C. Kiss

发表

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

The landscape of epilepsy-related GATOR1 variants

A. Biraben, F. Bartolomei, P. Striano, 2018, Genetics in Medicine.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

P. Striano, L. Bird, D. Chitayat, 2022, Brain : a journal of neurology.

Missense variant contribution to USP9X-female syndrome

M. Shaw, J. Gécz, L. Pérez-Jurado, 2020, npj Genomic Medicine.

Novel FGF9 variant contributes to multiple synostoses syndrome 3

M. Glucksman, Stephanie M. Dobson, D. Borschneck, 2022, American journal of medical genetics. Part A.

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

H. Khanna, A. Guerin, M. A. Quezada-Ramírez, 2022, Frontiers in Genetics.

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

J. MacKenzie, W. Reginold, K. Harrison, 2016, Case reports in pediatrics.

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.