Christopher M. Grochowski
0000-0002-3884-7720
Baylor College of Medicine
4 papers found
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Phenotypic Expansion in KIF1A ‐related Dominant Disorders: A Description of Novel Variants and Review of Published Cases
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