Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
3.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
4.
Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.
Clin Genet
; 105(4): 455-456, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346866
5.
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.
Am J Med Genet A
; 194(5): e63499, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135440
6.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
7.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
8.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
9.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med
; 22(10): 1633-1641, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576985
10.
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Am J Med Genet A
; 182(11): 2501-2507, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869452
11.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520571
12.
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Am J Hum Genet
; 99(4): 886-893, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616478
13.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
14.
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Am J Med Genet A
; 179(12): 2357-2364, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512387
15.
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
Am J Med Genet A
; 176(4): 973-979, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423971
16.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251352
17.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216405
18.
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.
EMBO J
; 31(5): 1095-108, 2012 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22343943
19.
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
Clin Genet
; 99(3): 477-480, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188530
20.
SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors.
Mol Ther
; 21(4): 767-74, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358188