GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report

(2019) Morten K Herlin et al.   HUMAN REPRODUCTION

Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies

(2019) Lingbo Wang et al.   CELL RESEARCH

Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies

(2018) S. Ledig et al.   CLINICAL GENETICS

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

(2018) M. Rasmussen et al.   CLINICAL GENETICS

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

(2018) Isabelle Schrauwen et al.   HUMAN GENETICS

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

(2018) Amelie T. van der Ven et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

(2017) Patrick D. Brophy et al.   GENETICS

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

(2017) Sarah Boissel et al.   GENETICS IN MEDICINE

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

(2017) Patrick D. Brophy et al.   GENETICS

Etiologies of uterine malformations

(2016) Adeline Jacquinet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

(2016) L. Fontana et al.   CLINICAL GENETICS

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts

(2015) Ann-Christin Tewes et al.   FERTILITY AND STERILITY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature

(2014) Morten Herlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

(2013) Maria Sandbacka et al.   Orphanet Journal of Rare Diseases

The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review

(2011) Y.Y. Chan et al.   HUMAN REPRODUCTION UPDATE

High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

(2011) S. Nik-Zainal et al.   JOURNAL OF MEDICAL GENETICS

Hereditary urogenital adysplasia

(2010) R. Neil Schimke et al.   CLINICAL GENETICS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology