Aberrant inclusion of a poison exon causes Dravet syndrome and related SCN1A-associated genetic epilepsies GL Carvill, KL Engel, A Ramamurthy, JN Cochran, J Roovers, ... The American Journal of Human Genetics 103 (6), 1022-1029, 2018 | 94 | 2018 |
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders SM Hiatt, JMJ Lawlor, LH Handley, RC Ramaker, BB Rogers, ... Human Genetics and Genomics Advances 2 (2), 2021 | 44 | 2021 |
Systematic reanalysis of genomic data improves quality of variant interpretation SM Hiatt, MD Amaral, KM Bowling, CR Finnila, ML Thompson, DE Gray, ... Clinical genetics 94 (1), 174-178, 2018 | 43 | 2018 |
Genomic sequencing identifies secondary findings in a cohort of parent study participants ML Thompson, CR Finnila, KM Bowling, KB Brothers, MB Neu, ... Genetics in Medicine 20 (12), 1635-1643, 2018 | 32 | 2018 |
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles JN Cochran, EC McKinley, M Cochran, MD Amaral, BA Moyers, ... Molecular Case Studies 5 (6), a003491, 2019 | 29 | 2019 |
Deleterious variation in BRSK2 associates with a neurodevelopmental disorder SM Hiatt, ML Thompson, JW Prokop, JMJ Lawlor, DE Gray, EM Bebin, ... The American Journal of Human Genetics 104 (4), 701-708, 2019 | 29 | 2019 |
Patient and family experience of telehealth care delivery as part of the CF chronic care model early in the COVID-19 pandemic A Solomon, George M and Bailey, Julianna and Lawlor, James and Scalia, Peter ... Journal of cystic fibrosis 20, 41--46, 2021 | 28 | 2021 |
Genome sequencing as a first-line diagnostic test for hospitalized infants KM Bowling, ML Thompson, CR Finnila, SM Hiatt, DR Latner, MD Amaral, ... Genetics in Medicine 24 (4), 851-861, 2022 | 26 | 2022 |
The therapeutic odyssey: positioning genomic sequencing in the search for a child’s best possible life JE Childerhose, C Rich, KM East, WV Kelley, S Simmons, CR Finnila, ... AJOB empirical bioethics 12 (3), 179-189, 2021 | 14 | 2021 |
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls KM Bowling, ML Thompson, DE Gray, JMJ Lawlor, K Williams, KM East, ... Genetics in Medicine 23 (2), 280-288, 2021 | 10 | 2021 |
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis M Sanders, JMJ Lawlor, X Li, JN Schuen, SL Millard, X Zhang, L Buck, ... Human genetics 140, 423-439, 2021 | 9 | 2021 |
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience KD Muenzen, LM Amendola, TL Kauffman, KF Mittendorf, JT Bensen, ... Human Genetics and Genomics Advances 3 (3), 2022 | 5 | 2022 |
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing SA Felker, JMJ Lawlor, SM Hiatt, ML Thompson, DR Latner, CR Finnila, ... Genetics in Medicine 25 (8), 100884, 2023 | 3 | 2023 |
Parents’ perspectives on the utility of genomic sequencing in the neonatal intensive care unit AA Lemke, ML Thompson, EC Gimpel, KC McNamara, CA Rich, ... Journal of Personalized Medicine 13 (7), 1026, 2023 | 3 | 2023 |
Seven Degrees of Separation: The Importance of High-Quality Contractor Data in Cost Estimating C Petty, C Smart, J Lawlor International Cost Estimating and Analysis Association Professional …, 2015 | 3 | 2015 |
Contributions of rare and common variation to early-onset and atypical dementia risk CA Wright, JW Taylor, M Cochran, JMJ Lawlor, BA Moyers, MD Amaral, ... Molecular Case Studies 9 (3), a006271, 2023 | 1 | 2023 |
338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care NA Limdi, D Absher, I Asif, L Bateman, G Barsh, KM Bowling, GM Cooper, ... Journal of Clinical and Translational Science 7 (s1), 100-101, 2023 | 1 | 2023 |
Coming Full Circle: Reflections and Inspirations from a Cystic Fibrosis Patient Scientist Panel AXCH Nowakowski, GE Balasa, MF Figueira, FTJ LaRosa III, JMJ Lawlor INQUIRY: The Journal of Health Care Organization, Provision, and Financing …, 2022 | 1 | 2022 |
eP425: Parental impact of genome sequencing during the neonatal period K Brothers, C Rich, E Gimpel, K East, M Cochran, V Greve, WV Kelley, ... Genetics in Medicine 24 (3), S266, 2022 | 1 | 2022 |
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders SM Hiatt, JMJ Lawlor, LH Handley, DR Latner, ZT Bonnstetter, CR Finnila, ... medRxiv, 2024.03. 22.24304633, 2024 | | 2024 |