Detalhe da pesquisa
1.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
BMC Neurol
; 24(1): 31, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233770
2.
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Clin Genet
; 100(2): 201-205, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33890291
3.
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Clin Genet
; 100(5): 542-550, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302356
4.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(5): 1206-1216, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843126
5.
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
J Hum Genet
; 64(1): 17-21, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30337681
6.
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
J Hum Genet
; 63(8): 935-939, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29695797
7.
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
J Hum Genet
; 63(1): 19-25, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215095
8.
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.
Am J Med Genet A
; 176(5): 1232-1237, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681094
9.
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
Am J Med Genet A
; 176(1): 156-160, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29150899
10.
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
J Hum Genet
; 62(7): 723-727, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28356563
11.
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.
J Hum Genet
; 62(3): 437-441, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829680
12.
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.
Am J Med Genet A
; 170(11): 2998-3003, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27191798
13.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(6): 1406-1408, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912047
14.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun
; 15(1): 1640, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388531
15.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Res Sq
; 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609289
16.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Res Sq
; 2023 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37720017
17.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
medRxiv
; 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873138
18.
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
J Hum Genet
; 62(9): 867, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28615676
19.
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Am J Med Genet A
; 170(9): 2486-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271431
20.
Recent advances in epilepsy genomics and genetic testing.
F1000Res
; 92020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201576