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Author/Creator Le Gac, Gerald

1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022)

Authors:
Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour...
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
996
Record Type:
Journal Article
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3. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. Issue 10 (11th March 2020)

Authors:
Martinez, Guillaume; Beurois, Julie; Dacheux, Denis; Cazin, Caroline; Bidart, Marie; Kherraf, Zine-Eddine; Robinson, Derrick R; Satre, Véronique; Le Gac, Gerald; Ka, Chandran; Gourlaouen, Isabelle; Fichou, Yann; Petre, Graciane; Dulioust, Emmanuel; Zouari, Raoudha; Thierry-Mieg, Nicolas; Touré, A...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 10(2020)
Page Start:
708
Record Type:
Journal Article
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4. Diagnostic value of targeted next‐generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele. Issue 12 (23rd October 2017)

Authors:
Uguen, Kevin; Scotet, Virginie; Ka, Chandran; Gourlaouen, Isabelle; L'hostis, Carine; Merour, Marie‐Christine; Cuppens, Tania; Ferec, Claude; Le Gac, Gerald
Journal:
American journal of hematology
Issue:
Volume 92:Issue 12(2017:Dec.)
Page Start:
E664
Record Type:
Journal Article
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5. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts. Issue 10 (24th June 2019)

Authors:
Lin, Jin‐Huan; Tang, Xin‐Ying; Boulling, Arnaud; Zou, Wen‐Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlène; Deng, Shun‐Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphaël; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao‐Shen; ...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1856
Record Type:
Journal Article
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