Alena Egense

Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature

K. Rauen, W. E. Tidyman, Y. Maeda, 2020, American journal of medical genetics. Part A.

Retinal dystrophies: A look beyond the eyes

S. Shankar, A. Moshiri, G. Yiu, 2022, American journal of ophthalmology case reports.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Genetic Counselors’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings

K. Maloney, S. Dixon, Yue Guan, 2018, Journal of Genetic Counseling.

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

R. Mao, S. Shankar, D. Quigley, 2022, Molecular genetics & genomic medicine.

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome

A. Kline, Amy Kimball, K. Barañano, 2022, Journal of child neurology.

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

I. Krantz, K. Shirahige, D. Dorsett, 2015, American journal of medical genetics. Part A.

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

U. Brinkmann, J. Stoler, F. Alkuraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Prader-Willi and Angelman Syndromes: Mechanisms and Management

Alena Egense, R. Mao, Makenzie L. Fulmer, 2023, The application of clinical genetics.