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Page 1
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: isidor b. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, Narayanan V, Jones JR, Prijoles EJ, Mitchell WG, Ozmore JR, Juliette K, Torti E, Normand EA, Granger L, Petersen AK, Au MG, Matheny JP, Phornphutkul C, Chambers MK, Fernández-Ramos JA, López-Laso E, Kruer MC, Bakhtiari S, Zollino M, Morleo M, Marangi G, Mei D, Pisano T, Guerrini R, Louie RJ, Childers A, Everman DB, Isidor B, Audebert-Bellanger S, Odent S, Bonneau D, Gilbert-Dussardier B, Redon R, Bézieau S, Laumonnier F, Stoeckli ET, Toutain A, Vuillaume ML. Cordovado A, et al. Among authors: isidor b. Hum Mol Genet. 2022 Sep 29;31(19):3325-3340. doi: 10.1093/hmg/ddac114. Hum Mol Genet. 2022. PMID: 35604360 Free PMC article.
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK. Rossi A, et al. Among authors: isidor b. Neurology. 2025 Jul 22;105(2):e213644. doi: 10.1212/WNL.0000000000213644. Epub 2025 Jun 26. Neurology. 2025. PMID: 40570274 Free PMC article.
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, Blanc P, Bruno LP, Callewaert B, Capra V, Carullo M, Chesneau B, Coppens S, Curry C, Dale B, Dahlen E, Delahaye-Duriez A, Denommé-Pichon AS, Demeer B, Dvořáková L, Fischer J, Geneviève D, Giacomini T, Handrup MM, Heron D, Hüning I, Iacomino M, Isidor B, Keren B, Kmoch S, Koolen DA, Kübler A, Laštůvková J, Le C, Levy J, Rizzo CL, Maitz S, Marlin S, Mignot C, Mirzaa G, Nagel I, Neuens S, Nosková L, Pao E, Pecková A, Plaisancie J, Porrmann J, Privitera F, Reis A, Renieri A, Rio M, Rippert A, Ryba L, Scala M, Schieving JH, Sherr EH, Shuen A, Sidlow R, Smol T, Soblet J, Striano P, Suri M, Syryn H, Tran Mau-Them F, Travessa AM, Van Gils J, Vasileiou G, Verseput JJA, Vilain C, Vincent-Delorme C, Vyhnálková E, Wakeling EL, Zacher P, Zara F, Kuentz P, Piard J. Engel C, et al. Among authors: isidor b. Eur J Hum Genet. 2025 Jun 25. doi: 10.1038/s41431-025-01884-z. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40562808
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
Woods E, Holmes N, Denommé-Pichon AS, Vincent M, Belova N, Gooch C, Isidor B, Ockeloen CW, Pavlidou E, Stewart H, Verhoeven VJM, Ververi A, Dixit A, Sarkar A, Legg R, Reid E, Balasubramanian M. Woods E, et al. Among authors: isidor b. Am J Med Genet A. 2025 Jun 24:e64157. doi: 10.1002/ajmg.a.64157. Online ahead of print. Am J Med Genet A. 2025. PMID: 40552904
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Palmyre A, Koraichi F, Ader F, Donal E, Bordet C, de Groote P, Faivre L, Reant P, Toutain A, Nguyen K, Isidor B, Brehin AC, Legrand L, Gandjbakhch E, Proukhnitzky J, Isnard R, Mansencal N, Pruny JF, Rabes JP, Francou B, Caillaud C, Richard P, Charron P. Palmyre A, et al. Among authors: isidor b. Orphanet J Rare Dis. 2025 Jun 10;20(1):294. doi: 10.1186/s13023-025-03815-z. Orphanet J Rare Dis. 2025. PMID: 40495216 Free PMC article.
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.
Pierret C, Riccardi F, Neveu J, Alesandrini M, Altuzarra C, Boulogne S, Carneiro M, Chatron N, Isidor B, Lacan L, Lesca G, Nguyen S, Rodriguez D, Souci S, Valence S, Villard L, Milh M, Desnous B. Pierret C, et al. Among authors: isidor b. Epilepsia. 2025 Jun 9. doi: 10.1111/epi.18495. Online ahead of print. Epilepsia. 2025. PMID: 40488543
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
van Oirsouw ASE, Hadders MA, Koetsier M, Peters EDJ, Assia Batzir N, Barakat TS, Baralle D, Beil A, Bonnet-Dupeyron MN, Boone PM, Bouman A, Carere DA, Cogne B, Dunnington L, Farach LS, Genetti CA, Isidor B, Januel L, Joshi A, Lahiri N, Lee KN, Maya I, McEntagart M, Northrup H, Pujalte M, Richardson K, Walker S, Koeleman BPC, Alders M, van Jaarsveld RH, Oegema R. van Oirsouw ASE, et al. Among authors: isidor b. Hum Mol Genet. 2025 May 27:ddaf082. doi: 10.1093/hmg/ddaf082. Online ahead of print. Hum Mol Genet. 2025. PMID: 40420380
391 results