SM-Youtube

Year	Number of Results
2017	2
2018	1
2019	1
2020	1
2021	3
2023	1
2024	0

1

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.

Webb BD, Nowinski SM, Solmonson A, Ganesh J, Rodenburg RJ, Leandro J, Evans A, Vu HS, Naidich TP, Gelb BD, DeBerardinis RJ, Rutter J, Houten SM. Webb BD, et al. Elife. 2023 Mar 7;12:e68047. doi: 10.7554/eLife.68047. Elife. 2023. PMID: 36881526 Free PMC article.

2

Mitochondrial translation defects and human disease.

Webb BD, Diaz GA, Prasun P. Webb BD, et al. J Transl Genet Genom. 2020;4:71-80. doi: 10.20517/jtgg.2020.11. Epub 2020 May 23. J Transl Genet Genom. 2020. PMID: 33426504 Free PMC article.

3

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Bruni F, et al. Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7. Hum Mutat. 2018. PMID: 29314548 Free PMC article.

4

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.

Morrison J, Altuwaijri NK, Brønstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T. Morrison J, et al. Genet Med. 2021 Nov;23(11):2213-2218. doi: 10.1038/s41436-021-01264-0. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230638 Free PMC article.

5

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

Webb BD, Hotchkiss H, Prasun P, Gelb BD, Satlin L. Webb BD, et al. Eur J Hum Genet. 2021 Oct;29(10):1566-1569. doi: 10.1038/s41431-021-00883-0. Epub 2021 Apr 12. Eur J Hum Genet. 2021. PMID: 33840812 Free PMC article.

6

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.

Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE. Webb BD, et al. Hum Mutat. 2021 Jun;42(6):685-693. doi: 10.1002/humu.24201. Epub 2021 Apr 15. Hum Mutat. 2021. PMID: 33783914 Free PMC article.

7

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE. Webb BD, et al. Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28054444 Free PMC article.

8

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.

9

Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".

Prasun P, Mintz C, Cork E, Naidich TP, Webb BD. Prasun P, et al. J Neurol Sci. 2019 Nov 15;406:116448. doi: 10.1016/j.jns.2019.116448. Epub 2019 Sep 3. J Neurol Sci. 2019. PMID: 31520968 Free PMC article. No abstract available.

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