Search Results

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

• Authors : Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila

Subjects: TRPM3; cell biology; cerebellar atrophy

• Source: eLife, 12 (2023-01-17)

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

• Authors : Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.

Subjects: epilepsy; intellectual disability; language impairement

• Source: Christensen , M B , Levy , A M , Mohammadi , N A , Niceta , M , Kaiyrzhanov , R , Dentici , M L , Al Alam , C , Alesi , V , Benoit , V , Bhatia , K P , Bierhals , T , Boßelmann , C M , Buratti , J ,

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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

• Authors : Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna

Subjects: Intellectual disability; Neurotransmission; Synapse

• Source: Melland , H , Bumbak , F , Kolesnik-Taylor , A , Ng-Cordell , E , John , A , Constantinou , P , Joss , S , Larsen , M , Fagerberg , C , Laulund , L W , Thies , J , Emslie , F , Willemsen , M ,

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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

• Authors : Riggs, Erin Rooney; Bingaman, Taylor; Barry, Carrie-Ann ...

Subjects: Autism; ClinGen; Gene–disease validity

• Source: https://inserm.hal.science/inserm-03816347 ; 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩.

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

• Authors : TUDP Study Group; Broad Center for Mendelian Genomics;

Subjects: Lífefna- og sameindalíffræði; brain malformation; epilepsy

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

• Authors : Kloth, Katja; Lozic, Bernarda; Tagoe, Julia

Subjects: Adolescent [MeSH]; Ankyrin-G; Mutation

• Source: http://lobid.org/resources/99370672695206441#!, 22(4):263-269.

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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

• Authors : Erin Rooney Riggs; Taylor I. Bingaman; Carrie-Ann Barry ...

Subjects: ClinGen; MESH: Humans; Autism Spectrum Disorder

• Source: Genetics in MedicineGenetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

• Authors : den Hoed, J.; de Boer, E.; Voisin, N. ...

Subjects: Chromatin/metabolism; Female; Genetic Association Studies

• Source: American journal of human genetics, vol. 108, no. 2, pp. 346-356

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De novo variants in neurodevelopmental disorders with epilepsy

• Authors : Heyne, H. O.; Singh, T.; Stamberger, H. ...

Subjects: Exome/genetics; Male; 0301 basic medicine

• Source: bioRxiv. Cold Spring Harbor Labs Journals (2017).Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R,

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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

• Authors : Jacques Puechberty; Charlotte Brasch-Andersen; Aurélie Pain ...

Subjects: Male; Pediatrics; Heart malformation

• Source: Journal of Medical GeneticsJournal of Medical Genetics, BMJ Publishing Group, 2019, 56 (10), pp.701-710.

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