Janis Stavusis

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Elisabeth Mangold, Anne C. Böhmer, Nina Ishorst et al. · The American Journal of Human Genetics · 2016 · 102 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +10

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Novel mutations in <i>MYBPC1</i> are associated with myogenic tremor and mild myopathy

Janis Stavusis, Baiba Lāce, Jochen Schäfer et al. · Annals of Neurology · 2019 · 42 citations · Full text

Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor

Janelle Geist Hauserman, Janis Stavusis, Humberto C. Joca et al. · JCI Insight · 2021 · 16 citations · Full text

Muscle Function, Engineering, Pathology +17

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

Inga Kempa, Laima Ambrozaitytė, Janis Stavusis et al. · PubMed · 2014 · 12 citations

Developmental Biology, Genetic Disorder, Genetics +15