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Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coeslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Article de revue

Eur J Hum Genet, 28 (10), p. 1422-1431, 2020, ISSN: 1018-4813.

Résumé | Liens:

Picher-Martel V, Labrie Y, Rivest S, Lace B, Chrestian N

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Article de revue

BMC Neurol, 20 (1), p. 58, 2020, ISSN: 1471-2377.

Résumé | Liens:

Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panades-de Oliveira L, Dominguez-Gonzalez C, Inashkina I, Kidere D, Chrestian N, Lace B

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

Article de revue

Neuromuscul Disord, 30 (6), p. 483-491, 2020, ISSN: 0960-8966.

Résumé | Liens:

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM

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

Article de revue

Am J Hum Genet, 105 (2), p. 384-394, 2019, ISSN: 0002-9297.

Résumé | Liens:

Stavusis J, Lace B, Schafer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bonnemann CG

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

Article de revue

Ann Neurol, 86 (1), p. 129-142, 2019, ISSN: 0364-5134.

Résumé | Liens:

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Levesque S, Maranda B

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.

Article de revue

Mol Genet Genomic Med, 7 (12), p. e1000, 2019.

Résumé | Liens:

Puisac B, Marcos-Alcalde I, Hernandez-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gomez-Puertas P, Pie J

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Article de revue

Int J Mol Sci, 19 (4), 2018.

Résumé | Liens:

Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.

Article de revue

Mitochondrial DNA A DNA Mapp Seq Anal, 29 (7), p. 1115-1120, 2018, ISSN: 2470-1394.

Résumé | Liens:

Krumina A, Pliss L, Zarina G, Puzuka A, Zarina A, Lace B, Elferts D, Khrunin A, Limborska S, Klovins J, Gailite L

Population genetics of Latvians in the context of admixture between north-eastern European ethnic groups

Article de revue

Proc Latv Acad Sci B Nat Exact Appl Sci, 72 (3), p. 131-151, 2018, ISSN: 1407-009X.

| Liens:

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Article de revue

Sci Rep, 7 (1), p. 7512, 2017, ISSN: 2045-2322.

Résumé | Liens:

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