Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Am J Med Genet A
; 170(8): 2181-5, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27170158
7.
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
8.
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Genet Med
; 16(5): 386-394, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136616
9.
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
10.
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
N Engl J Med
; 362(13): 1181-91, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20220177
11.
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
12.
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