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American Journal of Human Genetics
|
February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
American Journal of Human Genetics
|
August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Quentin Thomas, Marialetizia Motta, Thierry Gautier, et al.
The Lancet. Neurology
|
July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
J Robert Harkness, John H McDermott, Shea Marsden, et al.
Nature Communications
|
July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Genome Medicine
|
May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Ilaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
American Journal of Human Genetics
|
December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
American Journal of Human Genetics
|
January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Joery den Hoed, Elke de Boer, Norine Voisin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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Search research articles
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Showing results (51-60 of 63) with videos related to
Sort By:
Page
of 7
American Journal of Human Genetics
|
February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
American Journal of Human Genetics
|
August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Quentin Thomas, Marialetizia Motta, Thierry Gautier, et al.
The Lancet. Neurology
|
July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
J Robert Harkness, John H McDermott, Shea Marsden, et al.
Nature Communications
|
July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Genome Medicine
|
May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Ilaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
American Journal of Human Genetics
|
December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
American Journal of Human Genetics
|
January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Joery den Hoed, Elke de Boer, Norine Voisin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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of 7