective tissue disorders research
  • RNA and protein synthesis mechanisms
  • Genetics, Bioinformatics, and Biomedical Research
  • Chromosomal and Genetic Variations
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Baylor College of Medicine
 2014-2024

Michael E. DeBakey VA Medical Center
 2018-2024

University of Manchester
 2023

Genomics (United Kingdom)
 2023

St Mary's Hospital
 2023

Manchester University NHS Foundation Trust
 2023

Harvard University
 2023

Boston Children's Hospital
 2023

South Bend Museum of Art
 2020-2021

The University of Texas MD Anderson Cancer Center
 2018

 Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
OPENALEX - Publications 
Pengfei Liu Ayelet Erez Sandesh C. Sreenath Nagamani Shweta U. Dhar Katarzyna Kołodziejska and 26 more Avinash V. Dharmadhikari M. Lance Cooper Joanna Wiszniewska Feng Zhang Marjorie Withers Carlos A. Bacino Luis Daniel Campos-Acevedo Mauricio R. Delgado Debra Freedenberg Adolfo D. Garnica Theresa A. Grebe Dolores Hernández-Almaguer LaDonna Immken Seema R. Lalani Scott D. McLean Hope Northrup Fernando Scaglia Lane Strathearn Pamela Trapane Sung-Hae L. Kang Ankita Patel Sau Wai Cheung P. J. Hastings Paweł Stankiewicz James R. Lupski Weimin Bi

10.1016/j.cell.2011.07.042 article EN publisher-specific-oa Cell 2011-09-01
 Molecular diagnostic experience of whole-exome sequencing in adult patients
OPENALEX - Publications 
Jennifer E. Posey Jill A. Rosenfeld Regis A. James Matthew N. Bainbridge Zhiyv Niu and 18 more Xia Wang Shweta U. Dhar Wojciech Wiszniewski Zeynep H. Coban Akdemir Tomasz Gambin Fan Xia Richard Person Magdalena Walkiewicz Chad A. Shaw V. Reid Sutton Arthur L. Beaudet Donna M. Muzny Christine M. Eng Yaping Yang Richard A. Gibbs James R. Lupski Eric Boerwinkle Sharon E. Plon

10.1038/gim.2015.142 article EN publisher-specific-oa Genetics in Medicine 2015-12-03
 MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
OPENALEX - Publications 
Julia Wang Rami Al‐Ouran Yanhui Hu Seon‐Young Kim Ying‐Wooi Wan and 95 more Michael F. Wangler Shinya Yamamoto Hsiao‐Tuan Chao Aram Comjean Stephanie E. Mohr Norbert Perrimon Zhandong Liu Hugo J. Bellen David R. Adams David R. Adams Mercedes E. Alejandro Patrick Allard Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Alan H. Beggs Hugo J. Bellen Jonathan A. Bernstein Anna Bican David Bick Camille L. Birch Braden Boone Lauren C. Briere Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Katherine R. Chao Gary Clark Joy D. Cogan Cynthia M. Cooper William J. Craigen Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Daniel C. Dorset David D. Draper Annika M. Dries David J. Eckstein Lisa Emrick Christine M. Eng Cecilia Esteves Tyra Estwick Paul G. Fisher Trevor S. Frisby Kate Frost William A. Gahl Valerie Gartner Rena A. Godfrey Mitchell Goheen Gretchen Golas David Goldstein Mary “Gracie” G. Gordon Sarah E. Gould Jean-Philippe F. Gourdine Brett H. Graham Catherine Groden Andrea Gropman Mary E. Hackbarth Melissa Haendel Rizwan Hamid Neil A. Hanchard Lori H. Handley Isabel Hardee Matthew Herzog Ingrid A. Holm Ellen M. Howerton Howard J. Jacob Mahim Jain Yong‐hui Jiang Jean M. Johnston Angela Jones Alanna E. Koehler David M. Koeller Isaac S. Kohane Jennefer N. Kohler Donna M. Krasnewich Elizabeth L. Krieg Joel B. Krier Jennifer Kyle Seema R. Lalani Lea Latham Yvonne L. Latour C. Christopher Lau Jozef Lazar Brendan Lee Hane Lee Paul R. Lee Shawn Levy

10.1016/j.ajhg.2017.04.010 article EN publisher-specific-oa The American Journal of Human Genetics 2017-05-11
 The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
OPENALEX - Publications 
Rachel Ramoni John J. Mulvihill David R. Adams Patrick Allard Euan A. Ashley and 95 more Jonathan A. Bernstein William A. Gahl Rizwan Hamid Joseph Loscalzo Alexa T. McCray Vandana Shashi Cynthia J. Tifft Anastasia L. Wise David R. Adams David R. Adams Mercedes E. Alejandro Patrick Allard Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Alan H. Beggs Hugo J. Bellen David L. Bernick Jonathan A. Bernstein Anna Bican David Bick Camille L. Birch Braden Boone Lauren C. Briere Donna M. Brown Catherine A. Brownstein Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Katherine R. Chao Gary Clark Joy D. Cogan Cynthia M. Cooper William J. Craigen Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Daniel C. Dorset David D. Draper Annika M. Dries Rachel L. Eastwood David J. Eckstein Lisa Emrick Christine M. Eng Cecilia Esteves Tyra Estwick Paul G. Fisher Trevor S. Frisby Kate Frost William A. Gahl Valerie Gartner Rena A. Godfrey Mitchell Goheen Gretchen Golas David B. Goldstein Mary “Gracie” G. Gordon Sarah E. Gould Jean-Philippe F. Gourdine Brett H. Graham Catherine Groden Andrea Gropman Mary E. Hackbarth Melissa Haendel Rizwan Hamid Neil A. Hanchard Lori H. Handley Isabel Hardee Matthew Herzog Ingrid A. Holm Ellen M. Howerton Brenda Iglesias Howard J. Jacob Mahim Jain Yong‐hui Jiang Jean M. Johnston Angela Jones Alanna E. Koehler David M. Koeller Isaac S. Kohane Jennefer N. Kohler Donna M. Krasnewich Elizabeth L. Krieg Joel B. Krier Jennifer Kyle Seema R. Lalani Lea Latham Yvonne L. Latour C. Christopher Lau Jozef Lazar

10.1016/j.ajhg.2017.01.006 article EN publisher-specific-oa The American Journal of Human Genetics 2017-02-01
 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
OPENALEX - Publications 
Shweta U. Dhar Daniela del Gaudio Jennifer R. German Sarika U. Peters Zhishu Ou and 16 more Patricia I. Bader Jonathan S. Berg Maria Blazo Chester Brown Brett H. Graham Theresa A. Grebe Seema R. Lalani Mira Irons Steven Sparagana Melissa Williams John A. Phillips Arthur L. Beaudet Paweł Stankiewicz Ankita Patel Sau Wai Cheung Trilochan Sahoo

Abstract The 22q13.3 deletion syndrome results from loss of terminal segments varying sizes at 22qter. Few genotype–phenotype correlations have been found but all patients mental retardation and severe delay, or absence of, expressive speech. We carried out clinical molecular characterization 13 patients. Developmental delay speech abnormalities were common to comparable in frequency severity previously reported cases. Array‐based comparative genomic hybridization showed the deletions vary...

10.1002/ajmg.a.33253 article EN American Journal of Medical Genetics Part A 2010-02-22
 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
OPENALEX - Publications 
Anu Bashamboo Patricia A. Donohoue Éric Vilain Sandra Rojo Pierre Calvel and 21 more Sumudu Nimali Seneviratne Federica Buonocore Hayk Barseghyan Nathan C. Bingham Jill A. Rosenfeld Surya N. Mulukutla Mahim Jain Lindsay C. Burrage Shweta U. Dhar Ashok Balasubramanyam Brendan Lee Marie-Charlotte Dumargne Caroline Eozénou Jenifer P. Suntharalingham KSH De Silva Lin Lin Joëlle Bignon-Topalovic Françis Poulat Carlos F. Lagos Ken McElreavey John C. Achermann

Cell lineages of the early human gonad commit to one two mutually antagonistic organogenetic fates, testis or ovary. Some individuals with a 46,XX karyotype develop testes ovotestes (testicular ovotesticular disorder sex development; TDSD/OTDSD), due presence testis-determining gene, SRY Other rare complex syndromic forms TDSD/OTDSD are associated mutations in pro-ovarian genes that repress development (e.g. WNT4); however, genetic cause more common non-syndromic is unknown. Steroidogenic...

10.1093/hmg/ddw186 article EN cc-by Human Molecular Genetics 2016-07-04
 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
OPENALEX - Publications 
Hsiao‐Tuan Chao Mariska Davids Elizabeth A. Burke John Pappas Jill A. Rosenfeld and 95 more Alexandra J. McCarty Taylor Davis Lynne A. Wolfe Camilo Toro Cynthia J. Tifft Fan Xia Nicholas Stong Travis K. Johnson Coral G. Warr Shinya Yamamoto David R. Adams Thomas C. Markello William A. Gahl Hugo J. Bellen Michael F. Wangler May Christine V. Malicdan David R. Adams David R. Adams Mercedes E. Alejandro Patrick Allard Euan A. Ashley Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Alan H. Beggs Hugo J. Bellen Jonathan A. Bernstein David Bick Camille L. Birch Braden Boone Lauren C. Briere Donna M. Brown Matthew Brush Lindsay C. Burrage Katherine R. Chao Gary Clark Joy D. Cogan Cynthia M. Cooper William J. Craigen Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Dan C. Dorset David D. Draper Annika M. Dries David J. Eckstein Lisa Emrick Christine M. Eng Cecilia Esteves Tyra Estwick Paul G. Fisher Trevor S. Frisby Kate Frost William A. Gahl Valerie Gartner Rena A. Godfrey Mitchell Goheen Gretchen Golas David B. Goldstein Mary “Gracie” G. Gordon Sarah E. Gould Jean-Philippe F. Gourdine Brett H. Graham Catherine Groden Andrea Gropman Mary E. Hackbarth Melissa Haendel Rizwan Hamid Neil A. Hanchard Lori H. Handley Isabel Hardee Matthew Herzog Ingrid A. Holm Ellen M. Howerton Howard J. Jacob Mahim Jain Yong‐hui Jiang Jean M. Johnston Angela Jones Alanna E. Koehler David M. Koeller Isaac S. Kohane Jennefer N. Kohler Donna M. Krasnewich Elizabeth L. Krieg Joel B. Krier Jennifer Kyle Seema R. Lalani Lea Latham Yvonne L. Latour C. Christopher Lau

10.1016/j.ajhg.2016.11.018 article EN publisher-specific-oa The American Journal of Human Genetics 2016-12-23
 IRF2BPL Is Associated with Neurological Phenotypes
OPENALEX - Publications 
Paul C. Marcogliese Vandana Shashi Rebecca C. Spillmann Nicholas Stong Jill A. Rosenfeld and 95 more Mary Kay Koenig Julián A. Martínez-Agosto Matthew Herzog Agnes H. Chen Patricia Dickson Henry J. Lin Moin Vera Noriko Salamon John M. Graham Damara Ortiz Elena Infante Wouter Steyaert Bart Dermaut Bruce Poppe Hyunglok Chung Zhongyuan Zuo Pei-Tseng Lee Oguz Kanca Fan Xia Yaping Yang Edward C. Smith Joan Jasien Sujay Kansagra Gail A. Spiridigliozzi Mays El-Dairi Robert K. Lark Kacie Riley Dwight D. Koeberl Katie Golden‐Grant Shinya Yamamoto Michael F. Wangler Ghayda Mirzaa Dimitri Hemelsoet Brendan Lee Stanley F. Nelson David B. Goldstein Hugo J. Bellen Loren D.M. Peña Steven Callens Paul Coucke Bart Dermaut Dimitri Hemelsoet Bruce Poppe Wouter Steyaert Wim Terryn Rudy Van Coster David R. Adams Mercedes E. Alejandro Patrick Allard Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Gabriel F. Batzli Alan H. Beggs Babak Behnam Anna Bican David Bick Camille L. Birch Devon Bonner Braden Boone Bret L. Bostwick Lauren C. Briere Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Shan Chen Gary Clark Terra R. Coakley Joy D. Cogan Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Ani Dillon Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Daniel C. Dorset Emilie D. Douine David D. Draper David J. Eckstein Lisa Emrick Christine M. Eng Ascia Eskin Cecilia Esteves Tyra Estwick Carlos R. Ferreira Brent L. Fogel Noah D. Friedman

10.1016/j.ajhg.2018.07.006 article EN publisher-specific-oa The American Journal of Human Genetics 2018-07-26
 Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
OPENALEX - Publications 
Elena‐Raluca Nicoli Mary Weston Mary E. Hackbarth Alissa J. Becerril Austin Larson and 95 more Wadih M. Zein Peter R. Baker John D. Burke Heidi Dorward Mariska Davids Yan Huang David R. Adams Patricia M. Zerfas Dong Chen Thomas C. Markello Camilo Toro Tim Wood Gene Elliott Mylinh Vu Wei Zheng Lisa Garrett Cynthia J. Tifft William A. Gahl Debra Day‐Salvatore Joseph A. Mindell May Christine V. Malicdan Maria T. Acosta David R. Adams Pankaj B. Agrawal Mercedes E. Alejandro Patrick Allard Justin Alvey Ashley Andrews Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Güney Bademci Eva H. Baker Ashok Balasubramanyam Dustin Baldridge Jim Bale Deborah Barbouth Gabriel F. Batzli Pinar Bayrak‐Toydemir Alan H. Beggs Gill Bejerano Hugo J. Bellen Jonathan A. Bernstein Gerard T. Berry Anna Bican David Bick Camille L. Birch Stephanie Bivona John Bohnsack Carsten Bonnenmann Devon Bonner Braden Boone Bret L. Bostwick Lorenzo D. Botto Lauren C. Briere Elly Brokamp Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Manish J. Butte John C. Carey Olveen Carrasquillo Ta Chen Chang Hsiao‐Tuan Chao Gary Clark Terra R. Coakley Laurel A. Cobban Joy D. Cogan F. Sessions Cole Heather A. Colley Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Surendra Dasari Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Naghmeh Dorrani Daniel C. Dorset Emilie D. Douine David D. Draper Laura Duncan David J. Eckstein Lisa Emrick Christine M. Eng Cecilia Esteves Tyra Estwick Liliana Fernández Carlos R. Ferreira Elizabeth L. Fieg Paul G. Fisher Brent L. Fogel

10.1016/j.ajhg.2019.04.008 article EN publisher-specific-oa The American Journal of Human Genetics 2019-05-30
 Genetic testing and cancer risk management recommendations by physicians for at-risk relatives
OPENALEX - Publications 
Sharon E. Plon H. Paul Cooper Bethany Parks Shweta U. Dhar P. Adam Kelly and 4 more Armin D. Weinberg Stephanie Staggs Tao Wang Susan G. Hilsenbeck

10.1097/gim.0b013e318207f564 article EN publisher-specific-oa Genetics in Medicine 2011-01-13
 De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
OPENALEX - Publications 
Vandana Shashi Loren D.M. Peña Katherine Kim Barbara K. Burton Maja Hempel and 95 more Kelly Schoch Magdalena Walkiewicz Heather M. McLaughlin Megan Cho Nicholas Stong Scott E. Hickey Christine Shuss Michael Freemark Jane S. Bellet Martha Ann Keels Melanie J. Bonner Maysantoine A. El-Dairi Megan W. Butler Peter G. Kranz Constance T. R. M. Stumpel Sylvia Klinkenberg Karin Oberndorff Malik Alawi René Santer Slavé Petrovski Outi Kuismin Satu Korpi-Heikkilä Olli Pietiläinen Aarno Palotie Mitja Kurki Alexander Hoischen Anna C. Need David B. Goldstein Fanny Kortüm A. Bacino Brendan Lee Ashok Balasubramanyam Lindsay C. Burrage Gary Clark William J. Craigen Shweta U. Dhar Lisa Emrick Brett H. Graham Mahim Jain Seema R. Lalani Richard A. Lewis Paolo Moretti Sarah K. Nicholas Jordan S. Orange Jennifer E. Posey Lorraine Potocki Jill A. Rosenfeld Daryl A. Scott Neil A. Hanchard Tran A. Alyssa Alejandro E. Mercedes Azamian S. Mashid Hugo J. Bellen Shinya Yamamoto Michael F. Wangler Monte Westerfield John H. Postlethwait Christine M. Eng Yaping Yang Donna M. Muzny Patricia A. Ward Rachel Ramoni Alexa T. McCray Issac S. Kohane Ingrid A. Holm Matthew Might Paul Mazur Kimberly Splinter Cecilia Esteves Vandana Shashi Yong‐hui Jiang Loren D.M. Peña Allyn McConkie‐Rosell Kelly Schoch Rebecca C. Spillmann Jennifer A. Sullivan Sophie Nicole David B. Goldstein Nicholas Stong Alan H. Beggs Joseph Loscalzo Calum A. MacRae Edwin K. Silverman Joan M. Stoler David A. Sweetser Richard L. Maas Joel B. Krier Lance H. Rodan Chris A. Walsh Cynthia M. Cooper J. Carl Pallais Laurel A. Donnell‐Fink Elizabeth L. Krieg Sharyn A. Lincoln Lauren C. Briere

10.1016/j.ajhg.2016.08.017 article EN publisher-specific-oa The American Journal of Human Genetics 2016-10-01
 Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders
OPENALEX - Publications 
Lei‐Shih Chen Lei Xu Tse‐Yang Huang Shweta U. Dhar

10.1038/gim.2012.145 article EN publisher-specific-oa Genetics in Medicine 2013-01-03
 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
OPENALEX - Publications 
Monika Oláhová Wan Hee Yoon Kyle Thompson Sharayu Jangam Liliana Fernández and 95 more Jean M. Davidson Jennifer Kyle Megan E. Grove Dianna G. Fisk Jennefer N. Kohler Matthew Holmes Annika M. Dries Yong Huang Chunli Zhao Kévin Contrepois Zachary Zappala Laure Frésard Daryl Waggott Erika Zink Young‐Mo Kim Heino Heyman Kelly G. Stratton Bobbie‐Jo Webb‐Robertson M Snyder Jason D. Merker Stephen B. Montgomery Paul G. Fisher René G. Feichtinger Johannes A. Mayr Julie Hall Inês A. Barbosa Michael A. Simpson Charu Deshpande Katrina M. Waters David M. Koeller Thomas Metz Andrew A. M. Morris Susan Schelley Tina M. Cowan Marisa W. Friederich Robert McFarland Johan L.K. Van Hove Gregory M. Enns Shinya Yamamoto Euan A. Ashley Michael F. Wangler Robert W. Taylor Hugo J. Bellen Jonathan A. Bernstein Matthew T. Wheeler David R. Adams Mercedes E. Alejandro Patrick Allard Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Gabriel F. Batzli Alan H. Beggs Babak Behnam Anna Bican David Bick Camille L. Birch Devon Bonner Braden Boone Bret L. Bostwick Lauren C. Briere Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Shan Chen Gary Clark Terra R. Coakley Joy D. Cogan Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Ani Dillon Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Daniel C. Dorset Emilie D. Douine David D. Draper David J. Eckstein Lisa Emrick Christine M. Eng Ascia Eskin Cecilia Esteves Tyra Estwick Carlos R. Ferreira Brent L. Fogel Noah D. Friedman William A. Gahl

ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a of synthase and plays an important role in coupling proton translocation production. Here, we describe two individuals, each with homozygous missense variants ATP5F1D, who presented episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, hyperammonemia. Subject 1, for c.245C>T (p.Pro82Leu), recurrent decompensation starting the neonatal period, subject 2, c.317T>G (p.Val106Gly),...

10.1016/j.ajhg.2018.01.020 article EN cc-by The American Journal of Human Genetics 2018-02-23
 Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
OPENALEX - Publications 
Keren Machol Justine Rousseau Sophie Ehresmann Thomas X. Garcia Thi Tuyet Mai Nguyen and 95 more Rebecca C. Spillmann Jennifer A. Sullivan Vandana Shashi Yong‐hui Jiang Nicholas Stong Elise Fiala Marcia Willing Rolph Pfundt Tjitske Kleefstra Megan T. Cho Heather M. McLaughlin Monica Rosello Piera Carmen Orellana Francisco Martı́nez Alfonso Caro‐Llopis Sandra Monfort Tony Roscioli Cheng Yee Nixon Michael F. Buckley Anne Turner Wendy D. Jones Peter M. van Hasselt Floris C. Hofstede Koen L.I. van Gassen Alice S. Brooks Marjon A. van Slegtenhorst Katherine Lachlan Jessica Sebastian Suneeta Madan‐Khetarpal Sonal Desai Sakkubai Naidu Julien Thévenon Laurence Faivre Alice Maurel Slavé Petrovski Ian D. Krantz Jennifer Tarpinian Jill A. Rosenfeld Brendan Lee Philippe M. Campeau David R. Adams Mercedes E. Alejandro Patrick Allard Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Gabriel F. Batzli Alan H. Beggs Babak Behnam Anna Bican David Bick Camille L. Birch Devon Bonner Braden Boone Bret L. Bostwick Lauren C. Briere Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Shan Chen Gary Clark Terra R. Coakley Joy D. Cogan Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Ani Dillon Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Daniel C. Dorset Emilie D. Douine David D. Draper David J. Eckstein Lisa Emrick Christine M. Eng Ascia Eskin Cecilia Esteves Tyra Estwick Carlos R. Ferreira Brent L. Fogel Noah D. Friedman William A. Gahl Emily Glanton Rena A. Godfrey David B. Goldstein Sarah E. Gould Jean-Philippe F. Gourdine

SMARCC2 (BAF170) is one of the invariable core subunits ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis corticogenesis. Pathogenic variants genes encoding other components have been associated with intellectual disability syndromes. Despite its significant biological role, not directly human disease previously. Using whole-exome sequencing web-based gene-matching program, we identified 15 individuals variable degrees...

10.1016/j.ajhg.2018.11.007 article EN publisher-specific-oa The American Journal of Human Genetics 2018-12-20
 A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
OPENALEX - Publications 
Vandana Shashi Kelly Schoch Rebecca C. Spillmann Heidi Cope Queenie K.‐G. Tan and 95 more Sophie Nicole Loren D.M. Peña Allyn McConkie‐Rosell Yong‐hui Jiang Nicholas Stong Anna C. Need David B. Goldstein David R. Adams Mercedes E. Alejandro Patrick Allard Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Hayk Barseghyan Gabriel F. Batzli Alan H. Beggs Babak Behnam Hugo J. Bellen Jonathan A. Bernstein Anna Bican David Bick Camille L. Birch Devon Bonner Braden E. Boone Bret L. Bostwick Lauren C. Briere Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Manish J. Butte Shan Chen Gary Clark Terra R. Coakley Joy D. Cogan Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Mariska Davids Jean M. Davidson Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Katrina M. Dipple Laurel A. Donnell‐Fink Naghmeh Dorrani Daniel C. Dorset Emilie D. Douine David D. Draper Annika M. Dries David J. Eckstein Lisa Emrick Christine M. Eng Gregory M. Enns Ascia Eskin Cecilia Esteves Tyra Estwick Liliana Fernández Carlos Gil Ferreira Paul G. Fisher Brent L. Fogel Noah D. Friedman William A. Gahl Emily Glanton Rena A. Godfrey David B. Goldstein Sarah E. Gould Jean-Philippe F. Gourdine Catherine Groden Andrea Gropman Melissa Haendel Rizwan Hamid Neil A. Hanchard Lori H. Handley Matthew Herzog Ingrid A. Holm Jason Hom Ellen M. Howerton Yong Huang Howard J. Jacob Mahim Jain Yong‐hui Jiang Jean M. Johnston Angela Jones David M. Koeller Isaac S. Kohane Jennefer N. Kohler Donna M. Krasnewich Elizabeth L. Krieg Joel B. Krier Jennifer Kyle Seema R. Lalani C. Christopher Lau

10.1038/s41436-018-0044-2 article EN publisher-specific-oa Genetics in Medicine 2018-06-15
 De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
OPENALEX - Publications 
Dongxue Mao Chloe M. Reuter Maura Ruzhnikov Anita Beck Emily Farrow and 95 more Lisa Emrick Jill A. Rosenfeld Katherine M. Mackenzie Laurie Robak Matthew T. Wheeler Lindsay C. Burrage Mahim Jain Pengfei Liu Daniel G. Calame Sébastien Küry Martin Sillesen Klaus Schmitz‐Abe Davide Tonduti Luigina Spaccini Maria Iascone Casie A. Genetti Mary Kay Koenig Madeline Graf Alyssa A. Tran Mercedes E. Alejandro Brendan Lee Isabelle Thiffault Pankaj B. Agrawal Jonathan A. Bernstein Hugo J. Bellen Hsiao‐Tuan Chao Maria T. Acosta Margaret P Adam David R. Adams Pankaj B. Agrawal Mercedes E. Alejandro Patrick Allard Justin Alvey Laura M. Amendola Ashley Andrews Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Güney Bademci Eva H. Baker Ashok Balasubramanyam Dustin Baldridge Jim Bale Michael Bamshad Deborah Barbouth Gabriel F. Batzli Pınar Bayrak‐Toydemir Anita Beck Alan H. Beggs Gill Bejerano Hugo J. Bellen Jimmy Bennet Beverly Berg-Rood Raphael Bernier Jonathan A. Bernstein Gerard T. Berry Anna Bican Stephanie Bivona Elizabeth Blue John F. Bohnsack Carsten Bonnenmann Devon Bonner Lorenzo D. Botto Lauren C. Briere Elly Brokamp Elizabeth A. Burke Lindsay C. Burrage Manish J. Butte Peter H. Byers John C. Carey Olveen Carrasquillo Ta Chen Chang Sirisak Chanprasert Hsiao‐Tuan Chao Gary Clark Terra R. Coakley Laurel A. Cobban Joy D. Cogan F. Sessions Cole Heather A. Colley Cynthia M. Cooper Heidi Cope William J. Craigen Michael L. Cunningham Precilla D’Souza Hongzheng Dai Surendra Dasari Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Katrina M. Dipple Daniel Doherty Naghmeh Dorrani Emilie D. Douine

10.1016/j.ajhg.2020.02.016 article EN publisher-specific-oa The American Journal of Human Genetics 2020-03-19
 TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
OPENALEX - Publications 
Shyam K. Akula Jack H. Marciano Youngshin Lim David Exposito-Alonso Norma K. Hylton and 95 more Grace H. Hwang Jennifer E. Neil Nicole Dominado Rosie Bunton-Stasyshyn Janet Song Maya Talukdar Aloisia Schmid Lydia Teboul Alisa Mo Taehwan Shin Benjamin Finander Samantha G. Beck Rebecca C. Yeh Aoi Otani Xuyu Qian Ellen M. DeGennaro Fowzan S. Alkuraya Sateesh Maddirevula Gregory D. Cascino Caterina Giannini Lindsay C. Burrage Jill A. Rosenfield Shamika Ketkar Gary Clark Carlos A. Bacino Richard A. Lewis Rosalind A. Segal J. Fernando Bazán K. A. Smith Jeffrey A. Golden Ginam Cho Christopher A. Walsh David R. Adams Aaron W. Aday Mercedes E. Alejandro Patrick Allard Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Eva H. Baker Ashok Balasubramanyam Hayk Barseghyan Gabriel F. Batzli Alan H. Beggs Babak Behnam Hugo J. Bellen Jonathan A. Bernstein Gerard T. Berry Anna Bican David Bick Camille L. Birch Devon Bonner Braden Boone Bret L. Bostwick Lauren C. Briere Elly Brokamp Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Manish J. Butte Shan Chen Gary Clark Terra R. Coakley Laurel A. Cobban Joy D. Cogan Heather A. Colley Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Mariska Davids Jean M. Davidson Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Katrina M. Dipple Naghmeh Dorrani Daniel C. Dorset Jessica Douglas Emilie D. Douine David D. Draper Annika M. Dries David J. Eckstein Lisa Emrick Christine M. Eng Gregory M. Enns Ascia Eskin Cecilia Esteves Tyra Estwick Liliana Fernández Carlos R. Ferreira Elizabeth L. Fieg Paul G. Fisher Brent L. Fogel

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh remain poorly understood. Exome sequencing families with polymicrogyria (disordered cortical folding) revealed individuals biallelic deleterious variants in TMEM161B , which encodes a multi-pass transmembrane protein unknown function. Tmem161b null mice demonstrated holoprosencephaly, craniofacial midline defects, eye and spinal cord patterning changes...

10.1073/pnas.2209964120 article EN cc-by Proceedings of the National Academy of Sciences 2023-01-20
 SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
OPENALEX - Publications 
Siddharth Srivastava Hagar Mor Shaked Kenneth Gable Sita D. Gupta Xueyang Pan and 95 more Niranjanakumari Somashekarappa Gongshe Han Payam Mohassel Marc Gotkine Elizabeth Doney Paula Goldenberg Queenie K.‐G. Tan Yi Gong Benjamin P. Kleinstiver Brian D. Wishart Heidi Cope Cláudia Brito Pires Hannah E. Stutzman Rebecca C. Spillmann Mercedes E. Alejandro Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Lindsay C. Burrage Hsiao‐Tuan Chao Gary Clark William J. Craigen Hongzheng Dai Shweta U. Dhar Lisa Emrick Alica M. Goldman Neil A. Hanchard Fariha Jamal Lefkothea Karaviti Seema R. Lalani Brendan Lee Richard A. Lewis Ronit Marom Paolo Moretti David R. Murdock Sarah K. Nicholas James P. Orengo Jennifer E. Posey Lorraine Potocki Jill A. Rosenfeld Susan L. Samson Daryl A. Scott Alyssa A. Tran Tiphanie P. Vogel Michael F. Wangler Shinya Yamamoto Christine M. Eng Pengfei Liu Patricia A. Ward Edward M. Behrens Matthew A. Deardorff Marni J. Falk Kelly Hassey Kathleen E. Sullivan Adeline Vanderver David B. Goldstein Heidi Cope Allyn McConkie‐Rosell Kelly Schoch Vandana Shashi Edward C. Smith Rebecca C. Spillmann Jennifer A. Sullivan Queenie K-G Tan Sophie Nicole Pankaj B. Agrawal Alan H. Beggs Gerard T. Berry Lauren C. Briere Laurel A. Cobban Matthew Coggins Cynthia M. Cooper Elizabeth L. Fieg Frances A. High Ingrid A. Holm Susan Korrick Joel B. Krier Sharyn A. Lincoln Joseph Loscalzo Richard L. Maas Calum A. MacRae J. Carl Pallais Stephen C. Pak Lance H. Rodan Edwin K. Silverman Joan M. Stoler David A. Sweetser Melissa Walker Chris A. Walsh Cecilia Esteves Emily G. Kelley Isaac S. Kohane Kimberly LeBlanc Alexa T. McCray Anna Nagy

Abstract Sphingolipids are a diverse family of lipids with critical structural and signalling functions in the mammalian nervous system, where they abundant myelin membranes. Serine palmitoyltransferase, enzyme that catalyses rate-limiting reaction sphingolipid synthesis, is composed multiple subunits including an activating subunit, SPTSSA. both essential cytotoxic their synthesis must therefore be tightly regulated. Key to homeostatic regulation ORMDL proteins bound serine...

10.1093/brain/awac460 article EN public-domain Brain 2023-01-30
 Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
OPENALEX - Publications 
Hui Guo Elisa Bettella Paul C. Marcogliese Rongjuan Zhao Jonathan C. Andrews and 61 more Tomasz J. Nowakowski Madelyn A. Gillentine Kendra Hoekzema Tianyun Wang Huidan Wu Sharayu Jangam Cenying Liu Hailun Ni Marjolein H. Willemsen Bregje W.M. van Bon Tuula Rinne Servi J.C. Stevens Tjitske Kleefstra Han G. Brunner Helger G. Yntema Long Min Wenjing Zhao Zhengmao Hu Cindy Colson Nicolas Richard Charles E. Schwartz Corrado Romano Lucia Castiglia M. Bottitta Shweta U. Dhar Deanna Erwin Lisa Emrick Boris Keren Alexandra Afenjar Baosheng Zhu Bing Bai Paweł Stankiewicz Kristin Herman Saadet Mercimek‐Andrews Jane Juusola Amy Wilfert Rami Abou Jamra Benjamin Büttner Heather C. Mefford Alison M. Muir Ingrid E. Scheffer Brigid M. Regan Stephen Malone Jozef Gécz Jan Cobben Marjan M. Weiss Quinten Waisfisz Emilia Bijlsma Mariette J. V. Hoffer Claudia Ruivenkamp Stefano Sartori Fan Xia Jill Rosenfeld Raphael Bernier Michael F. Wangler Shinya Yamamoto Kun Xia Alexander P.A. Stegmann Hugo J. Bellen Alessandra Murgia Evan E. Eichler

Abstract Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical genetic data for 20 patients with likely gene-disrupting mutations TANC2 —whose protein product interacts multiple PSD proteins. Pediatric disruptive autism, intellectual disability, delayed language motor development. In addition to a variable degree epilepsy facial dysmorphism, observe pattern more complex dysfunction...

10.1038/s41467-019-12435-8 article EN cc-by Nature Communications 2019-10-15
 De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
OPENALEX - Publications 
Oguz Kanca Jonathan C. Andrews Pei-Tseng Lee Chirag Patel Stephen R. Braddock and 95 more Anne Slavotinek Julie S. Cohen Cynthia S. Gubbels Kimberly A. Aldinger Judy Williams Maanasa Indaram Ali Fatemi Timothy W. Yu Pankaj B. Agrawal Gilbert Vézina Cas Simons Joanna Crawford C. Christopher Lau Wendy K. Chung Thomas C. Markello William B. Dobyns David R. Adams William A. Gahl Michael F. Wangler Shinya Yamamoto Hugo J. Bellen May Christine V. Malicdan Maria T. Acosta David R. Adams Pankaj B. Agrawal Mercedes E. Alejandro Patrick Allard Justin Alvey Ashley Andrews Euan A. Ashley Mahshid S. Azamian Carlos A. Bacino Güney Bademci Eva H. Baker Ashok Balasubramanyam Dustin Baldridge Jim Bale Deborah Barbouth Gabriel F. Batzli Pınar Bayrak‐Toydemir Alan H. Beggs Gill Bejerano Hugo J. Bellen Jonathan A. Bernstein Gerard T. Berry Anna Bican David Bick Camille L. Birch Stephanie Bivona John Bohnsack Carsten Bonnenmann Devon Bonner Braden Boone Bret L. Bostwick Lorenzo D. Botto Lauren C. Briere Elly Brokamp Donna M. Brown Matthew Brush Elizabeth A. Burke Lindsay C. Burrage Manish J. Butte John C. Carey Olveen Carrasquillo Ta Chen Chang Hsiao‐Tuan Chao Gary Clark Terra R. Coakley Laurel A. Cobban Joy D. Cogan F. Sessions Cole Heather A. Colley Cynthia M. Cooper Heidi Cope William J. Craigen Precilla D’Souza Surendra Dasari Mariska Davids Jyoti G. Dayal Esteban C. Dell’Angelica Shweta U. Dhar Naghmeh Dorrani Daniel C. Dorset Emilie D. Douine David D. Draper Laura Duncan David J. Eckstein Lisa Emrick Christine M. Eng Cecilia Esteves Tyra Estwick Liliana Fernández Carlos R. Ferreira Elizabeth L. Fieg Paul G. Fisher

10.1016/j.ajhg.2019.06.014 article EN publisher-specific-oa The American Journal of Human Genetics 2019-07-18
 Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
OPENALEX - Publications 
Loren D.M. Peña Yong‐Hui Jiang Kelly Schoch Rebecca C. Spillmann Sophie Nicole and 95 more Nicholas Stong Sarah R. Horn Jennifer A. Sullivan Allyn McConkie‐Rosell Sujay Kansagra Edward C. Smith Mays El-Dairi Jane S. Bellet Martha Ann Keels Joan Jasien Peter G. Kranz Richard J. Noel Shashi Nagaraj Robert K. Lark Daniel S. Wechsler Daniela del Gaudio Marco L. Leung Laura G. Hendon Collette C. Parker Kelly L. Jones David B. Goldstein Vandana Shashi Mercedes E. Alejandro Carlos A. Bacino Ashok Balasubramanyam Bret L. Bostwick Lindsay C. Burrage Shan Chen Gary Clark William J. Craigen Shweta U. Dhar Lisa Emrick Brett H. Graham Neil A. Hanchard Mahim Jain Seema R. Lalani Brendan Lee Richard A. Lewis Mahshid S. Azamian Paolo Moretti Sarah K. Nicholas Jordan S. Orange Jennifer E. Posey Lorraine Potocki Jill A. Rosenfeld Susan L. Samson Daryl A. Scott Alyssa A. Tran Tiphanie P. Vogel Jing Zhang Hugo J. Bellen Michael F. Wangler Shinya Yamamoto Christine M. Eng Donna M. Muzny Patricia A. Ward Yaping Yang David B. Goldstein Nicholas Stong Yong‐hui Jiang Allyn McConkie‐Rosell Loren D.M. Peña Kelly Schoch Vandana Shashi Rebecca C. Spillmann Jennifer A. Sullivan Sophie Nicole Alan H. Beggs Lauren C. Briere Cynthia M. Cooper Laurel A. Donnell‐Fink Elizabeth L. Krieg Joel B. Krier Sharyn A. Lincoln Joseph Loscalzo Richard L. Maas Calum A. MacRae J. Carl Pallais Lance H. Rodan Edwin K. Silverman Joan M. Stoler David A. Sweetser Chris A. Walsh Cecilia Esteves Ingrid A. Holm Isaac S. Kohane Paul Mazur Alexa T. McCray Matthew Might Rachel Ramoni Kimberly Splinter David Bick Camille L. Birch Braden Boone Donna M. Brown

10.1038/gim.2017.128 article EN publisher-specific-oa Genetics in Medicine 2017-09-14
 Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
OPENALEX - Publications 
Lance H. Rodan Rebecca C. Spillmann Harley T. Kurata Shawn M. Lamothe Jasmine Maghera and 95 more Rami Abou Jamra Anna Alkelai Stylianos E. Antonarakis Isis Atallah Omer Bar‐Yosef Frédéric Bilan Kathrine Bjørgo Xavier Blanc Patrick Van Bogaert Yoav Bolkier Lindsay C. Burrage Björn Christ Jorge L. Granadillo Patricia Dickson Kirsten A. Donald Christèle Dubourg Aviva Eliyahu Lisa Emrick Kendra Engleman Michaela Veronika Gonfiantini Jean‐Marc Good Judith Kalser Chiara Kloeckner Guus Lachmeijer Marina Macchiaiolo Francesco Nicita Sylvie Odent Emily O’Heir Xilma R. Ortiz‐González Marta Pacio‐Míguez María Palomares‐Bralo Loren D.M. Peña Konrad Platzer Mathieu Quinodoz Emmanuelle Ranza Jill A. Rosenfeld Eliane Roulet‐Perez Avni Santani Fernando Santos‐Simarro Ben Pode‐Shakked Cara Skraban Rachel Slaugh Andrea Superti‐Furga Isabelle Thiffault Richard H. van Jaarsveld Marie Vincent Hong‐Gang Wang Pia Zacher Mercedes E. Alejandro Mahshid S. Azamian Carlos A. Bacino Ashok Balasubramanyam Lindsay C. Burrage Hsiao‐Tuan Chao Gary Clark William J. Craigen Hongzheng Dai Shweta U. Dhar Lisa Emrick Alica M. Goldman Neil A. Hanchard Fariha Jamal Lefkothea Karaviti Seema R. Lalani Brendan Lee Richard A. Lewis Ronit Marom Paolo Moretti David R. Murdock Sarah K. Nicholas James P. Orengo Jennifer E. Posey Lorraine Potocki Jill A. Rosenfeld Susan L. Samson Daryl A. Scott Alyssa A. Tran Tiphanie P. Vogel Michael F. Wangler Shinya Yamamoto Christine M. Eng Pengfei Liu Patricia A. Ward Edward M. Behrens Matthew A. Deardorff Marni J. Falk Kelly Hassey Kathleen Sullivan Adeline Vanderver David B. Goldstein Heidi Cope Allyn McConkie‐Rosell Kelly Schoch Vandana Shashi Edward C. Smith

10.1038/s41436-021-01232-8 article EN publisher-specific-oa Genetics in Medicine 2021-06-23
 Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
OPENALEX - Publications 
Shweta U. Dhar Fernando Scaglia F.-Y. Li Laurie D. Smith Bruce A. Barshop and 10 more Christine M. Eng Richard Haas Jill V. Hunter Timothy Lotze Bruno Maranda Mary Willis José E. Abdenur E. Chen Wendy J. O’Brien L-J. C. Wong

10.1016/j.ymgme.2008.10.008 article EN Molecular Genetics and Metabolism 2008-11-22
 Enhancing exposure to genetics and genomics through an innovative medical school curriculum
OPENALEX - Publications 
Shweta U. Dhar Raye Lynn Alford Elizabeth A. Nelson Lorraine Potocki

10.1038/gim.0b013e31822dd7d4 article EN publisher-specific-oa Genetics in Medicine 2012-01-01
 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
OPENALEX - Publications 
Kelly Schoch Linyan Meng Szabolcs Szelinger David Bearden Asbjørg Stray‐Pedersen and 95 more Øyvind L. Busk Nicholas Stong Eriskay Liston Ronald D. Cohn Fernando Scaglia Jill A. Rosenfeld Jennifer Tarpinian Cara Skraban Matthew A. Deardorff Jeremy Friedman Zeynep Coban‐Akdemir Sophie Nicole Mohamad A. Mikati Peter G. Kranz Joan Jasien Allyn McConkie‐Rosell Marie McDonald Stephanie Burns Wechsler Michael Freemark Sujay Kansagra Sharon F. Freedman Deeksha Bali Francisca Millan Sherri J. Bale Stanley F. Nelson Hane Lee Naghmeh Dorrani David B. Goldstein Rui Xiao Yaping Yang Jennifer E. Posey Julián A. Martínez-Agosto James R. Lupski Michael F. Wangler Vandana Shashi Stanley F. Nelson Wayne W. Grody Hane Lee Samuel P. Strom Éric Vilain Joshua L. Deignan Fabiola Quintero‐Rivera Sibel Kantarci Naghmeh Dorrani Sureni V. Mullegama Sung‐Hae Kang Szabolcs Szelinger Mercedes E. Alejandro Carlos A. Bacino Ashok Balasubramanyam Lindsay C. Burrage Gary Clark William J. Craigen Shweta U. Dhar Lisa Emrick Brett H. Graham Neil A. Hanchard Mahim Jain Seema R. Lalani Brendan Lee Richard A. Lewis Azamian S. Mashid Paolo Moretti Sarah K. Nicholas Jordan S. Orange Jennifer E. Posey Lorraine Potocki Jill A. Rosenfeld Daryl A. Scott Alyssa A. Tran Hugo J. Bellen Michael F. Wangler Shinya Yamamoto Christine M. Eng Donna M. Muzny Patricia A. Ward Yaping Yang Andrea Gropman David B. Goldstein Nicholas Stong Yong‐hui Jiang Allyn McConkie‐Rosell Loren D.M. Peña Kelly Schoch Vandana Shashi Rebecca C. Spillmann Jennifer A. Sullivan Sophie Nicole Alan H. Beggs Lauren C. Briere Cynthia M. Cooper Laurel A. Donnell‐Fink Elizabeth L. Krieg Joel B. Krier Sharyn A. Lincoln

10.1016/j.ajhg.2016.12.013 article EN publisher-specific-oa The American Journal of Human Genetics 2017-01-26
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