Detalhe da pesquisa
1.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37580113
2.
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
Inglês
| MEDLINE | ID: mdl-38538918
3.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33144682
4.
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.
Clin Immunol
; 207: 55-57, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30282051
5.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745126
6.
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.
Am J Med Genet A
; 176(12): 2846-2849, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30549423
7.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29050392
8.
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.
Hered Cancer Clin Pract
; 15: 10, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28736585
9.
Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia.
N Engl J Med
; 375(5): 494-6, 2016 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27518686
10.
Three rare disease diagnoses in one patient through exome sequencing.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31427378
11.
Clinical spectrum of STX1B-related epileptic disorders.
Neurology
; 92(11): e1238-e1249, 2019 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30737342
12.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30679813
13.
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28963436
14.
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.
Mol Genet Metab Rep
; 13: 46-51, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28831385
15.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Cold Spring Harb Mol Case Stud
; 3(3): a001743, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28487885
16.
Teaching NeuroImages: The lentiform fork sign: An MRI pattern of metformin-associated encephalopathy.
Neurology
; 85(7): 655, 2015 Aug 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26283760