Detalhe da pesquisa
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
2.
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clin Genet
; 101(3): 335-345, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958122
3.
Further delineation of SET-related intellectual disability syndrome.
Am J Med Genet A
; 188(5): 1595-1599, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35122673
4.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
5.
A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.
Surg Today
; 51(3): 439-446, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876734
6.
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Am J Hum Genet
; 100(1): 169-178, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017374
7.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
8.
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
Pediatr Int
; 62(5): 556-561, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955471
9.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Genet Med
; 21(7): 1629-1638, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30467404
10.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
11.
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
Clin Genet
; 95(6): 713-717, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847897
12.
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Ann Neurol
; 84(6): 814-828, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30427554
13.
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Ann Neurol
; 83(4): 794-806, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534297
14.
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Am J Hum Genet
; 97(4): 555-66, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411495
15.
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
J Hum Genet
; 63(4): 417-423, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29403087
16.
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
J Hum Genet
; 62(8): 741-746, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28250421
17.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
J Med Genet
; 53(3): 152-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26543203
18.
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
Hum Genet
; 135(1): 61-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26563443
19.
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Am J Hum Genet
; 93(3): 496-505, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993195
20.
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Am J Hum Genet
; 92(6): 927-34, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664117