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Susan M Hiatt

Showing results (11-20 of 42) with videos related to

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Genome Research|September 19, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
NPJ Dementia|May 28, 2026
Early onset rapidly progressive frontotemporal dementia due to a novel MAPT P301A variant with functional validation of pathogenicityKiet Hua, Maryam R Pearson, Brandon I Apresa, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Nucleic Acids Research|November 22, 2013
RefSeq: an update on mammalian reference sequencesKim D Pruitt, Garth R Brown, Susan M Hiatt, et al.
Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Genome Research|September 19, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
NPJ Dementia|May 28, 2026
Early onset rapidly progressive frontotemporal dementia due to a novel MAPT P301A variant with functional validation of pathogenicityKiet Hua, Maryam R Pearson, Brandon I Apresa, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Nucleic Acids Research|November 22, 2013
RefSeq: an update on mammalian reference sequencesKim D Pruitt, Garth R Brown, Susan M Hiatt, et al.
Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
Pageof 5