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1.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Ann Neurol
; 94(4): 696-712, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37255483
2.
Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.
Int J Mol Sci
; 23(11)2022 Jun 02.
Article
in English
| MEDLINE | ID: mdl-35682905
3.
AnthOligo: automating the design of oligonucleotides for capture/enrichment technologies.
Bioinformatics
; 36(15): 4353-4356, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32484858
4.
Variability in retinoblastoma genome stability is driven by age and not heritability.
Genes Chromosomes Cancer
; 59(10): 584-590, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32390242
5.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906214
6.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29917077
7.
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
Hum Mutat
; 39(6): 806-810, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29539190
8.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Article
in English
| MEDLINE | ID: mdl-25892112
9.
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Hum Mol Genet
; 24(1): 230-42, 2015 Jan 01.
Article
in English
| MEDLINE | ID: mdl-25168386
10.
Implementation of a Streamlined SARS-CoV-2 Whole-Genome Sequencing Assay for Expeditious Surveillance during the Emergence of the Omicron Variant.
J Clin Microbiol
; 60(4): e0256921, 2022 04 20.
Article
in English
| MEDLINE | ID: mdl-35317603
11.
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genet Med
; 19(6): 643-651, 2017 06.
Article
in English
| MEDLINE | ID: mdl-27735924
12.
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Am J Med Genet A
; 173(5): 1390-1395, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28371217
13.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Hum Mutat
; 37(6): 540-548, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26919060
14.
The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity.
BMC Genomics
; 17: 486, 2016 07 09.
Article
in English
| MEDLINE | ID: mdl-27393338
15.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Am J Hum Genet
; 93(3): 482-95, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-23993194
16.
Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.
Gastroenterology
; 149(7): 1872-1883.e9, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26344056
17.
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.
Bioinformatics
; 31(8): 1310-2, 2015 Apr 15.
Article
in English
| MEDLINE | ID: mdl-25505086
18.
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
RNA Biol
; 13(5): 477-85, 2016 05 03.
Article
in English
| MEDLINE | ID: mdl-26950678
19.
Incontinence medication response relates to the female urinary microbiota.
Int Urogynecol J
; 27(5): 723-33, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26423260
20.
Whose Data, Whose Risk? Omics Privacy Concerns Should be Defined by Individuals, not Researchers.
Am J Bioeth
; 21(12): 67-70, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34806958