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Year | Number of Results |
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2022 | 2 |
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Cited In for PMID: 33090716
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Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.
Am J Med Genet A. 2020 Oct 8. doi: 10.1002/ajmg.a.61905. Online ahead of print.
Am J Med Genet A. 2020.
PMID: 33090716
Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids.
Duenser A, Singh P, Lecaudey LA, Sturmbauer C, Albertson RC, Gessl W, Ahi EP.
Duenser A, et al.
Genome Biol Evol. 2023 Apr 6;15(4):evad045. doi: 10.1093/gbe/evad045.
Genome Biol Evol. 2023.
PMID: 36930462
Free PMC article.
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A.
Mattison KA, et al.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
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ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.
Tian Y, Zhai QX, Li XJ, Shi Z, Cheng CF, Fan CX, Tang B, Zhang Y, He YY, Li WB, Luo S, Hou C, Chen WX, Liao WP, Wang J.
Tian Y, et al.
Front Mol Neurosci. 2022 May 6;15:889534. doi: 10.3389/fnmol.2022.889534. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 35600075
Free PMC article.
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Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X, Dai P, Yuan YY.
Gao X, et al.
Hum Genet. 2022 Apr;141(3-4):821-838. doi: 10.1007/s00439-021-02310-2. Epub 2021 Jul 7.
Hum Genet. 2022.
PMID: 34232384
Review.
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