Prati
Laura Milko
Laura Milko
Potvrđena adresa e-pošte na med.unc.edu - Početna stranica
Naslov
Citirano
Citirano
Godina
ClinGen—the clinical genome resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine 372 (23), 2235-2242, 2015
11822015
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
4572017
Evaluating the clinical validity of hypertrophic cardiomyopathy genes
J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ...
Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019
3342019
Newborn sequencing in genomic medicine and public health
JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ...
Pediatrics 139 (2), 2017
2302017
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
JL Mester, R Ghosh, T Pesaran, R Huether, R Karam, KS Hruska, ...
Human mutation 39 (11), 1581-1592, 2018
1522018
ClinGen variant curation expert panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
EA Rivera‐Muñoz, LV Milko, SM Harrison, DR Azzariti, CL Kurtz, K Lee, ...
Human mutation 39 (11), 1614-1622, 2018
1522018
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
JE Hunter, SA Irving, LG Biesecker, A Buchanan, B Jensen, K Lee, ...
Genetics in Medicine 18 (12), 1258-1268, 2016
1012016
Genomic sequencing for newborn screening: results of the NC NEXUS project
TS Roman, SB Crowley, MI Roche, AKM Foreman, JM O’Daniel, ...
The American Journal of Human Genetics 107 (4), 596-611, 2020
822020
Increasing the diagnostic yield of exome sequencing by copy number variant analysis
DS Marchuk, K Crooks, N Strande, K Kaiser-Rogers, LV Milko, A Brandt, ...
PloS one 13 (12), e0209185, 2018
782018
An age-based framework for evaluating genome-scale sequencing results in newborn screening
LV Milko, JM O'Daniel, DM DeCristo, SB Crowley, AKM Foreman, ...
The Journal of pediatrics 209, 68-76, 2019
592019
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
GT Haskell, MC Adams, Z Fan, K Amin, RJ Guzman Badillo, L Zhou, ...
Neurology: Genetics 4 (1), e212, 2018
532018
High diagnostic yield of whole exome sequencing in participants with retinal dystrophies in a clinical ophthalmology setting
K Lee, JS Berg, L Milko, K Crooks, M Lu, C Bizon, P Owen, ...
American journal of ophthalmology 160 (2), 354-363. e9, 2015
392015
Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a …
LV Milko, C Rini, MA Lewis, RM Butterfield, FC Lin, RS Paquin, BC Powell, ...
Trials 19, 1-14, 2018
362018
Estimation of hybridization and introgression frequency in toads (genus: Bufo) using DNA sequence variation at mitochondrial and nuclear loci
LS Vogel, SG Johnson
Journal of Herpetology 42 (1), 61-75, 2008
272008
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making
DM DeCristo, LV Milko, JM O’Daniel, AKM Foreman, LF Mollison, ...
Genome Medicine 13, 1-13, 2021
262021
Response of Fowler's Toad (Anaxyrus fowleri) to competition and hydroperiod in the presence of the invasive Coastal Plain Toad (Incilius nebulifer)
LS Vogel, JHK Pechmann
Journal of Herpetology 44 (3), 382-389, 2010
222010
Barriers and facilitators for population genetic screening in healthy populations: a systematic review
EC Shen, S Srinivasan, LE Passero, CG Allen, M Dixon, K Foss, ...
Frontiers in Genetics 13, 865384, 2022
212022
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
LV Milko, BH Funke, RE Hershberger, DR Azzariti, K Lee, ER Riggs, ...
Genetics in Medicine 21 (4), 987-993, 2019
212019
The rise of population genomic screening: characteristics of current programs and the need for evidence regarding optimal implementation
KS Foss, JM O’Daniel, JS Berg, SN Powell, RJ Cadigan, KJ Kuczynski, ...
Journal of personalized medicine 12 (5), 692, 2022
172022
Dispersal via stream corridors structures populations of the endangered St. Francis’ satyr butterfly (Neonympha mitchellii francisci)
LV Milko, NM Haddad, SL Lance
Journal of Insect Conservation 16, 263-273, 2012
172012
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