Publications by authors named "Ada Hamosh"

68Publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Dec;143(11):3242-3261

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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December 2020

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2021 01 24;185(1):119-133. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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January 2021

What's in a name? Issues to consider when naming Mendelian disorders.

Genet Med 2020 Oct 18;22(10):1573-1575. Epub 2020 Jun 18.

Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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October 2020

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.

Annu Rev Genomics Hum Genet 2020 08 27;21:305-326. Epub 2020 Apr 27.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA; email:

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August 2020

The utility of exome sequencing for fetal pleural effusions.

Prenat Diagn 2020 04 17;40(5):590-595. Epub 2020 Feb 17.

Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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April 2020

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Am J Hum Genet 2019 07 6;105(1):48-64. Epub 2019 Jun 6.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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July 2019

OMIM.org: leveraging knowledge across phenotype-gene relationships.

Nucleic Acids Res 2019 01;47(D1):D1038-D1043

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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January 2019

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education.

Genet Med 2019 02 21;21(2):493-497. Epub 2018 Jun 21.

Department of Pediatrics, The Johns Hopkins University, Baltimore, Maryland, USA.

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February 2019

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 10 18;95:9.31.1-9.31.15. Epub 2017 Oct 18.

The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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October 2017

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.

Curr Protoc Bioinformatics 2017 06 27;58:1.2.1-1.2.12. Epub 2017 Jun 27.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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June 2017

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Am J Med Genet A 2016 06 21;170(6):1600-2. Epub 2016 Mar 21.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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June 2016

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Hum Mutat 2015 Oct 13;36(10):928-30. Epub 2015 Aug 13.

Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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October 2015

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

Genet Med 2015 Oct 8;17(10):782-8. Epub 2015 Jan 8.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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October 2015

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Nucleic Acids Res 2015 Jan 26;43(Database issue):D789-98. Epub 2014 Nov 26.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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January 2015

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Bioinformatics 2014 Nov 30;30(22):3215-22. Epub 2014 Jul 30.

Mouse Informatics Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Genome Informatics Department, Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA, Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-701 Poznan, Poland, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin and Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany Mouse Informatics Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Genome Informatics Department, Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA, Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-701 Poznan, Poland, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin and Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany Mouse Informatics Group, The Wellcome Trust Sang

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November 2014

Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.

Genet Med 2015 Feb 17;17(2):158-63. Epub 2014 Jul 17.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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February 2015

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Am J Med Genet A 2014 Jul 4;164A(7):1802-7. Epub 2014 Apr 4.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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July 2014

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Mov Disord 2013 Dec 18;28(14):1937-8. Epub 2013 Oct 18.

Department of Neurology, The Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, MD.

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December 2013

Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.

Mol Genet Metab 2013 May 19;109(1):3-8. Epub 2013 Feb 19.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Blalock 1008, Baltimore, MD 21287, USA.

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May 2013

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hum Mutat 2013 Apr 4;34(4):566-71. Epub 2013 Mar 4.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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April 2013

A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.

Mol Genet Metab 2013 Jan 15;108(1):8-12. Epub 2012 Nov 15.

Ann and Robert H. Lurie Children's Hospital of Chicago (formerly Children's Memorial Hospital), Chicago, IL 60601, USA.

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January 2013

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Genome Res 2011 Oct 2;21(10):1720-7. Epub 2011 Sep 2.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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October 2011

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

Hum Mutat 2011 May 5;32(5):564-7. Epub 2011 Apr 5.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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May 2011

Mosaic trisomy 13: understanding origin using SNP array.

J Med Genet 2011 May 19;48(5):323-6. Epub 2010 Nov 19.

Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.

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May 2011

Genomic analysis of partial 21q monosomies with variable phenotypes.

Eur J Hum Genet 2011 Feb 8;19(2):235-8. Epub 2010 Sep 8.

Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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February 2011

False negative cystic fibrosis newborn screen.

Clin Pediatr (Phila) 2010 Mar;49(3):214-6

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, 200 N. Wolfe Street, Baltimore, MD 21287, USA.

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March 2010

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.

Eur J Med Genet 2009 Sep-Oct;52(5):349-52. Epub 2009 May 19.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.

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November 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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April 2009

Citrin deficiency, a perplexing global disorder.

Mol Genet Metab 2009 Jan 25;96(1):44-9. Epub 2008 Nov 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

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January 2009

McKusick's Online Mendelian Inheritance in Man (OMIM).

Nucleic Acids Res 2009 Jan 8;37(Database issue):D793-6. Epub 2008 Oct 8.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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January 2009

3q29 interstitial microduplication: a new syndrome in a three-generation family.

Am J Med Genet A 2008 Mar;146A(5):601-9

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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March 2008

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

N Engl J Med 2007 May;356(22):2282-92

Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

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May 2007

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Pediatrics 2006 Aug 30;118(2):e514-21. Epub 2006 Jun 30.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children's Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA.

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August 2006

Progressive cavitating leukoencephalopathy: a novel childhood disease.

Ann Neurol 2005 Dec;58(6):929-38

Neurogenetics Department, Kennedy Krieger Institute and the Johns Hopkins Medical Institutions, 707 N. Broadway, 5th Floor Tower, Baltimore, MD 21205, USA.

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December 2005

Gastric function in children with cystic fibrosis: effect of diet on gastric lipase levels and fat digestion.

Pediatr Res 2004 Mar 17;55(3):457-65. Epub 2003 Dec 17.

Faculte de Medecine de la Timone, INSERM Unite 476, Nutrition Humaine et Lipides, 27 Boulevard Jean Moulin, 13005 Marseille, France.

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March 2004

Problematic variation in local institutional review of a multicenter genetic epidemiology study.

JAMA 2003 Jul;290(3):360-6

Bloomberg School of Public Health, Johns Hopkins Medical Institutions, Baltimore, Md, USA.

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July 2003

Association of human aging with a functional variant of klotho.

Proc Natl Acad Sci U S A 2002 Jan 15;99(2):856-61. Epub 2002 Jan 15.

Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

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January 2002

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Nucleic Acids Res 2002 Jan;30(1):52-5

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Blalock 1007, Baltimore, MD 21287-4922, USA.

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January 2002