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1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Article
in English
| MEDLINE | ID: mdl-35202563
2.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32553196
3.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33999436
4.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
5.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia
; 62(1): e13-e21, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33280099
6.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31776469
7.
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Clin Genet
; 97(3): 437-446, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31721175
8.
Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype.
Actas Esp Psiquiatr
; 47(3): 79-87, 2019 May.
Article
in English
| MEDLINE | ID: mdl-31233206
9.
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.
Br J Psychiatry
; 212(5): 287-294, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29693535
10.
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.
Behav Genet
; 48(4): 323-336, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29882083
11.
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
BMC Med Genet
; 18(1): 137, 2017 11 21.
Article
in English
| MEDLINE | ID: mdl-29162042
12.
Paternal transmission of a FMR1 full mutation allele.
Am J Med Genet A
; 173(10): 2795-2797, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28815939
13.
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
J Med Genet
; 53(11): 776-785, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27334370
14.
Novel Mutations Causing C5 Deficiency in Three North-African Families.
J Clin Immunol
; 36(4): 388-96, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27026170
15.
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Clin Epigenetics
; 16(1): 62, 2024 May 07.
Article
in English
| MEDLINE | ID: mdl-38715103
16.
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
Front Genet
; 15: 1291063, 2024.
Article
in English
| MEDLINE | ID: mdl-38356699
17.
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Genes (Basel)
; 14(3)2023 03 13.
Article
in English
| MEDLINE | ID: mdl-36980980
18.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Front Genet
; 13: 652454, 2022.
Article
in English
| MEDLINE | ID: mdl-35495150
19.
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
Front Neurosci
; 15: 618098, 2021.
Article
in English
| MEDLINE | ID: mdl-34121983
20.
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
PLoS One
; 16(10): e0258766, 2021.
Article
in English
| MEDLINE | ID: mdl-34653234