Detalhe da pesquisa
1.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Hum Mutat
; 43(8): 1031-1040, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694049
2.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(2): 255-261, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906464
3.
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Hum Mutat
; 41(7): 1238-1249, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112660
4.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690835
5.
Pediatric acute myeloid leukemia with t(7;21)(p22;q22).
Genes Chromosomes Cancer
; 58(8): 551-557, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706625
6.
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
Cytogenet Genome Res
; 159(1): 19-25, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487712
7.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261438
8.
Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity.
Mod Pathol
; 30(9): 1234-1240, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752840
9.
Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology.
Mod Pathol
; 30(9): 1321-1334, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28621320
10.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 23(11): 2230, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731880
11.
Centrosome movements in vivo correlate with specific neurite formation downstream of LIM homeodomain transcription factor activity.
Development
; 139(19): 3590-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22899847
12.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341575
13.
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Am J Med Genet A
; 164A(7): 1795-801, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700761
14.
Genomic landscape of cutaneous follicular lymphomas reveals 2 subgroups with clinically predictive molecular features.
Blood Adv
; 5(3): 649-661, 2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560380
15.
Alternative ESC and ESC-like subunits of a polycomb group histone methyltransferase complex are differentially deployed during Drosophila development.
Mol Cell Biol
; 26(7): 2637-47, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16537908
16.
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
Eur J Med Genet
; 62(1): 9-14, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29698806
17.
Subunit contributions to histone methyltransferase activities of fly and worm polycomb group complexes.
Mol Cell Biol
; 25(16): 6857-68, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16055700
18.
Genomic Analyses Identify Recurrent Alterations in Immune Evasion Genes in Diffuse Large B-Cell Lymphoma, Leg Type.
J Invest Dermatol
; 138(11): 2365-2376, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29857068
19.
Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease.
Am J Clin Pathol
; 156(4): 715-716, 2021 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34165497
20.
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
Eur J Hum Genet
; 22(4): 464-70, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23963300