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1.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Article
in English
| MEDLINE | ID: mdl-37713627
2.
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
J Med Genet
; 61(2): 109-116, 2024 Jan 19.
Article
in English
| MEDLINE | ID: mdl-37734846
3.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38471765
4.
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Br J Haematol
; 204(5): 1899-1907, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38432067
5.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109418
6.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34930816
7.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31585109
8.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-31031012
9.
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life.
J Pediatr
; 249: 106-110, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35803299
10.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32277047
11.
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.
J Gene Med
; 22(8): e3197, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32246869
12.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32694869
13.
Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?
Pediatr Radiol
; 50(10): 1397-1408, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32671416
14.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Article
in English
| MEDLINE | ID: mdl-34087165
15.
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Clin Genet
; 95(3): 420-426, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30633342
16.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26288984
17.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27648933
18.
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
Arch Pediatr
; 2024 May 07.
Article
in English
| MEDLINE | ID: mdl-38719651
19.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Article
in English
| MEDLINE | ID: mdl-38553851
20.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Article
in English
| MEDLINE | ID: mdl-37152996