Detalhe da pesquisa
1.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Hum Genet
; 143(3): 279-291, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451290
2.
Genomic newborn screening: Are we entering a new era of screening?
J Inherit Metab Dis
; 46(5): 778-795, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403863
3.
Elective genomic testing: Practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 32(2): 281-299, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597794
4.
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
J Allergy Clin Immunol
; 148(2): 585-598, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771552
5.
An online compendium of treatable genetic disorders.
Am J Med Genet C Semin Med Genet
; 187(1): 48-54, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350578
6.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Hum Mol Genet
; 28(17): 2937-2951, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152168
7.
Reducing Sanger confirmation testing through false positive prediction algorithms.
Genet Med
; 23(7): 1255-1262, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767343
8.
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1399-1415, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927380
9.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
10.
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
Am J Med Genet A
; 182(5): 1217-1222, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034940
11.
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
J Med Genet
; 56(12): 783-791, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31023718
12.
Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders.
J Inherit Metab Dis
; 47(1): 7-8, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148645
13.
Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.
J Genet Couns
; 28(2): 438-448, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964585
14.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964584
15.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
16.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
17.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med
; 17(5): 405-24, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25741868
18.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab
; 116(3): 139-45, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385305
19.
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Birth Defects Res A Clin Mol Teratol
; 103(7): 630-40, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26118977
20.
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
N Engl J Med
; 365(7): 611-9, 2011 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21793738