Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-32732226
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
Inglês
| MEDLINE | ID: mdl-32399599
3.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31379041
4.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30269351
5.
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
Inglês
| MEDLINE | ID: mdl-31241255
6.
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
J Inherit Metab Dis
; 41(1): 129-139, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28924877
7.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27193221
8.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26288984
9.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
J Clin Endocrinol Metab
; 108(9): e779-e788, 2023 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36884306
10.
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
Inglês
| MEDLINE | ID: mdl-34712575
11.
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
Inglês
| MEDLINE | ID: mdl-31231135
12.
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Cell Stem Cell
; 24(2): 257-270.e8, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30595499
13.
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Eur J Hum Genet
; 26(1): 85-93, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29184170
14.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Eur J Med Genet
; 60(11): 595-604, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28807864
15.
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.
Clin Dysmorphol
; 26(4): 231-234, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28799946
16.
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.
Parkinsonism Relat Disord
; 20(8): 935-7, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24907184