Detalhe da pesquisa
1.
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
Cell
; 180(6): 1262-1271.e15, 2020 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169219
2.
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
3.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681873
4.
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
5.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
6.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
8.
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
9.
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
10.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
11.
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
12.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290155
13.
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
Am J Med Genet A
; 167A(1): 185-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402011
14.
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Front Cell Dev Biol
; 10: 1021785, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393831
15.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Mol Genet Metab Rep
; 29: 100812, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34712575
16.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Eur J Hum Genet
; 28(8): 1044-1055, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071410
17.
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Eur J Hum Genet
; 27(10): 1519-1531, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231135
18.
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Eur J Hum Genet
; 27(5): 701-710, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710147
19.
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Eur J Hum Genet
; 27(8): 1197-1214, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019283
20.
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Nat Genet
; 49(4): 527-536, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28288114