Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
2.
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
Hum Mol Genet
; 31(7): 1105-1114, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686882
3.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561231
4.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859317
5.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030819
6.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872713
7.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
8.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
9.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
10.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
11.
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Genet Med
; 24(2): 344-363, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906519
12.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
13.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
14.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
15.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502745
16.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
17.
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
Clin Genet
; 98(5): 515-516, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926405
18.
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
Clin Genet
; 98(2): 126-137, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32378186
19.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783266
20.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30356099