List of works by Ada Hamosh

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

scientific article published on 19 May 2009

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

scientific article published in March 2008

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

scientific article published on 15 November 2012

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

scientific article

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

scientific article published on 18 October 2013

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

scientific article published in July 2011

Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism

scientific article

Association of human aging with a functional variant of klotho

scientific article

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

scientific article

Concerns regarding transience and heterozygosity in neonatal hyperglycenemia ⬇️

scientific article published on May 1, 2003

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

scientific article (publication date: 14 May 2010)

Databases in Human and Medical Genetics

article

Development of human protein reference database as an initial platform for approaching systems biology in humans

scientific article (publication date: October 2003)

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016

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

scientific article published on 17 December 2003

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

scientific article published on 29 July 2015

Genomic analysis of partial 21q monosomies with variable phenotypes

scientific article published on 08 September 2010

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

scientific article published on 23 September 2015

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

scientific article

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

scientific article

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

scientific article

Heritability of lung disease severity in cystic fibrosis

scientific article

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

scientific article

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

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

scientific article

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

scientific article published on 27 July 2016

Matchmaker Exchange

scientific article

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

scientific article published on 19 February 2013

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

scientific journal article

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

scientific article

NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

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

scientific article

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

scientific article

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

scientific article from 2002

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

scientific article published on 04 March 2013

Planning the human variome project: the Spain report.

scientific article published in April 2009

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

scientific article

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomi

scientific article published on 11 January 2018

Progressive cavitating leukoencephalopathy: a novel childhood disease

scientific article published in December 2005

Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis

scientific article

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

scientific article published on 27 June 2017

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

scientific article published in May 2007

TOWARDS COORDINATED INTERNATIONAL SUPPORT OF CORE DATA RESOURCES FOR THE LIFE SCIENCES

scientific article (publication date: 23 February 2017)

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

scientific article published on 24 May 2012

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

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

scientific article

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

scientific article

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