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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007.
Am J Hum Genet. 2022.
PMID: 36055214
Free PMC article.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Bai R, Cui H, Devaney JM, Allis KM, Balog AM, Liu X, Schnur RE, Shapiro FL, Brautbar A, Estrada-Veras JI, Hochstetler L, McConkie-Rosell A, McDonald MT, Solomon BD, Hofherr S, Richard G, Suchy SF.
Bai R, et al. Among authors: allis km.
Genet Med. 2021 Aug;23(8):1514-1521. doi: 10.1038/s41436-021-01166-1. Epub 2021 Apr 12.
Genet Med. 2021.
PMID: 33846581
Free article.
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK.
Oates S, et al. Among authors: allis k.
Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16.
Clin Genet. 2021.
PMID: 34216016
Free article.
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Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ, Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM, Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J, Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll CJ, Cowan JA, Moreno-De-Luca A, Houlden H, Maroofian R.
Kaiyrzhanov R, et al. Among authors: allis k.
Ann Clin Transl Neurol. 2022 Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18.
Ann Clin Transl Neurol. 2022.
PMID: 36256512
Free PMC article.
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Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.
Carey AR, Miller NR, Cui H, Allis K, Balog A, Bai R, Vernon HJ.
Carey AR, et al. Among authors: allis k.
J Neuroophthalmol. 2024 Jun 1;44(2):247-252. doi: 10.1097/WNO.0000000000001984. Epub 2023 Sep 4.
J Neuroophthalmol. 2024.
PMID: 37665646
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Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD.
Dang Do AN, et al. Among authors: allis k.
J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3.
J Inherit Metab Dis. 2023.
PMID: 36719165
Free PMC article.
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A Broken Pathway: Understanding Congenital Adrenal Hyperplasia in the Newborn.
Allis K.
Allis K.
Neonatal Netw. 2021 Aug 1;40(5):286-294. doi: 10.1891/11-T-694.
Neonatal Netw. 2021.
PMID: 34518380
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