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Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Hunter JM, et al. Among authors: manickam k. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006180. doi: 10.1101/mcs.a006180. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091509 Free PMC article.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G. Morgan A, et al. Among authors: manickam k. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1. Hum Mutat. 2019. PMID: 31397523
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Marafi D, et al. Among authors: manickam k. Ann Clin Transl Neurol. 2020 May;7(5):610-627. doi: 10.1002/acn3.51003. Epub 2020 Apr 14. Ann Clin Transl Neurol. 2020. PMID: 32286009 Free PMC article.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
Bedoyan JK, Hage R, Shin HK, Linard S, Ferren E, Ducich N, Wilson K, Lehman A, Schillaci LA, Manickam K, Mori M, Bartholomew D, DeBrosse S, Cohen B, Parikh S, Kerr D. Bedoyan JK, et al. Among authors: manickam k. JIMD Rep. 2020 Aug 16;56(1):70-81. doi: 10.1002/jmd2.12153. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204598 Free PMC article.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Manickam K, et al. Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1. Genet Med. 2021. PMID: 34211152 Free article.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. Okur V, et al. Among authors: manickam k. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. NPJ Genom Med. 2021. PMID: 34876591 Free PMC article.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Yang JH, et al. Among authors: manickam k. Hum Mutat. 2022 Mar;43(3):305-315. doi: 10.1002/humu.24330. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 35026043 Free PMC article.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K. Kuroda Y, et al. Among authors: manickam k. Genet Med. 2023 Jul;25(7):100861. doi: 10.1016/j.gim.2023.100861. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37087635
95 results