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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: goel h. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Van De Weghe JC, et al. Among authors: goel h. Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15. Am J Hum Genet. 2017. PMID: 28625504 Free PMC article.
NMNAT1 variants cause cone and cone-rod dystrophy.
Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. Nash BM, et al. Among authors: goel h. Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184169 Free PMC article.
Expansion of phenotype of DDX3X syndrome: six new cases.
Beal B, Hayes I, McGaughran J, Amor DJ, Miteff C, Jackson V, van Reyk O, Subramanian G, Hildebrand MS, Morgan AT, Goel H. Beal B, et al. Among authors: goel h. Clin Dysmorphol. 2019 Oct;28(4):169-174. doi: 10.1097/MCD.0000000000000289. Clin Dysmorphol. 2019. PMID: 31274575
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, Braden R, Vogel A, Thompson-Lake D, Patel C, Blair E, Goel H, Turner S, Moog U, Riess A, Liegeois F, Koolen DA, Amor DJ, Kleefstra T, Fisher SE, Zweier C, Morgan AT. Morison LD, et al. Among authors: goel h. J Med Genet. 2023 Jun;60(6):597-607. doi: 10.1136/jmg-2022-108734. Epub 2022 Nov 3. J Med Genet. 2023. PMID: 36328423 Free PMC article.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: goel h, goel a. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Morison LD, Kennis MGP, Rots D, Bouman A, Kummeling J, Palmer E, Vogel AP, Liegeois F, Brignell A, Srivastava S, Frazier Z, Milnes D, Goel H, Amor DJ, Scheffer IE, Kleefstra T, Morgan AT. Morison LD, et al. Among authors: goel h. J Med Genet. 2024 Jan 30:jmg-2023-109702. doi: 10.1136/jmg-2023-109702. Online ahead of print. J Med Genet. 2024. PMID: 38290825
334 results