Detalles de la búsqueda
1.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med
; : 101164, 2024 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38757444
2.
Quality of life measures in children with Down syndrome with disorders of gut-brain interaction.
Am J Med Genet C Semin Med Genet
; 193(4): e32071, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37882146
3.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37087635
4.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat
; 43(3): 305-315, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35026043
5.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35341655
6.
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Am J Hum Genet
; 103(3): 328-337, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30100086
7.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(11): 2029-2037, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34211152
8.
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.
Genet Med
; 22(4): 767-776, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31767984
9.
A pediatric perspective on genomics and prevention in the twenty-first century.
Pediatr Res
; 87(2): 338-344, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31578042
10.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Hum Mutat
; 40(12): 2286-2295, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31397523
11.
Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.
Genet Med
; 21(6): 1417-1424, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30449888
12.
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genet Med
; 20(5): 554-558, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29261187
13.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26917586
14.
Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports.
J Genet Couns
; 26(5): 980-998, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28345121
15.
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
16.
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genet Med
; 23(12): 2470, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34646007
17.
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
Am J Med Genet A
; 164A(1): 243-50, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24352917
18.
Disorders of Gut-Brain Interaction in a National Cohort of Children With Down Syndrome.
J Neurogastroenterol Motil
; 29(1): 94-101, 2023 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36606440
19.
Generation of an induced pluripotent stem cell line (NCHi010-A) from a 6-year-old female with Down syndrome and without congenital heart disease.
Stem Cell Res
; 71: 103155, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37392705
20.
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Neurogenetics
; 13(1): 31-47, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22218741