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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 8
1995 3
1996 5
1997 2
1998 2
1999 2
2000 6
2001 4
2002 1
2003 4
2004 4
2005 2
2006 3
2007 6
2008 6
2009 6
2010 8
2011 7
2012 9
2013 13
2014 14
2015 20
2016 7
2017 10
2018 7
2019 18
2020 13
2021 7
2022 6
2023 9
2024 12
2025 4
2026 3

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198 results

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Page 1
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: edery p. 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
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. Benoit-Pilven C, et al. Among authors: edery p. PLoS One. 2020 Jul 6;15(7):e0235655. doi: 10.1371/journal.pone.0235655. eCollection 2020. PLoS One. 2020. PMID: 32628740 Free PMC article.
Germline mutations in a G protein identify signaling cross-talk in T cells.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Ham H, et al. Among authors: edery p. Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947. Epub 2024 Sep 20. Science. 2024. PMID: 39298586 Free PMC article.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network. Bubien V, et al. Among authors: edery p. J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335809 Free article.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study; Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. Reijnders MRF, et al. Among authors: edery p. Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861108 Free PMC article.
[New chromosomal syndromes].
Schluth-Bolard C, Till M, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: edery p. Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Pathol Biol (Paris). 2008. PMID: 18467039 Review. French.
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
Guguin J, Chen TY, Cuinat S, Besson A, Bertiaux E, Boutaud L, Ardito N, Imaz Murguiondo M, Cabet S, Hamel V, Thomas S, Pain B, Edery P, Putoux A, Tang TK, Mazoyer S, Delous M. Guguin J, et al. Among authors: edery p. PLoS Genet. 2024 Dec 16;20(12):e1011517. doi: 10.1371/journal.pgen.1011517. eCollection 2024 Dec. PLoS Genet. 2024. PMID: 39680576 Free PMC article.
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Cuinat S, Cormier-Daire V, Rosain J, Huber C, Ferriere E, Fournier B, Cheminant M, Castelle M, Bastard P, Noel N, Bourdic K, Picard C, Moshous D, Courteille V, Mahlaoui N, Bustamante J, Collobert G, Mignot C, Keren B, Drunat S, Rondeau S, Rabec A, Besson A, Chatron N, Lesca G, Laurent A, Mortreux J, Dancer MS, Dejeans G, Poggi C, Stoeva R, Lecordier A, Poirsier C, Dieux A, Sarrot-Reynauld F, Laudier B, Le Besnerais M, Guerrot AM, Nizon M, Cogne B, Isidor B, Julia S, Bouri S, Fusaro M, Willems M, Elenga N, Remadji Dobian S, Diop M, Pacaud S, Dichamp C, Sarrazin E, Lasa-Aranzasti A, Tizzano EF, Cuscó Martí I, Martín-Nalda A, Felipe-Rucián A, Gómez-Andres D, Codina-Solà M, Fernandez P, Riviere JG, Soler-Palacín P, Fernández-Jaén A, Carrión-Mera T, Borgmann I, Johnsen C, Schlotawa L, Kettwig M, Hoffmann J, Lex C, Speckmann C, von Hardenberg S, Wetzke M, Paul VG, Vockel M, Horvath J, Busche A, Hirschberger N, Shoukier M, Filges I, De Geyter J, Barakat TS, Borg I, Kłosowska A, Głuszkiewicz L, Allen S, Cilliers D, Foley PA, Lynch SA, McDonnell C, Sansović I, Odak L, Vulin K, Jensen JM, Pedersen IS, Ernst A, Taşdelen E, Kılıç M, Kılıç E, Altunoğlu U, Tatlı B, Akman B, Yıldırım RN, Gürsoy … See abstract for full author list ➔ Cuinat S, et al. Among authors: edery p. Genet Med. 2026 Jun 19:102632. doi: 10.1016/j.gim.2026.102632. Online ahead of print. Genet Med. 2026. PMID: 42322192 Free article.
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C. Thomas H, et al. Among authors: edery p. J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. J Med Genet. 2024. PMID: 38937076 Free article.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: edery p. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
198 results