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Isabelle Thiffault

Showing results (71-80 of 139) with videos related to

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Genome Medicine|October 1, 2015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseasesNeil A Miller, Emily G Farrow, Margaret Gibson, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
EMBO Molecular Medicine|November 17, 2020
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signalingMichaela Bosakova, Sara P Abraham, Alexandru Nita, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
JAMA Pediatrics|September 22, 2025
Clinical Long-Read Sequencing Test for Genetic Disease DiagnosisIsabelle Thiffault, Emily Farrow, Cassandra Barrett, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Pageof 14

Showing results (71-80 of 139) with videos related to

Sort By:
Pageof 14
Genome Medicine|October 1, 2015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseasesNeil A Miller, Emily G Farrow, Margaret Gibson, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
EMBO Molecular Medicine|November 17, 2020
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signalingMichaela Bosakova, Sara P Abraham, Alexandru Nita, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
JAMA Pediatrics|September 22, 2025
Clinical Long-Read Sequencing Test for Genetic Disease DiagnosisIsabelle Thiffault, Emily Farrow, Cassandra Barrett, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Pageof 14