Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Author:

Borja Nicholas1ORCID,Bivona Stephanie1,Peart Lé Shon1,Johnson Brittany1,Gonzalez Joanna1,Barbouth Deborah1,Moore Henry2,Guo Shengru3,Bademci Guney1,Tekin Mustafa13,Acosta Maria T.,Adam Margaret,Adams David R.,Agrawal Pankaj B.,Alejandro Mercedes E.,Alvey Justin,Amendola Laura,Andrews Ashley,Ashley Euan A.,Azamian Mahshid S.,Bacino Carlos A.,Bademci Guney,Baker Eva,Balasubramanyam Ashok,Baldridge Dustin,Bale Jim,Bamshad Michael,Barbouth Deborah,Bayrak‐Toydemir Pinar,Beck Anita,Beggs Alan H.,Behrens Edward,Bejerano Gill,Bennet Jimmy,Berg‐Rood Beverly,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bivona Stephanie,Blue Elizabeth,Bohnsack John,Bonnenmann Carsten,Bonner Devon,Botto Lorenzo,Boyd Brenna,Briere Lauren C.,Brokamp Elly,Brown Gabrielle,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Byers Peter,Byrd William E.,Carey John,Carrasquillo Olveen,Chang Ta Chen Peter,Chanprasert Sirisak,Chao Hsiao‐Tuan,Clark Gary D.,Coakley Terra R.,Cobban Laurel A.,Cogan Joy D.,Coggins Matthew,Cole F. Sessions,Colley Heather A.,Cooper Cynthia M.,Cope Heidi,Craigen William J.,Crouse Andrew B.,Cunningham Michael,D’Souza Precilla,Dai Hongzheng,Dasari Surendra,Davis Joie,Dayal Jyoti G.,Deardorff Matthew,Dell’Angelica Esteban C.,Dhar Shweta U.,Dipple Katrina,Doherty Daniel,Dorrani Naghmeh,Doss Argenia L.,Douine Emilie D.,Draper David D.,Duncan Laura,Earl Dawn,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Esteves Cecilia,Falk Marni,Fernandez Liliana,Ferreira Carlos,Fieg Elizabeth L.,Findley Laurie C.,Fisher Paul G.,Fogel Brent L.,Forghani Irman,Fresard Laure,Gahl William A.,Glass Ian,Gochuico Bernadette,Godfrey Rena A.,Golden‐Grant Katie,Goldman Alica M.,Goldrich Madison P.,Goldstein David B.,Grajewski Alana,Groden Catherine A.,Gutierrez Irma,Hahn Sihoun,Hamid Rizwan,Hanchard Neil A.,Hassey Kelly,Hayes Nichole,High Frances,Hing Anne,Hisama Fuki M.,Holm Ingrid A.,Hom Jason,Horike‐Pyne Martha,Huang Alden,Huang Yong,Huryn Laryssa,Isasi Rosario,Jamal Fariha,Jarvik Gail P.,Jarvik Jeffrey,Jayadev Suman,Karaviti Lefkothea,Kennedy Jennifer,Kiley Dana,Kobren Shilpa N.,Kohane Isaac S.,Kohler Jennefer N.,Krakow Deborah,Krasnewich Donna M.,Kravets Elijah,Korrick Susan,Koziura Mary,Krier Joel B.,Lalani Seema R.,Lam Byron,Lam Christina,LaMoure Grace L.,Lanpher Brendan C.,Lanza Ian R.,Latham Lea,LeBlanc Kimberly,Lee Brendan H.,Lee Hane,Levitt Roy,Lewis Richard A.,Lincoln Sharyn A.,Liu Pengfei,Liu Xue Zhong,Longo Nicola,Loo Sandra K.,Loscalzo Joseph,Maas Richard L.,MacDowall John,Macnamara Ellen F.,MacRae Calum A.,Maduro Valerie V.,Majcherska Marta M.,Mak Bryan C.,Malicdan May Christine V.,Mamounas Laura A.,Manolio Teri A.,Mao Rong,Maravilla Kenneth,Markello Thomas C.,Marom Ronit,Marth Gabor,Martin Beth A.,Martin Martin G.,Martínez‐Agosto Julian A.,Marwaha Shruti,McCauley Jacob,McConkie‐Rosell Allyn,McCormack Colleen E.,McCray Alexa T.,McGee Elisabeth,Mefford Heather,Merritt J. Lawrence,Might Matthew,Mirzaa Ghayda,Morava Eva,Moretti Paolo M.,Mosbrook‐Davis Deborah,Mulvihill John J.,Murdock David R.,Nagy Anna,Nakano‐Okuno Mariko,Nath Avi,Nelson Stan F.,Newman John H.,Nicholas Sarah K.,Nickerson Deborah,Nieves‐Rodriguez Shirley,Novacic Donna,Oglesbee Devin,Orengo James P.,Pace Laura,Pak Stephen C.,Pallais J. Carl,Palmer Christina G. S.,Papp Jeanette C.,Parker Neil H.,Phillips John A.,Posey Jennifer E.,Potocki Lorraine,Power Bradley,Pusey Barbara N.,Quinlan Aaron,Raskind Wendy,Raja Archana N.,Rao Deepak A.,Renteria Genecee,Reuter Chloe M.,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Rosenwasser Natalie,Rossignol Francis,Ruzhnikov Maura,Sacco Ralph,Sampson Jacinda B.,Samson Susan L.,Saporta Mario,Scott C. Ron,Schaechter Judy,Schedl Timothy,Schoch Kelly,Scott Daryl A.,Shashi Vandana,Shin Jimann,Signer Rebecca,Silverman Edwin K.,Sinsheimer Janet S.,Sisco Kathy,Smith Edward C.,Smith Kevin S.,Solem Emily,Solnica‐Krezel Lilianna,Solomon Ben,Spillmann Rebecca C.,Stoler Joan M.,Sullivan Jennifer A.,Sullivan Kathleen,Sun Angela,Sutton Shirley,Sweetser David A.,Sybert Virginia,Tabor Holly K.,Tan Amelia L. M.,Tan Queenie K.‐G.,Tekin Mustafa,Telischi Fred,Thorson Willa,Thurm Audrey,Tifft Cynthia J.,Toro Camilo,Tran Alyssa A.,Tucker Brianna M.,Urv Tiina K.,Vanderver Adeline,Velinder Matt,Viskochil Dave,Vogel Tiphanie P.,Wahl Colleen E.,Wallace Stephanie,Walley Nicole M.,Walsh Chris A.,Walker Melissa,Wambach Jennifer,Wan Jijun,Wang Lee‐kai,Wangler Michael F.,Ward Patricia A.,Wegner Daniel,Wener Mark,Wenger Tara,Perry Katherine Wesseling,Westerfield Monte,Wheeler Matthew T.,Whitlock Jordan,Wolfe Lynne A.,Woods Jeremy D.,Yamamoto Shinya,Yang John,Yousef Muhammad,Zastrow Diane B.,Zein Wadih,Zhao Chunli,Zuchner Stephan,

Affiliation:

1. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA

2. Department of Neurology University of Miami Miller School of Medicine Miami Florida USA

3. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA

Funder

NIH Office of the Director

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference26 articles.

1. Long‐range cis‐regulatory elements controlling GDF6 expression are essential for ear development;Bademci G.;The Journal of clinical investigation,2020

2. Limitations of exome sequencing in detecting rare and undiagnosed diseases

3. Analysis of canonical and non-canonical splice sites in mammalian genomes

4. Genomic Enhancers in Brain Health and Disease

5. Poison exons in neurodevelopment and disease

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