Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Brain
; 147(1): 281-296, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721175
3.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366623
4.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
5.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163662
6.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
7.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
8.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta Neuropathol
; 145(1): 127-143, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264506
9.
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
J Pathol
; 256(1): 93-107, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599609
10.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
11.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791078
12.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
13.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
14.
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
Am J Med Genet A
; 188(1): 283-291, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519148
15.
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Eur J Neurol
; 29(3): 833-842, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34749429
16.
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Eur J Neurol
; 29(6): 1815-1824, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239206
17.
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Neurogenetics
; 22(4): 271-285, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34333724
18.
Molecular pathophysiology of human MICU1 deficiency.
Neuropathol Appl Neurobiol
; 47(6): 840-855, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33428302
19.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
20.
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Neuropediatrics
; 52(5): 390-393, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352606