Detalles de la búsqueda
1.
Newborn screening for neurodevelopmental diseases: Are we there yet?
Am J Med Genet C Semin Med Genet
; 190(2): 222-230, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35838066
2.
The 2019 US medical genetics workforce: a focus on clinical genetics.
Genet Med
; 23(8): 1458-1464, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33941882
3.
Foundation of the Newborn Screening Translational Research Network and its tools for research.
Genet Med
; 21(6): 1271-1279, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30393376
4.
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 772-789, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30659246
5.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30181607
6.
ClinGen--the Clinical Genome Resource.
N Engl J Med
; 372(23): 2235-42, 2015 06 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26014595
7.
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
Genet Med
; 18(10): 1056-65, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27467454
8.
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 979-988, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33790423
9.
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 989-995, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33727704
10.
Correction to: ACMG SF v3.0 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
; 23(8): 1582-1584, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34345026
11.
ACMG SF v3.0 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
; 23(8): 1381-1390, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34012068
12.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1391-1398, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34012069
13.
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(6): 983-985, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32127695
14.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 16(11): e1, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25356975
15.
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
16.
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Genet Med
; 15(7): 565-74, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23788249
17.
Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.
Genet Med
; 19(9)2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28640242
18.
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Genet Med
; 19(5): 606, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28492529
19.
The Progress and Future of US Newborn Screening.
Int J Neonatal Screen
; 8(3)2022 Jul 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-35892471
20.
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
Genet Med
; 13(5): 457-84, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21502868