Emily Alderman

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Phillip A. Richmond, C. Boerkoel, P. Cherukuri, 2022, American journal of medical genetics. Part A.

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

C. Boerkoel, A. Lehman, S. Turvey, 2022, European journal of medical genetics.

The practice of genomic medicine: A delineation of the process and its governing principles

L. Prentice, C. Boerkoel, S. Langlois, 2023, Frontiers in Medicine.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.