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1.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33159883
2.
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies.
Genes Chromosomes Cancer
; 61(10): 629-634, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35639830
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906464
4.
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.
Genet Med
; 22(12): 2120-2124, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32820244
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31690835
6.
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Eur J Haematol
; 102(1): 87-96, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30270457
7.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30095202
8.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100316, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36507974
9.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
10.
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Am J Med Genet A
; 176(12): 2798-2802, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30345613
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33731880
12.
Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Proc Natl Acad Sci U S A
; 110(37): 14990-4, 2013 Sep 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23980137
13.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341575
14.
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.
Am J Med Genet A
; 164A(10): 2514-20, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24975781
15.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet
; 87(5): 618-30, 2010 Nov 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-21055719
16.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet
; 86(5): 749-64, 2010 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-20466091
17.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn
; 25(7): 524-531, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37088140
18.
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
Genome Res
; 19(9): 1579-85, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19506092
19.
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
Am J Med Genet A
; 158A(9): 2152-61, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22847950
20.
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Genet Med
; 13(7): 680-5, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21681106