Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030819
3.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
4.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
5.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
6.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
7.
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Ann Neurol
; 92(6): 958-973, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36073542
8.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826837
9.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
10.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
11.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
12.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet
; 100(5): 773-788, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475860
13.
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Am J Med Genet A
; 182(9): 2133-2138, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633079
14.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269351
15.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
16.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178447
17.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
18.
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Prenat Diagn
; 36(6): 561-7, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061523
19.
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Am J Med Genet A
; 167A(8): 1851-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900885
20.
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Ophthalmic Genet
; 45(1): 84-94, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158316