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Gabor Marth

Showing results (11-20 of 31) with videos related to

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Genome Medicine|July 16, 2020
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketchesBrent S Pedersen, Preetida J Bhetariya, Joe Brown, et al.
Plos Pathogens|June 20, 2014
Forward genetic screening identifies a small molecule that blocks Toxoplasma gondii growth by inhibiting both host- and parasite-encoded kinasesKevin M Brown, Elena Suvorova, Andrew Farrell, et al.
HGG Advances|December 2, 2020
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic herniasEric L Bogenschutz, Zac D Fox, Andrew Farrell, et al.
Medrxiv : the Preprint Server for Health Sciences|November 11, 2020
gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationTonya Di Sera, Matt Velinder, Alistair Ward, et al.
Scientific Reports|October 14, 2021
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationTonya Di Sera, Matt Velinder, Alistair Ward, et al.
Journal of Medical Genetics|September 24, 2018
Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic TelangiectasiaWhitney L Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, et al.
Scientific Reports|April 7, 2022
Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationTonya Di Sera, Matt Velinder, Alistair Ward, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 28, 2002
Sequence variations in the public human genome data reflect a bottlenecked population historyGabor Marth, Greg Schuler, Raymond Yeh, et al.
JAMA Otolaryngology-- Head & Neck Surgery|June 17, 2016
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing LossChristina L Runge, Amit Indap, Yifan Zhou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2019
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?Whitney L Wooderchak-Donahue, Gulsen Akay, Kevin Whitehead, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Genome Medicine|July 16, 2020
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketchesBrent S Pedersen, Preetida J Bhetariya, Joe Brown, et al.
Plos Pathogens|June 20, 2014
Forward genetic screening identifies a small molecule that blocks Toxoplasma gondii growth by inhibiting both host- and parasite-encoded kinasesKevin M Brown, Elena Suvorova, Andrew Farrell, et al.
HGG Advances|December 2, 2020
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic herniasEric L Bogenschutz, Zac D Fox, Andrew Farrell, et al.
Medrxiv : the Preprint Server for Health Sciences|November 11, 2020
gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationTonya Di Sera, Matt Velinder, Alistair Ward, et al.
Scientific Reports|October 14, 2021
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationTonya Di Sera, Matt Velinder, Alistair Ward, et al.
Journal of Medical Genetics|September 24, 2018
Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic TelangiectasiaWhitney L Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, et al.
Scientific Reports|April 7, 2022
Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationTonya Di Sera, Matt Velinder, Alistair Ward, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 28, 2002
Sequence variations in the public human genome data reflect a bottlenecked population historyGabor Marth, Greg Schuler, Raymond Yeh, et al.
JAMA Otolaryngology-- Head & Neck Surgery|June 17, 2016
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing LossChristina L Runge, Amit Indap, Yifan Zhou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2019
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?Whitney L Wooderchak-Donahue, Gulsen Akay, Kevin Whitehead, et al.
Pageof 4