List of Publications
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
Genetics in Medicine. 2021 Mar;23(3):479–87.
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Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
Pennamen P, Tingaud‐Sequeira A, Michaud V, Morice‐Picard F, Plaisant C, Vincent‐Delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B
Pigment Cell & Melanoma Research. 2021 Jan 3;34(1):132–5
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Re-focusing on Agnathia-Otocephaly complex
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J
Clinical Oral Investigations. 2021 Mar 9;25(3):1353–62.
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Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
Chirita-Emandi A, Andreescu N, Popa C, Mihailescu A, Riza A-L, Plesea R, Ioana M, Arghirescu S, Puiu M
Journal of medical genetics. 2021;58(9):648–52.
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Costello syndrome: Clinical phenotype, genotype, and management guidelines
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA.
American Journal of Medical Genetics Part A. 2019 Sep;179(9):1725–44
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Clinical aspects of a large group of adults with Angelman syndrome
Besten I, Jong RF, Geerts‐Haages A, Bruggenwirth HT, Koopmans M, Brooks A, Elgersma Y, Festen DAM, Valstar MJ
American Journal of Medical Genetics Part A. 2021 Jan 27;185(1):168–81
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Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents
van Remmerden MC, Hoogland L, Mous SE, Dierckx B, Coesmans M, Moll HA, Lubbers K, Lincken CR, van Eeghen AM
Journal of Autism and Developmental Disorders. 2020 Jun 16;50(6):2174–87
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De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, de Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière J-B, Thauvin-Robinet C, Betschinger J, Faivre L
Journal of medical genetics. 2020;57(12):808–19.
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
Cappuccio G, Sayou C, Tanno P le, Tisserant E, Bruel A-L, Kennani S el, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, Telethon Undiagnosed Diseases Program, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N
Genetics in medicine : official journal of the American College of Medical Genetics. 2020;22(11):1838–50.
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, de Saint Martin A, el Chehadeh S, Chelly J, Poisson A, Lebre A-S, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R
Epilepsia. 2020;61(11):2461–73.