Janis Stavusis - Concepedia

Author

Janis Stavusis

Latvian Biomedical Research and Study Centre ORCID

Also Known As

J. Stavusis, Janis Stavusis

Publications

348

Citations

H-Index

Concepts

All Affiliations

Latvian Biomedical Research and Study Centre Tartu University Hospital University of Maryland, Baltimore Children's Clinical University Hospital University of Tartu

About

Janis Stavusis is an author at Latvian Biomedical Research and Study Centre specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	192
2	Engineering	1	1	16
3	Public Health	1	1	12
4	Cell Biology	1	1	16
5	Molecular Genetics	1	1	102

Janis Stavusis

Publications

256

Citations

H-Index

Page 1

	Year	Citations
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, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyGenetic DisorderMedicineGenetics	2016	102
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, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsInherited Metabolic Disease	2019	51
Novel mutations in <i>MYBPC1</i> are associated with myogenic tremor and mild myopathy Janis Stavusis, Baiba Lāce, Jochen Schäfer, Annals of Neurology	2019	42
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor Janelle Geist Hauserman, Janis Stavusis, Humberto C. Joca, JCI Insight Muscle FunctionEngineeringPathologyEarly-onset MyopathyCytoskeleton	2021	16
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, PubMed Developmental BiologyGenetic DisorderGeneticsGenetic EpidemiologyIsolated Cleft Palate	2014	12
Case Report: Two Families With HPDL Related Neurodegeneration Ieva Mičule, Baiba Lāce, Nathan T. Wright, Frontiers in Genetics	2022	12
Sarcomeric myopathies associated with tremor: new insights and perspectives Janis Stavusis, Janelle Geist, Aikaterini Kontrogianni‐Konstantopoulos Journal of Muscle Research and Cell Motility MedicineParkinson DiseaseSarcomeric MyopathiesPathologyMotor Disorder	2019	11
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study Baiba Lāce, Sander Pajusalu, Diana Livcane, Frontiers in Genetics	2022	10

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