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Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Abou Jamra R, Rolfs A, Bertoli-Avella AM, van de Laar IMBH. Hollink IHIM, et al. Among authors: abou jamra r. J Hum Genet. 2018 Apr;63(4):539. doi: 10.1038/s10038-017-0373-z. Epub 2018 Mar 8. J Hum Genet. 2018. PMID: 29576627
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: abou jamra r. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E, Landgraf K, Stein R, Hanschkow M, Hilbert A, Abou Jamra R, Boczki P, Herberth G, Kühnapfel A, Tseng YH, Stäubert C, Schöneberg T, Kühnen P, Rayner NW, Zeggini E, Kiess W, Blüher M, Körner A. Kempf E, et al. Among authors: abou jamra r. Nat Metab. 2022 Dec;4(12):1697-1712. doi: 10.1038/s42255-022-00703-9. Epub 2022 Dec 19. Nat Metab. 2022. PMID: 36536132 Free PMC article.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: abou jamra r. Brain. 2024 Oct 3;147(10):3562-3572. doi: 10.1093/brain/awae085. Brain. 2024. PMID: 38489591
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: abou jamra r. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
A comprehensive global genotype-phenotype database for rare diseases.
Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A. Trujillano D, et al. Among authors: abou jamra r. Mol Genet Genomic Med. 2016 Nov 23;5(1):66-75. doi: 10.1002/mgg3.262. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116331 Free PMC article.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: abou jamra r. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S. de Brouwer APM, et al. Among authors: abou jamra r. Am J Hum Genet. 2018 Dec 6;103(6):1045-1052. doi: 10.1016/j.ajhg.2018.10.026. Am J Hum Genet. 2018. PMID: 30526862 Free PMC article.
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: abou jamra r. 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.
125 results