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1.
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Annu Rev Genomics Hum Genet
; 23: 331-361, 2022 08 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-36044908
2.
Insufficient Evidence for "Autism-Specific" Genes.
Am J Hum Genet
; 106(5): 587-595, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32359473
3.
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Genet Med
; 24(11): 2240-2248, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35997716
4.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35616647
5.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29290338
6.
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1818-1829, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34131312
7.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Clin Genet
; 99(4): 547-557, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33381861
8.
Minimizing radiation dose in management of stone disease: how to achieve 'ALARA'.
Curr Opin Urol
; 31(2): 115-119, 2021 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33394609
9.
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Genet Med
; 22(6): 986-1004, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32203227
10.
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 22(10): 1731-1732, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32728138
11.
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 21(11): 2413-2421, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31182824
12.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30275510
13.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190611
14.
Loss of Twist1 in the Mesenchymal Compartment Promotes Increased Fibrosis in Experimental Lung Injury by Enhanced Expression of CXCL12.
J Immunol
; 198(6): 2269-2285, 2017 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28179498
15.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29915380
16.
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100866, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37347242
17.
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.
Circulation
; 134(2): 114-25, 2016 Jul 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27400896
18.
Response to McGurk et al.
Genet Med
; 24(3): 747-748, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906521
19.
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(7): 1407-1414, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35802134
20.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 249-255, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27854360