Publications by authors named "Beryl B Cummings"

Eur J Hum Genet 2021 Jan 29;29(1):61-66. Epub 2020 Aug 29.

Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Nat Med 2020 06 27;26(6):869-877. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature 2020 05 27;581(7809):452-458. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature 2020 05 27;581(7809):434-443. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature 2020 05 27;581(7809):459-464. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nat Commun 2020 05 27;11(1):2539. Epub 2020 May 27.

Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.

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

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

Eur J Hum Genet 2019 08 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.

JCI Insight 2019 03 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.

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

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:

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.

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:

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

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

Nature 2018 03;555(7695):274

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.

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

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

Sci Transl Med 2017 04;9(386)

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

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

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

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.

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:

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

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