Lista de obras - Ada Hamosh - Dominio Público Uruguay

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado el 5 de abril de 2011

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de julio de 2011

Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism

artículo científico publicado en 2012

Association of human aging with a functional variant of klotho

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Concerns regarding transience and heterozygosity in neonatal hyperglycenemia ⬇️

artículo científico publicado el 1 de mayo de 2003

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

artículo científico publicado en 2010

Databases in Human and Medical Genetics

article

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

Heritability of lung disease severity in cystic fibrosis

artículo científico publicado en 2007

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

artículo científico publicado en 2015

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Matchmaker Exchange

artículo científico publicado en 2017

Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy ⬇️

artículo científico publicado el 19 de febrero de 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features ⬇️

artículo científico publicado el 4 de marzo de 2013

Planning the human variome project: the Spain report.

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2018

Progressive cavitating leukoencephalopathy: a novel childhood disease

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Lista de obras de Ada Hamosh

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

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

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

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

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

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 ⬇️

Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism

Association of human aging with a functional variant of klotho

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

Concerns regarding transience and heterozygosity in neonatal hyperglycenemia ⬇️

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

Databases in Human and Medical Genetics

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

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

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

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

Genomic analysis of partial 21q monosomies with variable phenotypes

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

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

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

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

Heritability of lung disease severity in cystic fibrosis

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

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

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

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

Matchmaker Exchange

Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy ⬇️

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

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

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

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

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

P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features ⬇️

Planning the human variome project: the Spain report.

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

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

Progressive cavitating leukoencephalopathy: a novel childhood disease

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

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

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

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

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

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

The Human Phenotype Ontology in 2017

The Human Phenotype Ontology in 2024: phenotypes around the world

The Matchmaker Exchange: a platform for rare disease gene discovery

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

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