Detalhe da pesquisa
1.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
2.
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Hum Genet
; 139(11): 1381-1390, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399599
3.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
4.
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Genet Med
; 20(6): 645-654, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095811
5.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
6.
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
7.
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Am J Hum Genet
; 95(1): 113-20, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995870
8.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284480
9.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Am J Med Genet A
; 170(8): 2103-10, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256868
10.
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Epilepsia
; 57(11): 1858-1869, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27665735
11.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754886
12.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet
; 51(1): 21-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24133203
13.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167861
14.
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Am J Med Genet A
; 164A(6): 1537-44, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668847
15.
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
Am J Med Genet A
; 164A(3): 789-95, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357419
16.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
J Med Genet
; 49(12): 731-6, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23099646
17.
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
Hum Mutat
; 33(2): 355-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22124977
18.
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
J Med Genet
; 47(8): 549-53, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20656880
19.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet
; 28(6): 770-782, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005960
20.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Hum Mutat
; 30(2): E320-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19023858