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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.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Hum Mutat
; 43(8): 1031-1040, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34694049
4.
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
5.
Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.
Muscle Nerve
; 66(4): 479-486, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35894586
6.
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
7.
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
8.
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
9.
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
10.
Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays.
Genet Med
; 20(12): 1522-1527, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29565418
11.
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
12.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
13.
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
14.
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
15.
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
16.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341575
17.
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
18.
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
19.
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
20.
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