Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
EMBO J
; 39(13): e104163, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32484994
3.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clin Genet
; 105(5): 555-560, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287449
4.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586840
5.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459409
6.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141892
7.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
8.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
9.
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
Am J Med Genet A
; 188(5): 1600-1606, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35060672
10.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
11.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277917
12.
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Genet Med
; 21(7): 1657-1661, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563986
13.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Am J Med Genet A
; 179(9): 1756-1763, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241255
14.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
15.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
16.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
17.
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
Eur J Med Genet
; 66(2): 104678, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503153
18.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
19.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet
; 66(10): 104841, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714374
20.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035737