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Seth I Berger

Showing results (31-40 of 61) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
American Journal of Medical Genetics. Part A|July 8, 2022
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestryCharles J Billington, Kimberly A Chapman, Eyby Leon, et al.
Clinical Genetics|February 9, 2023
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysisHuda B Al-Kouatly, Kavya Shivashankar, Matthew H Mossayebi, et al.
Frontiers in Oncology|February 4, 2020
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two SiblingsSulgi Lee, Madhuri Kambhampati, M Isabel Almira-Suarez, et al.
Circulation. Genomic and Precision Medicine|January 15, 2021
Exome Sequencing and Congenital Heart Disease in Sub-Saharan AfricaEkanem N Ekure, Adebowale Adeyemo, Hanhan Liu, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Identification of <i>de novo</i> variants from parent-proband duos via long-read sequencingLeandros Boukas, Emmanuèle C Délot, Georgia Pitsava, et al.
American Journal of Human Genetics|March 8, 2026
Identification of de novo variants from parent-proband duos via long-read sequencingLeandros Boukas, Emmanuèle C Délot, Georgia Pitsava, et al.
American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
Pageof 7

Showing results (31-40 of 61) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
American Journal of Medical Genetics. Part A|July 8, 2022
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestryCharles J Billington, Kimberly A Chapman, Eyby Leon, et al.
Clinical Genetics|February 9, 2023
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysisHuda B Al-Kouatly, Kavya Shivashankar, Matthew H Mossayebi, et al.
Frontiers in Oncology|February 4, 2020
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two SiblingsSulgi Lee, Madhuri Kambhampati, M Isabel Almira-Suarez, et al.
Circulation. Genomic and Precision Medicine|January 15, 2021
Exome Sequencing and Congenital Heart Disease in Sub-Saharan AfricaEkanem N Ekure, Adebowale Adeyemo, Hanhan Liu, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Identification of <i>de novo</i> variants from parent-proband duos via long-read sequencingLeandros Boukas, Emmanuèle C Délot, Georgia Pitsava, et al.
American Journal of Human Genetics|March 8, 2026
Identification of de novo variants from parent-proband duos via long-read sequencingLeandros Boukas, Emmanuèle C Délot, Georgia Pitsava, et al.
American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
Pageof 7