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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

R. Pfundt, R. Louie, K. Girisha, 2022, bioRxiv.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

F. Bartel, B. Dupont, K. Corning, 2011, American journal of medical genetics. Part A.

Clinical and behavioral characteristics in FG syndrome.

C. Schwartz, J. Graham, R. C. Rogers, 1999, American journal of medical genetics.

FG syndrome: report of three new families with linkage to Xq12-q22.1.

C. Schwartz, J. Graham, K. Corning, 1998, American journal of medical genetics.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

R. Pfundt, N. Katsanis, S. Banka, 2017, American journal of human genetics.

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

F. Bartel, B. Dupont, K. Corning, 2011, American journal of medical genetics. Part A.