Detalles de la búsqueda
1.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31031012
2.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31692161
3.
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(8): 1288-1295, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32404922
4.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573057
5.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Genet Med
; 21(4): 861-866, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30214068
6.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311378
7.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25728775
8.
Moving toward more consistency in variant classification and clinical action.
Genet Med
; 25(1): 12-15, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36399133
9.
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
10.
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100017, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36799919
11.
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100867, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37310422
12.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27811861
13.
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Genes Chromosomes Cancer
; 55(2): 131-42, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26542077
14.
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(7): 1179-1184, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33864022
15.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Genet Med
; 23(12): 2462, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33046848
16.
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(8): 1285-1287, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32404921
17.
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(6): 1267-1270, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31015575
18.
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Genet Med
; 16(7): 510-5, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24406459
19.
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 769-771, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30578420
20.
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
BMC Med Genet
; 15: 49, 2014 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24886118