Detalhe da pesquisa
1.
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Clin Chem
; 68(9): 1177-1183, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869940
2.
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Clin Genet
; 102(2): 136-141, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533077
3.
Diagnostic yield of genetic testing in 324 infants with hypotonia.
Clin Genet
; 100(6): 752-757, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480364
4.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
5.
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Hum Mutat
; 40(11): e37-e51, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260137
6.
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
BMC Med Genet
; 19(1): 41, 2018 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29523099
7.
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.
Am J Med Genet A
; 176(9): 2017-2023, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055081
8.
Expanding the phenotype of feingold syndrome-2.
Am J Med Genet A
; 167A(12): 3219-25, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26360630
9.
The role of Drosophila cytidine monophosphate-sialic acid synthetase in the nervous system.
J Neurosci
; 33(30): 12306-15, 2013 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-23884937
10.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
11.
Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature.
J Med Case Rep
; 18(1): 95, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351155
12.
ALK-positive anaplastic large-cell lymphoma with marked leukemoid reaction and hemophagocytic lymphohistiocytosis.
Blood
; 127(16): 2041, 2016 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27563714
13.
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.
Cancer Genet
; 274-275: 10-20, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917897
14.
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Am J Med Genet A
; 158A(8): 1924-33, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786685
15.
Sialyltransferase regulates nervous system function in Drosophila.
J Neurosci
; 30(18): 6466-76, 2010 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20445073
16.
Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors.
Ear Nose Throat J
; 100(5): NP263-NP268, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550935
17.
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
J Mol Diagn
; 23(5): 651-657, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631350
18.
Application of 2016 WHO classification in the diagnosis of paediatric high-grade MYC-negative mature B-cell lymphoma with Burkitt-like morphological features.
J Clin Pathol
; 73(9): 563-570, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31964683
19.
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Eur J Med Genet
; 63(1): 103636, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836150
20.
Sialylation in protostomes: a perspective from Drosophila genetics and biochemistry.
Glycoconj J
; 26(3): 313-24, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18568399