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Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M. Alpaslan M, et al. Among authors: repetto gm. Hum Mol Genet. 2024 Apr 26:ddae060. doi: 10.1093/hmg/ddae060. Online ahead of print. Hum Mol Genet. 2024. PMID: 38676400
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. Among authors: repetto gm. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia. Guo T, et al. Among authors: repetto gm. Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028. Hum Mol Genet. 2018. PMID: 29361080 Free PMC article.
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Grimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, Scurr I, Varghese V, Low KJ. Grimes H, et al. Among authors: repetto gm. Am J Med Genet A. 2023 Oct;191(10):2610-2622. doi: 10.1002/ajmg.a.63313. Epub 2023 Jun 11. Am J Med Genet A. 2023. PMID: 37303278
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Zhao Y, et al. Among authors: repetto gm. Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. Am J Hum Genet. 2020. PMID: 31870554 Free PMC article.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Poli MC, et al. Among authors: repetto gm. Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38177409
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: repetto gm. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965848 Free PMC article. Retracted.
71 results