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James M.J. Lawlor
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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
922018
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
412018
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
382021
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
322018
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
292019
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
282021
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
282019
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
242022
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
132021
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
92021
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
92021
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
42022
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
32015
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
22023
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
12023
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
12023
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
12023
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
12022
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
12022
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
2024
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