Detalhe da pesquisa
1.
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Hum Mol Genet
; 31(14): 2386-2395, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179199
2.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079474
3.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
4.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genet Med
; 24(9): 1927-1940, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670808
5.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
6.
Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.
FASEB J
; 35(2): e21302, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475190
7.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Brain
; 144(2): 574-583, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459760
8.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
9.
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
Eur J Public Health
; 32(3): 422-428, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165720
10.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
11.
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Am J Hum Genet
; 102(6): 1018-1030, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754768
12.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429572
13.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
14.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clin Genet
; 100(1): 14-28, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619735
15.
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.
FASEB J
; 34(7): 9018-9033, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515053
16.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
17.
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
J Med Genet
; 57(9): 624-633, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32086284
18.
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Am J Hum Genet
; 101(6): 1013-1020, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220673
19.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757203
20.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456