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Grace E VanNoy

Showing results (11-20 of 40) with videos related to

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Clinical Therapeutics|July 30, 2023
Advancing Understanding of Inequities in Rare Disease GenomicsJillian G Serrano, Melanie O'Leary, Grace E VanNoy, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
BMC Genomics|July 1, 2026
Variant-specific RNA testing resolves variants of uncertain significance in exome testingAudrey K O'Neill, Grace E VanNoy, Brooklynn Gasser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathyKatarzyna Ochenkowska, Bryce Rampal, Antoine Légaré, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Clinical Therapeutics|July 30, 2023
Advancing Understanding of Inequities in Rare Disease GenomicsJillian G Serrano, Melanie O'Leary, Grace E VanNoy, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
BMC Genomics|July 1, 2026
Variant-specific RNA testing resolves variants of uncertain significance in exome testingAudrey K O'Neill, Grace E VanNoy, Brooklynn Gasser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathyKatarzyna Ochenkowska, Bryce Rampal, Antoine Légaré, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.
Pageof 4