Paper Details

Paper Title

Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-KÃ¼ster-Hauser syndrome.

Paper Journal Title

HGG Adv

Paper Citation Count

Paper Publication Year

2023

Bio Mention

CNV null allele, Human, MRKH, MRKH type 1, MRKH type I, MRKH type II, Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, Mayer-Rokitansky-Kster-Hauser syndrome, aplasia of the female reproductive tract, congenital scoliosis, disease gene, hyperandrogenism, isolated uterine agenesis, renal anomalies, renal hypoplasia, skeletal anomalies, syndromic MRKH, uterine abnormalities, variant alleles

Mesh Descriptor

Author Name	Affiliation
Shalini N Jhangiani	Baylor College of Medicine (BCM)
Donna M Muzny	Baylor College of Medicine (BCM)
Donna M Muzny	Baylor College of Medicine (BCM)
Antigone S Dimas	Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming
Vernon R Sutton	Baylor College of Medicine (BCM)
Vernon R Sutton	Texas Children's Hospital
Richard A Gibbs	Baylor College of Medicine (BCM)
Richard A Gibbs	Baylor College of Medicine (BCM)
Richard A Gibbs	Baylor College of Medicine (BCM)
Richard A Gibbs	Baylor College of Medicine (BCM)
Stylianos E Antonarakis	University of Geneva Medical School
Stylianos E Antonarakis	the Swiss Institute of Genomic Medicine
Stylianos E Antonarakis	Institute of Genetics and Genomics in Geneva, University of Geneva
Zeynep Coban Akdemir	Baylor College of Medicine (BCM)
Jennifer E Posey	Baylor College of Medicine (BCM)
James R Lupski	Baylor College of Medicine (BCM)
James R Lupski	Baylor College of Medicine (BCM)
James R Lupski
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine (BCM)
James R Lupski	Baylor College of Medicine (BCM)
James R Lupski
James R Lupski	Texas Children's Hospital

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Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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