Ada Hamosh

Ada Hamosh

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Ada Hamosh

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

Am J Hum Genet 2019 Jul 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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http://dx.doi.org/10.1016/j.ajhg.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612515PMC
July 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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http://www.nature.com/articles/s41436-018-0076-7
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http://dx.doi.org/10.1038/s41436-018-0076-7DOI Listing
February 2019

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

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

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

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323937PMC
January 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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http://dx.doi.org/10.1002/cphg.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016856PMC
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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http://dx.doi.org/10.1002/cpbi.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5662200PMC
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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http://dx.doi.org/10.1002/ajmg.a.37620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702463PMC
June 2016

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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http://dx.doi.org/10.1038/gim.2014.196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496331PMC
October 2015

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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http://dx.doi.org/10.1002/humu.22844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833888PMC
October 2015

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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http://dx.doi.org/10.1038/gim.2014.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859213PMC
February 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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http://dx.doi.org/10.1093/nar/gku1205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383985PMC
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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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btu508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221119PMC
November 2014

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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http://dx.doi.org/10.1002/ajmg.a.36526DOI Listing
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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http://dx.doi.org/10.1002/mds.25703DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2013.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639475PMC
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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http://dx.doi.org/10.1002/humu.22283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627299PMC
April 2013

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Am J Med Genet A 2013 Apr 12;161A(4):822-8. Epub 2013 Mar 12.

Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1002/ajmg.a.35699DOI Listing
April 2013

Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism.

Neonatology 2012 12;102(3):203-11. Epub 2012 Jul 12.

Department of Neonatology, University Children's Hospital Vienna, Vienna, Austria.

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http://dx.doi.org/10.1159/000339567DOI Listing
February 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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https://linkinghub.elsevier.com/retrieve/pii/S10967192120041
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http://dx.doi.org/10.1016/j.ymgme.2012.11.003DOI Listing
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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http://dx.doi.org/10.1101/gr.122986.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202288PMC
October 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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http://dx.doi.org/10.1136/jmg.2010.083931DOI Listing
May 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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http://dx.doi.org/10.1002/humu.21466DOI Listing
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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http://dx.doi.org/10.1038/ejhg.2010.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025784PMC
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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http://dx.doi.org/10.1177/0009922809342893DOI Listing
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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http://dx.doi.org/10.1016/j.ejmg.2009.05.001DOI Listing
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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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 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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http://dx.doi.org/10.1093/nar/gkn665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686440PMC
January 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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http://dx.doi.org/10.1016/j.ymgme.2008.10.007DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.32190DOI Listing
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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http://dx.doi.org/10.1056/NEJMoa066596DOI Listing
May 2007

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.

Prenat Diagn 2007 Apr;27(4):373-9

Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/pd.1674DOI Listing
April 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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http://dx.doi.org/10.1542/peds.2005-1307DOI Listing
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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http://dx.doi.org/10.1002/ana.20671DOI Listing
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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http://dx.doi.org/10.1203/01.PDR.0000110522.78194.5BDOI Listing
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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http://dx.doi.org/10.1001/jama.290.3.360DOI Listing
July 2003

Concerns regarding transience and heterozygosity in neonatal hyperglycenemia.

Ann Neurol 2003 May;53(5):685; author reply 685-6

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http://dx.doi.org/10.1002/ana.10532DOI Listing
May 2003

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC99152PMC
http://dx.doi.org/10.1093/nar/30.1.52DOI Listing
January 2002

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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http://dx.doi.org/10.1073/pnas.022484299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC117395PMC
January 2002