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Mondor Institute of Biomedical Research: Créteil, FR

Postdoc researcher
Employment
Source: Self-asserted source
Janis Stavusis

Works (19)

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease

Medicina
2024-01-05 | Journal article
DOI: 10.3390/medicina60010099
Contributors: Janis Stavusis; Ieva Micule; Ieva Grinfelde; Anna Zdanovica; Janis Pudulis; Sandra Valeina; Svetlana Sepetiene; Baiba Lace; Inna Inashkina
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Crossref
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Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling.

Current issues in molecular biology
2023-02-22 | Journal article
DOI: 10.3390/cimb45030115
PMID: 36975485
PMC: PMC10047405
Contributors: Kidere D; Pawel Zayakin; Livcane D; Makrecka-Kuka M; Stavusis J; Lace B; Tsu-Kung Lin; Chia-Wei Liou; Inashkina I
Source: Self-asserted source
Janis Stavusis

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.

Human mutation
2022-06-22 | Journal article | Author
DOI: 10.1002/humu.24421
PMID: 35731190
Contributors: Magdalena Mroczek; Inna Inashkina; Janis Stavusis; Pawel Zayakin; Andrey Khrunin; Micule I; Kenina V; Zdanovica A; Jana Zídková; Lenka Fajkusová et al.
Source: Self-asserted source
Janis Stavusis
grade
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Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Neurology. Genetics
2022-05-16 | Journal article
DOI: 10.1212/nxg.0000000000000685
PMID: 36381256
PMC: PMC9641966
Contributors: Baiba Lace; Micule I; Kenina V; Setlere S; Strautmanis J; Kazaine I; Taurina G; Murmane D; Grinfelde I; Kornejeva L et al.
Source: Self-asserted source
Janis Stavusis

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.

Frontiers in genetics
2022-02-24 | Journal article
DOI: 10.3389/fgene.2022.828534
PMID: 35281813
PMC: PMC8907258
Contributors: Baiba Lace; Pajusalu S; Livcane D; Grinfelde I; Akota I; Mauliņa I; Barkāne B; Stavusis J; Inashkina I
Source: Self-asserted source
Janis Stavusis

Case Report: Two Families With <i>HPDL</i> Related Neurodegeneration.

Frontiers in genetics
2022-02-09 | Journal article
DOI: 10.3389/fgene.2022.780764
PMID: 35222531
PMC: PMC8864118
Contributors: Micule I; Baiba Lace; Nathan Wright; Chrestian N; Strautmanis J; Diriks M; Stavusis J; Kidere D; Kleina E; Zdanovica A et al.
Source: Self-asserted source
Janis Stavusis

Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.

JCI insight
2021-10-08 | Journal article | Author
DOI: 10.1172/jci.insight.147612
PMID: 34437302
PMC: PMC8525646
Contributors: Geist Hauserman J; Janis Stavusis; Joca HC; Joel Robinett; Hanft L; Vandermeulen J; Runchen Zhao; Joseph Stains; Konstantopoulos K; McDonald KS et al.
Source: Self-asserted source
Janis Stavusis
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The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants.

The American journal of case reports
2020-07-31 | Journal article
DOI: 10.12659/ajcr.922468
PMID: 32794475
PMC: PMC7414826
Contributors: Malniece I; Grasmane A; Inashkina I; Stavusis J; Kreile M; Miklasevics E; Gailite L
Source: Self-asserted source
Janis Stavusis

Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.

Neuromuscular disorders : NMD
2020-04-18 | Journal article
DOI: 10.1016/j.nmd.2020.03.010
PMID: 32448721
Contributors: Stavusis J; Micule I; Nathan Wright; Straub V; Topf A; Luísa Panadés-de Oliveira; Domínguez-González C; Inashkina I; Kidere D; Chrestian N et al.
Source: Self-asserted source
Janis Stavusis

Sarcomeric myopathies associated with tremor: new insights and perspectives.

Journal of muscle research and cell motility
2019-10-16 | Journal article
DOI: 10.1007/s10974-019-09559-1
PMID: 31620961
PMC: PMC7160001
Contributors: Stavusis J; Geist J; Aikaterini Kontrogianni-Konstantopoulos
Source: Self-asserted source
Janis Stavusis

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

American journal of human genetics
2019-06-27 | Journal article
DOI: 10.1016/j.ajhg.2019.05.019
PMID: 31256876
PMC: PMC6698938
Contributors: Yoshiko Murakami; Nguyen TTM; Baratang N; Raju PK; Knaus A; Ellard S; Jones G; Baiba Lace; Justine Rousseau; Ajeawung NF et al.
Source: Self-asserted source
Janis Stavusis

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Annals of neurology
2019-05-17 | Journal article | Author
DOI: 10.1002/ana.25494
PMID: 31025394
PMC: PMC6685440
Contributors: Janis Stavusis; Baiba Lace; Schäfer J; Geist J; Inna Inashkina; Kidere D; Sander Pajusalu; Nathan Wright; Saak A; Weinhold M et al.
Source: Self-asserted source
Janis Stavusis
grade
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Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.

Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis
2017-12-12 | Journal article
DOI: 10.1080/24701394.2017.1413365
PMID: 29228836
Contributors: Dita Kidere; Burnyte B; Jankevics E; Baiba Lace; Dagyte E; Grigalioniene K; Utkus A; Krumina Z; Rozentale J; Adomaitiene I et al.
Source: Self-asserted source
Janis Stavusis

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

BMC musculoskeletal disorders
2016-05-04 | Journal article
DOI: 10.1186/s12891-016-1058-z
PMID: 27142102
PMC: PMC4855345
Contributors: Inna Inashkina; Jankevics E; Stavusis J; Vasiljeva I; Viksne K; Micule I; Strautmanis J; Naudina MS; Cimbalistiene L; Kucinskas V et al.
Source: Self-asserted source
Janis Stavusis

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

American journal of human genetics
2016-03-24 | Journal article
DOI: 10.1016/j.ajhg.2016.02.013
PMID: 27018475
PMC: PMC4833214
Contributors: Mangold E; Böhmer AC; Ishorst N; Hoebel AK; Gültepe P; Schuenke H; Klamt J; Hofmann A; Gölz L; Raff R et al.
Source: Self-asserted source
Janis Stavusis

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.

Human heredity
2016-01-01 | Journal article | Author
DOI: 10.1159/000481434
PMID: 29131013
Contributors: Janis Stavusis; Inna Inashkina; Baiba Lace; Pelnena D; Limborska S; Khrunin A; Kucinskas V; Krumina A; Piekuse L; Zorn B et al.
Source: Self-asserted source
Janis Stavusis
grade
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Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

Stomatologija
2014-01-01 | Journal article
PMID: 25471993
Contributors: Kempa I; Laima Ambrozaityte; Stavusis J; Akota I; Barkane B; Krumina A; Matulevičienė A; Utkus A; Kučinskas V; Lace B
Source: Self-asserted source
Janis Stavusis

Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.

Case reports in neurological medicine
2013-08-19 | Journal article
DOI: 10.1155/2013/254950
PMID: 24024053
PMC: PMC3760302
Contributors: Lace B; Inna Inashkina; Micule I; Vasiljeva I; Naudina MS; Strautmanis J; Stavusis J; Jankevics E
Source: Self-asserted source
Janis Stavusis

BCL3 gene role in facial morphology.

Birth defects research. Part A, Clinical and molecular teratology
2012-11-01 | Journal article
DOI: 10.1002/bdra.23085
PMID: 23115114
Contributors: Baiba Lace; Inga Kempa; Janis Klovins; Stavusis J; Krumina A; Akota I; Barkane B; Vieira AR; Nagle E; Grinfelde I et al.
Source: Self-asserted source
Janis Stavusis
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