Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
BMC Genomics
; 25(1): 371, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627676
3.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
4.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
5.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
6.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
7.
Retinopathy of prematurity shows alterations in Vegfa164 isoform expression.
Pediatr Res
; 91(7): 1677-1685, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285351
8.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
9.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
10.
Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy.
Mol Vis
; 26: 257-276, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256029
11.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Clin Genet
; 98(2): 172-178, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415735
12.
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Am J Med Genet A
; 182(10): 2442-2449, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815268
13.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
14.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
15.
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.
J Clin Immunol
; 40(7): 1056-1061, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720229
16.
Genetic basis of age-dependent synaptic abnormalities in the retina.
Mamm Genome
; 26(1-2): 21-32, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25273269
17.
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
Neurooncol Adv
; 6(1): vdad163, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38213835
18.
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Mol Genet Genomic Med
; 10(7): e1966, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570467
19.
Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia.
Lab Med
; 53(4): e87-e90, 2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791328
20.
Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.
Mamm Genome
; 22(11-12): 714-21, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22038471