Detalhe da pesquisa
1.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757
2.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
3.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
4.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
5.
Re-scaling and small area estimation of behavioral risk survey guided by social vulnerability data.
BMC Public Health
; 23(1): 184, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707789
6.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160754
7.
Excess of homozygosity in the major histocompatibility complex in schizophrenia.
Hum Mol Genet
; 23(22): 6088-95, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24943592
8.
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Hum Mol Genet
; 23(17): 4693-702, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842889
9.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Genet Med
; 23(12): 2462, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046848
10.
Brain white matter development is associated with a human-specific haplotype increasing the synthesis of long chain fatty acids.
J Neurosci
; 34(18): 6367-76, 2014 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24790207
11.
Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment.
Am J Med Genet B Neuropsychiatr Genet
; 168B(5): 363-73, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25951819
12.
Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
Hum Genet
; 132(5): 523-36, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23354978
13.
De novo copy number variants are associated with congenital diaphragmatic hernia.
J Med Genet
; 49(10): 650-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054247
14.
Multivariate small area modelling of undernutrition prevalence among under-five children in Bangladesh.
Int J Biostat
; 19(1): 191-215, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35624076
15.
Food insecurity in the Eastern Indo-Gangetic plain: Taking a closer look.
PLoS One
; 18(1): e0279414, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602961
16.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Circ Genom Precis Med
; 16(5): 415-420, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37417234
17.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993157
18.
Multivariate Small Area Modelling for Measuring Micro Level Earning Inequality: Evidence from Periodic Labour Force Survey of India.
Soc Indic Res
; 162(2): 643-663, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013635
19.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838
20.
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.
J Inherit Metab Dis
; 34(5): 1013-22, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21559944