Sarah Montgomery

Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review

Yong-hui Jiang, A. McConkie-Rosell, Lara J. Duffney, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Ethan M. Goldberg, P. May, P. Striano, 2022, Neurology.

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

P. May, P. Striano, H. Lerche, 2021, medRxiv.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Antonarakis, Noskova, Meadows, 2022, medRxiv.

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

M. Shinawi, B. Cogné, Georgia Vasileiou, 2023, Clinical genetics.