Beryl B Cummings

Beryl B Cummings

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Beryl B Cummings

Beryl B Cummings

Publications by authors named "Beryl B Cummings"

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16Publications

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Authors:
Pejman Mohammadi Stephane E Castel Beryl B Cummings Jonah Einson Christina Sousa Paul Hoffman Sandra Donkervoort Zhuoxun Jiang Payam Mohassel A Reghan Foley Heather E Wheeler Hae Kyung Im Carsten G Bonnemann Daniel G MacArthur Tuuli Lappalainen

Science 2019 10 10;366(6463):351-356. Epub 2019 Oct 10.

New York Genome Center, New York, NY, USA.

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http://dx.doi.org/10.1126/science.aay0256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814274PMC
October 2019

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Authors:
Lisa G Riley Leigh B Waddell Roula Ghaoui Frances J Evesson Beryl B Cummings Samantha J Bryen Himanshu Joshi Min-Xia Wang Susan Brammah Leonard Kritharides Alastair Corbett Daniel G MacArthur Sandra T Cooper

Eur J Hum Genet 2019 Aug 25;27(8):1267-1273. Epub 2019 Apr 25.

Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1038/s41431-019-0393-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777463PMC
August 2019

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Authors:
Véronique Bolduc A Reghan Foley Herimela Solomon-Degefa Apurva Sarathy Sandra Donkervoort Ying Hu Grace S Chen Katherine Sizov Matthew Nalls Haiyan Zhou Sara Aguti Beryl B Cummings Monkol Lek Taru Tukiainen Jamie L Marshall Oded Regev Dina Marek-Yagel Anna Sarkozy Russell J Butterfield Cristina Jou Cecilia Jimenez-Mallebrera Yan Li Corine Gartioux Kamel Mamchaoui Valérie Allamand Francesca Gualandi Alessandra Ferlini Eric Hanssen Steve D Wilton Shireen R Lamandé Daniel G MacArthur Raimund Wagener Francesco Muntoni Carsten G Bönnemann

JCI Insight 2019 Mar 21;4(6). Epub 2019 Mar 21.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1172/jci.insight.124403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483063PMC
March 2019

The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:
Jacob C Ulirsch Jeffrey M Verboon Shideh Kazerounian Michael H Guo Daniel Yuan Leif S Ludwig Robert E Handsaker Nour J Abdulhay Claudia Fiorini Giulio Genovese Elaine T Lim Aaron Cheng Beryl B Cummings Katherine R Chao Alan H Beggs Casie A Genetti Colin A Sieff Peter E Newburger Edyta Niewiadomska Michal Matysiak Adrianna Vlachos Jeffrey M Lipton Eva Atsidaftos Bertil Glader Anupama Narla Pierre-Emmanuel Gleizes Marie-Françoise O'Donohue Nathalie Montel-Lehry David J Amor Steven A McCarroll Anne H O'Donnell-Luria Namrata Gupta Stacey B Gabriel Daniel G MacArthur Eric S Lander Monkol Lek Lydie Da Costa David G Nathan Andrei A Korostelev Ron Do Vijay G Sankaran Hanna T Gazda

Am J Hum Genet 2019 Feb;104(2):356

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372259PMC
February 2019

A quantitative framework for characterizing the evolutionary history of mammalian gene expression.

Authors:
Jenny Chen Ross Swofford Jeremy Johnson Beryl B Cummings Noga Rogel Kerstin Lindblad-Toh Wilfried Haerty Federica di Palma Aviv Regev

Genome Res 2019 01 14;29(1):53-63. Epub 2018 Dec 14.

Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

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http://genome.cshlp.org/lookup/doi/10.1101/gr.237636.118
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http://dx.doi.org/10.1101/gr.237636.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314168PMC
January 2019

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Authors:
Rocio Rius Lisa G Riley Yiran Guo Minal Menezes Alison G Compton Nicole J Van Bergen Velimir Gayevskiy Mark J Cowley Beryl B Cummings Louisa Adams Carolyn Ellaway David R Thorburn Hakon Hakonarson John Christodoulou

Mol Genet Metab 2019 01 11;126(1):77-82. Epub 2018 Dec 11.

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.002DOI Listing
January 2019

The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:
Jacob C Ulirsch Jeffrey M Verboon Shideh Kazerounian Michael H Guo Daniel Yuan Leif S Ludwig Robert E Handsaker Nour J Abdulhay Claudia Fiorini Giulio Genovese Elaine T Lim Aaron Cheng Beryl B Cummings Katherine R Chao Alan H Beggs Casie A Genetti Colin A Sieff Peter E Newburger Edyta Niewiadomska Michal Matysiak Adrianna Vlachos Jeffrey M Lipton Eva Atsidaftos Bertil Glader Anupama Narla Pierre-Emmanuel Gleizes Marie-Françoise O'Donohue Nathalie Montel-Lehry David J Amor Steven A McCarroll Anne H O'Donnell-Luria Namrata Gupta Stacey B Gabriel Daniel G MacArthur Eric S Lander Monkol Lek Lydie Da Costa David G Nathan Andrei A Korostelev Ron Do Vijay G Sankaran Hanna T Gazda

Am J Hum Genet 2018 12 29;103(6):930-947. Epub 2018 Nov 29.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288280PMC
December 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Authors:
Emily C Oates Kristi J Jones Sandra Donkervoort Amanda Charlton Susan Brammah John E Smith James S Ware Kyle S Yau Lindsay C Swanson Nicola Whiffin Anthony J Peduto Adam Bournazos Leigh B Waddell Michelle A Farrar Hugo A Sampaio Hooi Ling Teoh Phillipa J Lamont David Mowat Robin B Fitzsimons Alastair J Corbett Monique M Ryan Gina L O'Grady Sarah A Sandaradura Roula Ghaoui Himanshu Joshi Jamie L Marshall Melinda A Nolan Simranpreet Kaur Jaya Punetha Ana Töpf Elizabeth Harris Madhura Bakshi Casie A Genetti Minttu Marttila Ulla Werlauff Nathalie Streichenberger Alan Pestronk Ingrid Mazanti Jason R Pinner Carole Vuillerot Carla Grosmann Ana Camacho Payam Mohassel Meganne E Leach A Reghan Foley Diana Bharucha-Goebel James Collins Anne M Connolly Heather R Gilbreath Susan T Iannaccone Diana Castro Beryl B Cummings Richard I Webster Leïla Lazaro John Vissing Sandra Coppens Nicolas Deconinck Ho-Ming Luk Neil H Thomas Nicola C Foulds Marjorie A Illingworth Sian Ellard Catriona A McLean Rahul Phadke Gianina Ravenscroft Nanna Witting Peter Hackman Isabelle Richard Sandra T Cooper Erik-Jan Kamsteeg Eric P Hoffman Kate Bushby Volker Straub Bjarne Udd Ana Ferreiro Kathryn N North Nigel F Clarke Monkol Lek Alan H Beggs Carsten G Bönnemann Daniel G MacArthur Henk Granzier Mark R Davis Nigel G Laing

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Authors:
Sarah A Sandaradura Adam Bournazos Amali Mallawaarachchi Beryl B Cummings Leigh B Waddell Kristi J Jones Christopher Troedson Annapurna Sudarsanam Benjamin M Nash Gregory B Peters Elizabeth M Algar Daniel G MacArthur Kathryn N North Susan Brammah Amanda Charlton Nigel G Laing Meredith J Wilson Mark R Davis Sandra T Cooper

Hum Mutat 2018 03 13;39(3):383-388. Epub 2018 Jan 13.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://doi.wiley.com/10.1002/humu.23385
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http://dx.doi.org/10.1002/humu.23385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805634PMC
March 2018

Corrigendum: Landscape of X chromosome inactivation across human tissues.

Authors:
Taru Tukiainen Alexandra-Chloé Villani Angela Yen Manuel A Rivas Jamie L Marshall Rahul Satija Matt Aguirre Laura Gauthier Mark Fleharty Andrew Kirby Beryl B Cummings Stephane E Castel Konrad J Karczewski François Aguet Andrea Byrnes GTEx Consortium Tuuli Lappalainen Aviv Regev Kristin G Ardlie Nir Hacohen Daniel G MacArthur

Nature 2018 03;555(7695):274

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http://www.nature.com/doifinder/10.1038/nature25993
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http://dx.doi.org/10.1038/nature25993DOI Listing
March 2018

Landscape of X chromosome inactivation across human tissues.

Authors:
Taru Tukiainen Alexandra-Chloé Villani Angela Yen Manuel A Rivas Jamie L Marshall Rahul Satija Matt Aguirre Laura Gauthier Mark Fleharty Andrew Kirby Beryl B Cummings Stephane E Castel Konrad J Karczewski François Aguet Andrea Byrnes Tuuli Lappalainen Aviv Regev Kristin G Ardlie Nir Hacohen Daniel G MacArthur

Nature 2017 10;550(7675):244-248

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1038/nature24265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685192PMC
October 2017

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Authors:
Colleen M Carlston Anne H O'Donnell-Luria Hunter R Underhill Beryl B Cummings Ben Weisburd Eric V Minikel Daniel P Birnbaum Tatiana Tvrdik Daniel G MacArthur Rong Mao

Hum Mutat 2017 05 21;38(5):517-523. Epub 2017 Mar 21.

Department of Pathology, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/humu.23203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487276PMC
May 2017

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:
Beryl B Cummings Jamie L Marshall Taru Tukiainen Monkol Lek Sandra Donkervoort A Reghan Foley Veronique Bolduc Leigh B Waddell Sarah A Sandaradura Gina L O'Grady Elicia Estrella Hemakumar M Reddy Fengmei Zhao Ben Weisburd Konrad J Karczewski Anne H O'Donnell-Luria Daniel Birnbaum Anna Sarkozy Ying Hu Hernan Gonorazky Kristl Claeys Himanshu Joshi Adam Bournazos Emily C Oates Roula Ghaoui Mark R Davis Nigel G Laing Ana Topf Peter B Kang Alan H Beggs Kathryn N North Volker Straub James J Dowling Francesco Muntoni Nigel F Clarke Sandra T Cooper Carsten G Bönnemann Daniel G MacArthur

Sci Transl Med 2017 04;9(386)

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.aal5209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548421PMC
April 2017

The ExAC browser: displaying reference data information from over 60 000 exomes.

Authors:
Konrad J Karczewski Ben Weisburd Brett Thomas Matthew Solomonson Douglas M Ruderfer David Kavanagh Tymor Hamamsy Monkol Lek Kaitlin E Samocha Beryl B Cummings Daniel Birnbaum Mark J Daly Daniel G MacArthur

Nucleic Acids Res 2017 01 28;45(D1):D840-D845. Epub 2016 Nov 28.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1093/nar/gkw971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210650PMC
January 2017

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

Authors:
Gina L O'Grady Heather A Best Tamar E Sztal Vanessa Schartner Myriam Sanjuan-Vazquez Sandra Donkervoort Osorio Abath Neto Roger Bryan Sutton Biljana Ilkovski Norma Beatriz Romero Tanya Stojkovic Jahannaz Dastgir Leigh B Waddell Anne Boland Ying Hu Caitlin Williams Avnika A Ruparelia Thierry Maisonobe Anthony J Peduto Stephen W Reddel Monkol Lek Taru Tukiainen Beryl B Cummings Himanshu Joshi Juliette Nectoux Susan Brammah Jean-François Deleuze Viola Oorschot Ing Georg Ramm Didem Ardicli Kristen J Nowak Beril Talim Haluk Topaloglu Nigel G Laing Kathryn N North Daniel G MacArthur Sylvie Friant Nigel F Clarke Robert J Bryson-Richardson Carsten G Bönnemann Jocelyn Laporte Sandra T Cooper

Am J Hum Genet 2016 Nov 13;99(5):1086-1105. Epub 2016 Oct 13.

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097943PMC
November 2016

Analysis of protein-coding genetic variation in 60,706 humans.

Authors:
Monkol Lek Konrad J Karczewski Eric V Minikel Kaitlin E Samocha Eric Banks Timothy Fennell Anne H O'Donnell-Luria James S Ware Andrew J Hill Beryl B Cummings Taru Tukiainen Daniel P Birnbaum Jack A Kosmicki Laramie E Duncan Karol Estrada Fengmei Zhao James Zou Emma Pierce-Hoffman Joanne Berghout David N Cooper Nicole Deflaux Mark DePristo Ron Do Jason Flannick Menachem Fromer Laura Gauthier Jackie Goldstein Namrata Gupta Daniel Howrigan Adam Kiezun Mitja I Kurki Ami Levy Moonshine Pradeep Natarajan Lorena Orozco Gina M Peloso Ryan Poplin Manuel A Rivas Valentin Ruano-Rubio Samuel A Rose Douglas M Ruderfer Khalid Shakir Peter D Stenson Christine Stevens Brett P Thomas Grace Tiao Maria T Tusie-Luna Ben Weisburd Hong-Hee Won Dongmei Yu David M Altshuler Diego Ardissino Michael Boehnke John Danesh Stacey Donnelly Roberto Elosua Jose C Florez Stacey B Gabriel Gad Getz Stephen J Glatt Christina M Hultman Sekar Kathiresan Markku Laakso Steven McCarroll Mark I McCarthy Dermot McGovern Ruth McPherson Benjamin M Neale Aarno Palotie Shaun M Purcell Danish Saleheen Jeremiah M Scharf Pamela Sklar Patrick F Sullivan Jaakko Tuomilehto Ming T Tsuang Hugh C Watkins James G Wilson Mark J Daly Daniel G MacArthur

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
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http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016