Ada Hamosh

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. pmc McKusick's Online Mendelian Inheritance in Man (OMIM)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nucleic Acids Res 37:D793-6. 2009
  2. pmc PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features
    Ada Hamosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Hum Mutat 34:566-71. 2013
  3. pmc Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    Ada Hamosh
    Nucleic Acids Res 33:D514-7. 2005
  4. pmc Heritability of lung disease severity in cystic fibrosis
    Lori L Vanscoy
    Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Respir Crit Care Med 175:1036-43. 2007
  5. pmc Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    Ada Hamosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Blalock 1007, Baltimore, MD 21287 4922, USA
    Nucleic Acids Res 30:52-5. 2002
  6. pmc Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing
    Nara L M Sobreira
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Genome Res 21:1720-7. 2011
  7. pmc Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
    Scott M Blackman
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21287, USA
    Gastroenterology 131:1030-9. 2006
  8. pmc Genomic analysis of partial 21q monosomies with variable phenotypes
    Elisha D O Roberson
    Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA
    Eur J Hum Genet 19:235-8. 2011
  9. doi request reprint A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Hum Mutat 32:564-7. 2011
  10. ncbi request reprint 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition
    Feng Li
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
    Eur J Med Genet 52:349-52. 2009

Collaborators

Detail Information

Publications18

  1. pmc McKusick's Online Mendelian Inheritance in Man (OMIM)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nucleic Acids Res 37:D793-6. 2009
    ..Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology...
  2. pmc PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features
    Ada Hamosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Hum Mutat 34:566-71. 2013
    ..PhenoDB was built using Django, an open source Web development tool, and is freely available through the Johns Hopkins McKusick-Nathans Institute of Genetic Medicine (http://phenodb.net)...
  3. pmc Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    Ada Hamosh
    Nucleic Acids Res 33:D514-7. 2005
    ..OMIM is an easy and straightforward portal to the burgeoning information in human genetics...
  4. pmc Heritability of lung disease severity in cystic fibrosis
    Lori L Vanscoy
    Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Respir Crit Care Med 175:1036-43. 2007
    ..Obstructive lung disease, the major cause of mortality in cystic fibrosis (CF), is poorly correlated with mutations in the disease-causing gene, indicating that other factors determine severity of lung disease...
  5. pmc Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    Ada Hamosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Blalock 1007, Baltimore, MD 21287 4922, USA
    Nucleic Acids Res 30:52-5. 2002
    ..OMIM is an easy and straightforward portal to the burgeoning information in human genetics...
  6. pmc Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing
    Nara L M Sobreira
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Genome Res 21:1720-7. 2011
    ..Preliminary studies indicated complex rearrangements in patients 1 and 3 with a total of 10 predicted breakpoints in the three patients. By using TBCS, we quickly and precisely defined eight of the 10 breakpoints...
  7. pmc Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
    Scott M Blackman
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21287, USA
    Gastroenterology 131:1030-9. 2006
    ..Our aim was to determine the relative contribution of genetic and nongenetic modifiers to the development of this major complication of CF...
  8. pmc Genomic analysis of partial 21q monosomies with variable phenotypes
    Elisha D O Roberson
    Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA
    Eur J Hum Genet 19:235-8. 2011
    ....
  9. doi request reprint A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Hum Mutat 32:564-7. 2011
    ..This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org)...
  10. ncbi request reprint 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition
    Feng Li
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
    Eur J Med Genet 52:349-52. 2009
    ..This case expands the phenotypic findings associated with 3q29 microdeletion syndrome, suggesting an association with cardiac defect. It also raises the possibility of normal cognition in adulthood...
  11. doi request reprint Mosaic trisomy 13: understanding origin using SNP array
    Natini Jinawath
    Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
    J Med Genet 48:323-6. 2011
    ..Microsatellite analyses of trisomy 13 have indicated the high incidence of maternal meiotic origin and reduced recombination, but no study has focused on mosaic trisomy 13 in live born patients...
  12. ncbi request reprint Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation
    Ronald D Cohn
    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
    Pediatrics 118:e514-21. 2006
    ..Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation...
  13. ncbi request reprint 3q29 interstitial microduplication: a new syndrome in a three-generation family
    Emily C Lisi
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Am J Med Genet A 146:601-9. 2008
    ..Both syndromes are proposed to occur by non-allelic homologous recombination between regions of low copy repeats present around the breakpoints...
  14. pmc Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
    Mary Armanios
    Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 102:15960-4. 2005
    ..This finding emphasizes the importance of telomere maintenance and telomerase dosage for maintaining tissue proliferative capacity and has relevance for understanding mechanisms of age-related changes...
  15. ncbi request reprint Problematic variation in local institutional review of a multicenter genetic epidemiology study
    Rita McWilliams
    Bloomberg School of Public Health, Johns Hopkins Medical Institutions, Baltimore, MD, USA
    JAMA 290:360-6. 2003
    ..Sequencing of the human genome provides an immense resource for studies correlating DNA variation and epidemiology. However, appropriately powered genetic epidemiology studies often require recruitment from multiple sites...
  16. pmc Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy
    Teresa Martino
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Blalock 1008, Baltimore, MD 21287, USA
    Mol Genet Metab 109:3-8. 2013
    ..Furthermore, we demonstrate that phenylalanine tolerance increases significantly by trimester in women with classical and variant hyperphenylalaninemia...
  17. ncbi request reprint Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization
    Colyn Cargile Cain
    Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Prenat Diagn 27:373-9. 2007
    ..To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome...
  18. pmc Development of human protein reference database as an initial platform for approaching systems biology in humans
    Suraj Peri
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Genome Res 13:2363-71. 2003
    ..hprd.org to the academic community. This unified bioinformatics platform will be useful in cataloging and mining the large number of proteomic interactions and alterations that will be discovered in the postgenomic era...