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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature. Issue 3 (1st December 2022) Authors: Couloigner, Loïc; Planes, Marc; Ka, Chandran; Audebert‐Bellanger, Séverine; Redon, Sylvia; Benech, Caroline; Rouault, Karen; Küry, Sebastien; Peudenier, Sylviane; Autret, Sandrine; Gourlaouen, Isabelle; Bonneau, Dominique; Odent, Sylvie; Bézieau, Stéphane; Gilbert‐Dussardier, Brigitte; Toutain, A... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy. Issue 9 (15th August 2020) Authors: Rodríguez‐Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Martínez, Juan José; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas, Carlos; Le Gac, Gérald; Fourcade, Stéphane; Pujol, Aurora Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 9(2020) Page Start: 1574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis. (19th May 2020) Authors: Prouzet‐Mauléon, Valérie; Montibus, Bertille; Chauveau, Aurélie; Hautin, Marie; Migeon, Marina; Ka, Chandran; Laharanne, Elodie; Bidet, Audrey; Corcos, Laurent; Lippert, Eric Journal: British journal of haematology Issue: Volume 190:Number 2(2020) Page Start: e104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of the second HFE gross deletion highlights the potential importance of Alu‐mediated recombination in haemochromatosis. (4th October 2014) Authors: Ka, Chandran; Chen, Jian‐Min; Gourlaouen, Isabelle; Quemener, Sylvia; Ronsin, Christophe; Massonnet, Simone; Thérond, Jean‐Paul; Férec, Claude; Le Gac, Gérald Journal: British journal of haematology Issue: Volume 168:Number 5(2015:Mar.) Page Start: 759 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. (8th April 2014) Authors: Callebaut, Isabelle; Joubrel, Rozenn; Pissard, Serge; Kannengiesser, Caroline; Gérolami, Victoria; Ged, Cécile; Cadet, Estelle; Cartault, François; Ka, Chandran; Gourlaouen, Isabelle; Gourhant, Lénaick; Oudin, Claire; Goossens, Michel; Grandchamp, Bernard; De Verneuil, Hubert; Rochette, Jacques; ... Journal: Human molecular genetics Issue: Volume 23:Number 17(2014:Sep. 01) Page Start: 4479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles. Issue 8 (11th December 2012) Authors: Fichou, Yann; Le Maréchal, Cédric; Jamet, Déborah; Bryckaert, Laurence; Ka, Chandran; Audrézet, Marie‐Pierre; Le Gac, Gérald; Dupont, Isabelle; Chen, Jian‐Min; Férec, Claude Journal: Transfusion Issue: Volume 53:Issue 8(2013) Page Start: 1821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗