Detalhe da pesquisa
1.
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
Cell
; 176(3): 505-519.e22, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612738
2.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
3.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
4.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576126
5.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429572
6.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
7.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Genet Med
; 22(3): 547-556, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649276
8.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
9.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992
10.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851191
11.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
12.
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum Genet
; 136(7): 821-834, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28393272
13.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
14.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862890
15.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet
; 134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724810
16.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
17.
RAD21 mutations cause a human cohesinopathy.
Am J Hum Genet
; 90(6): 1014-27, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22633399
18.
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
BMC Med Genet
; 16: 30, 2015 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943194
19.
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
J Med Genet
; 50(12): 838-47, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24092917
20.
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
Ren Fail
; 36(4): 619-22, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24502542