| 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 |
| 690 In-clinic oral glucose tolerance testing increases screening rates and patient satisfaction J Lawlor, K Amos, L Salter, J Bailey, L Miller, C Crenshaw, D Goodwin, ... Journal of Cystic Fibrosis 22, S380-S381, 2023 | | 2023 |
| 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 | 98 | 2018 |
| Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs BA Moyers, JM Loupe, SA Felker, JMJ Lawlor, AG Anderson, ... bioRxiv, 2023 | | 2023 |
| Application of machine learning models to CFTR enhancer discovery JMJ Lawlor The University of Alabama in Huntsville, 2017 | | 2017 |
| 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 |
| 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 |
| 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 |
| E. Martina Bebin, 3 Tuula Rinne, 4 Marlies Kempers, 4 Rolph Pfundt, 4 Bregje W. van Bon, 4 Cyril Mignot, 5, 6, 7 Caroline Nava, 5, 8 Christel Depienne, 8, 9 Louisa Kalsner, 10 … SM Hiatt, ML Thompson, JW Prokop, JMJ Lawlor, DE Gray The American Journal of Human Genetics 104, 701-708, 2019 | | 2019 |
| eP122: The clinical significance of poisoned splicing variants in early-onset neurodevelopmental disorders S Felker, J Lawlor, D Latner, M Thompson, K Bowling, S Hiatt, C Finnila, ... Genetics in Medicine 24 (3), S76-S77, 2022 | | 2022 |
| eP141: Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies S Hiatt, J Lawlor, L Handley, Z Bonnstetter, J Jenkins, J Lovell, J Holt, ... Genetics in Medicine 24 (3), S87, 2022 | | 2022 |
| eP144: Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing J Holt, L Handley, J Lawlor, S Hiatt, G Cooper, J Grimwood, G Nakouzi Genetics in Medicine 24 (3), S89, 2022 | | 2022 |
| eP370: SouthSeq: Genome sequencing for a diverse population of hospitalized infants D Latner, K Bowling, M Thompson, C Finnila, S Hiatt, M Amaral, J Lawlor, ... Genetics in Medicine 24 (3), S233-S234, 2022 | | 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 |
| eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative B Korf, D Absher, I Asif, L Bateman, G Barsh, K Bowling, G Cooper, ... Genetics in Medicine 24 (3), S314-S315, 2022 | | 2022 |
| 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 | 28 | 2022 |
| Genome sequencing as a first-line diagnostic test for hospitalized newborns KM Bowling, ML Thompson, CR Finnila, SM Hiatt, DR Latner, MD Amaral, ... medRxiv, 2021.08. 31.21262633, 2021 | | 2021 |
| 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 | 31 | 2019 |
| 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 |
| 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 |
Greg CooperFaculty Investigator, HudsonAlpha Institute for Biotechnology在 hudsonalpha.org 的电子邮件经过验证
