Detalhe da pesquisa
1.
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Proc Natl Acad Sci U S A
; 120(7): e2217831120, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745799
2.
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
J Med Genet
; 61(2): 117-124, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37399313
3.
ZNF142 mutation causes sex-dependent neurologic disorder.
J Med Genet
; 61(6): 566-577, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296634
4.
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hum Genet
; 143(5): 695-701, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607411
5.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med
; 26(4): 101068, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193396
6.
A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.
J Med Virol
; 96(2): e29436, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380509
7.
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Clin Genet
; 105(6): 671-675, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351533
8.
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
Clin Genet
; 105(1): 44-51, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814412
9.
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Clin Genet
; 104(5): 571-576, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308324
10.
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
Am J Med Genet A
; 191(11): 2768-2774, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37615310
11.
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
J Inherit Metab Dis
; 46(4): 744-755, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695547
12.
[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].
Harefuah
; 162(6): 362-365, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394438
13.
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Ann Hum Genet
; 86(5): 245-256, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451063
14.
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.
Clin Genet
; 102(2): 123-129, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35443069
15.
PSMC1 variant causes a novel neurological syndrome.
Clin Genet
; 102(4): 324-332, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861243
16.
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.
J Med Genet
; 58(4): 254-263, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32527956
17.
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Hum Mutat
; 41(1): 140-149, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31456290
18.
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Neurogenetics
; 21(4): 301-304, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488727
19.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Am J Hum Genet
; 101(1): 23-36, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28625504
20.
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Clin Genet
; 97(6): 920-926, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157688