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Rare Variant Enrichment Analysis Supports GREB1L As a Contributory Driver Gene in the Etiology of Mayer-Rokitansky-Küster-Hauser Syndrome

Angad Jolly,Haowei Du,Christelle Borel,Na Chen,Sen Zhao,Christopher M. Grochowski,Ruizhi Duan,Jawid M. Fatih,Moez Dawood,Sejal Salvi,Shalini N. Jhangiani,Donna M. Muzny,Andre Koch,Konstantinos Rouskas,Stavros Glentis,Efthymios Deligeoroglou,Flora Bacopoulou,Carol A. Wise,Jennifer E. Dietrich,Ignatia B. Van den Veyver,Antigone S. Dimas,Sara Brucker,V. Reid Sutton,Richard A. Gibbs,Stylianos E. Antonarakis,Na Wu,Zeynep H. Coban-Akdemir,Lan Zhu,Jennifer E. Posey,James R. Lupski

HUMAN GENETICS AND GENOMICS ADVANCES（2023）

Cited 3|Views70
Key words
rare variant gene enrichment,exonic deletion CNV,Alu-Alu mediated rearrangement,developmental genomics,genitourinary development,infertility,sex-limited trait,transcriptional regulation,human phenotype ontology
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