Christopher M. Grochowski

Detection of mosaic and population-level structural variants with Sniffles2

Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski et al. · Nature Biotechnology · 2024 · 439 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Alagille syndrome mutation update: Comprehensive overview of<i>JAG1</i>and<i>NOTCH2</i>mutation frequencies and insight into missense variant classification

Melissa A. Gilbert, Robert C. Bauer, Ramakrishnan Rajagopalan et al. · Human Mutation · 2019 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş et al. · The American Journal of Human Genetics · 2019 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici et al. · The American Journal of Human Genetics · 2021 · 102 citations · Full text

Life Sciences, Molecular Medicine, Neuroscience +15