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Page 1
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: heide s. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Chérot E, et al. Among authors: heide s. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F. Heide S, et al. J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9. J Med Genet. 2018. PMID: 29223973
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: heide s. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: heide s. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Ader F, Heide S, Marzin P, Afenjar A, Diguet F, Chantot Bastaraud S, Rollat-Farnier PA, Sanlaville D, Portnoï MF, Siffroi JP, Schluth-Bolard C. Ader F, et al. Among authors: heide s. Eur J Med Genet. 2020 Apr;63(4):103776. doi: 10.1016/j.ejmg.2019.103776. Epub 2019 Sep 25. Eur J Med Genet. 2020. PMID: 31562959
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. Chilton I, et al. Among authors: heide s. Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7. Am J Med Genet A. 2020. PMID: 32031333
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau AC, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel AL, Mau-Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L. Garde A, et al. Among authors: heide s. Clin Genet. 2021 Mar;99(3):407-417. doi: 10.1111/cge.13894. Epub 2020 Dec 15. Clin Genet. 2021. PMID: 33277917
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: heide s. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
245 results