Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
3.
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Am J Med Genet A
; 185(7): 1972-1980, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797191
4.
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Am J Hum Genet
; 101(1): 149-156, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686854
5.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Hum Genet
; 137(9): 689-703, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046887
6.
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Mol Genet Metab
; 125(3): 302-304, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249361
7.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Am J Med Genet A
; 176(4): 1015-1022, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436111
8.
The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima.
PLoS Biol
; 12(11): e1002005, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25423365
9.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genet Med
; 18(5): 443-51, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378787
10.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Genet Med
; 18(11): 1158-1162, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26963285
11.
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Hum Genet
; 134(6): 671-3, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893792
12.
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Am J Med Genet A
; 167A(9): 2132-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846457
13.
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Am J Med Genet A
; 164A(9): 2328-34, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25045128
14.
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Cell Rep
; 12(7): 1169-83, 2015 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26257172
15.
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Genome Med
; 5(6): 57, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23806086