Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet
; 108(6): 1083-1094, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022131
3.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
4.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
5.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833929
6.
Response to treatment and outcomes of infantile spasms in Down syndrome.
Dev Med Child Neurol
; 64(6): 780-788, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35092693
7.
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons.
BMC Neurosci
; 22(1): 56, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525970
8.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
9.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732
10.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235985
11.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658852
12.
Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.
Am J Med Genet A
; 176(5): 1180-1183, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427337
13.
Incidence of Fragile X syndrome in Ireland.
Am J Med Genet A
; 173(3): 678-683, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28157260
14.
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
Am J Med Genet A
; 173(1): 274-279, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27774767
15.
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
J Hum Genet
; 61(8): 761-4, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193218
16.
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Epilepsia
; 57(1): e12-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26648591
17.
The variable phenotypes of KCNQ-related epilepsy.
Epilepsia
; 55(9): e99-105, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25052858
18.
Towards the identification of a genetic basis for Landau-Kleffner syndrome.
Epilepsia
; 55(6): 858-65, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24828792
19.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nat Genet
; 36(4): 400-4, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15052268
20.
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Eur J Hum Genet
; 31(9): 1040-1047, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407733