Daryl A. Scott

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.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

S. Lalani, U. Kini, B. Landis, 2023, European Journal of Human Genetics.

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

R. Hufnagel, A. Agopian, Pamela N. Luna, 2024, Investigative ophthalmology & visual science.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

S. Lalani, R. Louie, G. Chillemi, 2024, Nature communications.