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Year Number of Results
1986 2
1987 1
1988 8
1989 5
1990 7
1991 4
1992 7
1993 5
1994 7
1995 7
1996 5
1997 7
1998 10
1999 7
2000 2
2001 2
2002 7
2003 4
2004 5
2005 1
2006 4
2007 5
2008 3
2009 2
2010 2
2011 2
2012 2
2013 2
2014 4
2015 8
2016 5
2017 2
2018 3
2019 3
2020 6
2021 7
2022 6
2023 3
2024 3
2025 3

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165 results

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Page 1
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: alembik y. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: alembik y. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: alembik y. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: alembik y. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Co-occurring anomalies in congenital oral clefts.
Stoll C, Alembik Y, Roth MP. Stoll C, et al. Among authors: alembik y. Am J Med Genet A. 2022 Jun;188(6):1700-1715. doi: 10.1002/ajmg.a.62689. Epub 2022 Feb 18. Am J Med Genet A. 2022. PMID: 35179301
Familial cylindromatosis.
Stoll C, Alembik Y, Wilk A, Grosshans E. Stoll C, et al. Among authors: alembik y. Genet Couns. 2004;15(2):175-82. Genet Couns. 2004. PMID: 15287417
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B; NF-France network; Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: alembik y. J Med Genet. 2025 Aug 28:jmg-2025-110783. doi: 10.1136/jmg-2025-110783. Online ahead of print. J Med Genet. 2025. PMID: 40759488 Free article.
Associated anomalies in cases with achondroplasia.
Stoll C, Alembik Y, Dott B, Roth MP. Stoll C, et al. Among authors: alembik y. Eur J Med Genet. 2022 Nov;65(11):104612. doi: 10.1016/j.ejmg.2022.104612. Epub 2022 Sep 20. Eur J Med Genet. 2022. PMID: 36150686
Associated anomalies in anophthalmia and microphthalmia.
Stoll C, Dott B, Alembik Y, Roth MP. Stoll C, et al. Among authors: alembik y. Eur J Med Genet. 2024 Feb;67:104892. doi: 10.1016/j.ejmg.2023.104892. Epub 2023 Dec 16. Eur J Med Genet. 2024. PMID: 38110175 Free article.
165 results