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Jennifer A Sullivan

Showing results (31-40 of 45) with videos related to

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Nature Medicine|September 5, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check programHeidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndromeAlyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
American Journal of Human Genetics|December 25, 2018
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Justine Rousseau, Sophie Ehresmann, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

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Pageof 5
Nature Medicine|September 5, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check programHeidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndromeAlyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
American Journal of Human Genetics|December 25, 2018
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Justine Rousseau, Sophie Ehresmann, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Pageof 5