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Amanda Thomas

Showing results (51-60 of 65) with videos related to

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Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Circulation|January 22, 2026
Association of Pre-Fontan Hemodynamics With Long-Term Outcomes After Fontan Palliation: A Study From the Pediatric Cardiac Care ConsortiumDivya Suthar, Yanxu Yang, Asaad G Beshish, et al.
American Journal of Medical Genetics. Part A|December 23, 2022
Detection of mosaic variants using genome sequencing in a large pediatric cohortJacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.
The Lancet. Gastroenterology & Hepatology|March 3, 2019
Predictors of anti-TNF treatment failure in anti-TNF-naive patients with active luminal Crohn's disease: a prospective, multicentre, cohort studyNicholas A Kennedy, Graham A Heap, Harry D Green, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.
Clinical Genetics|June 19, 2023
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programKatherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, et al.
American Heart Journal|September 19, 2024
Rationale and design of CHD PULSE: Congenital Heart Disease Project to Understand Lifelong Survivor ExperienceMatthew E Oster, Yanxu Yang, Caroline Shi, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Pageof 7

Showing results (51-60 of 65) with videos related to

Sort By:
Pageof 7
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Circulation|January 22, 2026
Association of Pre-Fontan Hemodynamics With Long-Term Outcomes After Fontan Palliation: A Study From the Pediatric Cardiac Care ConsortiumDivya Suthar, Yanxu Yang, Asaad G Beshish, et al.
American Journal of Medical Genetics. Part A|December 23, 2022
Detection of mosaic variants using genome sequencing in a large pediatric cohortJacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.
The Lancet. Gastroenterology & Hepatology|March 3, 2019
Predictors of anti-TNF treatment failure in anti-TNF-naive patients with active luminal Crohn's disease: a prospective, multicentre, cohort studyNicholas A Kennedy, Graham A Heap, Harry D Green, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.
Clinical Genetics|June 19, 2023
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programKatherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, et al.
American Heart Journal|September 19, 2024
Rationale and design of CHD PULSE: Congenital Heart Disease Project to Understand Lifelong Survivor ExperienceMatthew E Oster, Yanxu Yang, Caroline Shi, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Pageof 7