Shayna Svihovec

Rare SUZ12 variants commonly cause an overgrowth phenotype

Steven J. M. Jones, R. Weksberg, L. Bird, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical utility and cost‐effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center

S. Graw, K. Swisshelm, L. Bao, 2021, Journal of genetic counseling.

Germline predisposition to genitourinary rhabdomyosarcoma

N. Cost, K. Schultz, K. Schneider, 2020, Translational andrology and urology.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

A delivery service model for genetics: The use of a genetic counselor and nurse practitioner team for diagnosis and care in specific condition populations.

S. Stewart, Shayna Svihovec, 2022, Nursing Forum.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.