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J

James M.J. Lawlor

University of Alabama System

13H-index
48Paper Count
658Citation Count
Published Papers 18
Publication Date
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs
err2024-08-16
err0
PREAI
errAnderson, Ashlyn G.; Moyers, Belle A.; Loupe, Jacob M.; Rodriguez-Nunez, Ivan; Felker, Stephanie A.; Lawlor, James M. J.; Bunney, William E.; Bunney, Blynn G.; Cartagena, Preston M.; Sequeira, Adolfo; Watson, Stanley J.; Akil, Huda; Mendenhall, Eric M.; Cooper, Gregory M.; Myers, Richard M.
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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
err2023-08-01
err4
errOAAI
errFelker, Stephanie A.; Lawlor, James M. J.; Hiatt, Susan M.; Thompson, Michelle L.; Latner, Donald R.; Finnila, Candice R.; Bowling, Kevin M.; Bonnstetter, Zachary T.; Bonini, Katherine E.; Kelly, Nicole R.; V. Kelley, Whitley; Hurst, Anna C. E.; Rashid, Salman; Kelly, Melissa A.; Nakouzi, Ghunwa; Hendon, Laura G.; Bebin, E. Martina; Kenny, Eimear E.; Cooper, Gregory M.
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Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
err2023-06-21
err3
errOAAI
errLemke, Amy A.; Thompson, Michelle L.; Gimpel, Emily C.; McNamara, Katelyn C.; Rich, Carla A.; Finnila, Candice R.; Cochran, Meagan E.; Lawlor, James M. J.; East, Kelly M.; Bowling, Kevin M.; Latner, Donald R.; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley V.; Greve, Veronica; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; Hughes, Trent; Williams, Heather; Laborde, Kelly; Neu, Matthew B.; Patrick-Esteve, Jessica; Hurst, Anna C. E.; Kirmse, Brian M.; Savich, Renate; Spedale, Steven B.; Knight, Sara J.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.; Brothers, Kyle B.
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Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience
err2022-07-01
err6
errOAAI
errMuenzen, Kathleen D.; Amendola, Laura M.; Kauffman, Tia L.; Mittendorf, Kathleen F.; Bensen, Jeannette T.; Chen, Flavia; Green, Richard; Powell, Bradford C.; Kvale, Mark; Angelo, Frank; Farnan, Laura; Fullerton, Stephanie M.; Robinson, Jill O.; Li, Tianran; Murali, Priyanka; Lawlor, James M. J.; Ou, Jeffrey; Hindorff, Lucia A.; Jarvik, Gail P.; Crosslin, David R.
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Genome sequencing as a first-line diagnostic test for hospitalized infants
err2022-04-01
err29
errOAAI
errBowling, Kevin M.; Thompson, Michelle L.; Finnila, Candice R.; Hiatt, Susan M.; Latner, Donald R.; Amaral, Michelle D.; Lawlor, James M. J.; East, Kelly M.; Cochran, Meagan E.; Greve, Veronica; Kelley, Whitley, V; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew B.; Patrick-Esteve, Jessica; Hurst, Anna C. E.; Kandasamy, Jegen; Carlo, Wally; Brothers, Kyle B.; Kirmse, Brian M.; Savich, Renate; Superneau, Duane; Spedale, Steven B.; Knight, Sara J.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.
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Parental impact of genome sequencing during the neonatal period
err2022-03-01
err0
errOAAI
errBrothers, Kyle; Rich, Carla; Gimpel, Emily; East, Kelly; Cochran, Meagan; Greve, Veronica; Kelley, Whitley V.; Jackson, Kelly; Hendon, Laura; Luedecke, Amanda; Janani, Hillary; Meddaugh, Hannah; Latner, Donald; Bowling, Kevin; Thompson, Michelle; Finnila, Candice; Hiatt, Susan; Amaral, Michelle; Lawlor, James; Gray, David; Felker, Stephanie; Cannon, Ashley; Johnston, Marla; Merin, Lee Ann; Deans, Sarah; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew; Patrick-Esteve, Jessica; Hurst, Anna; Kandasamy, Jegen; Carlo, Waldemar; Kirmse, Brian; Savich, Renate; Superneau, Duane; Spedale, Steven; Knight, Sara; Barsh, Gregory; Korf, Bruce; Cooper, Gregory
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Integration of genomics into primary care via the Alabama Genomic Health Initiative
err2022-03-01
err0
errOAAI
errKorf, Bruce; Absher, Devin; Asif, Irfan; Bateman, Lori; Barsh, Gregory; Bowling, Kevin; Cooper, Gregory; Davis, Brittney; East, Kelly; Finnila, Candice; Goff, Blake; Kelly, Melissa; Kelley, Whitley; Latner, Donald; Lawlor, James; Limdi, Nita; May, Thomas; Might, Matthew; Moss, Irene; Nakano, Mariko; Osborne, Tiffany; Sodeke, Stephen; Stout, Adriana; Thompson, Michelle
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The clinical significance of poisoned splicing variants in early-onset neurodevelopmental disorders
err2022-03-01
err0
errOAAI
errFelker, Stephanie; Lawlor, James; Latner, Donald; Thompson, Michelle; Bowling, Kevin; Hiatt, Susan; Finnila, Candice; Cooper, Gregory
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Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies
err2022-03-01
err0
errOAAI
errHiatt, Susan; Lawlor, James; Handley, Lori; Bonnstetter, Zachary; Jenkins, Jerry; Lovell, John; Holt, James; Finnila, Candice; Thompson, Michelle; Latner, Donald; Partridge, Christopher; Plott, Christopher; Boston, Lori Beth; Williams, Melissa; Bowling, Kevin; Grimwood, Jane; Schmutz, Jeremy; Cooper, Gregory
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Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing
err2022-03-01
err0
errOAAI
errHolt, James; Handley, Lori; Lawlor, James; Hiatt, Susan; Cooper, Gregory; Grimwood, Jane; Nakouzi, Ghunwa
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SouthSeq: Genome sequencing for a diverse population of hospitalized infants
err2022-03-01
err0
errOAAI
errLatner, Donald; Bowling, Kevin; Thompson, Michelle; Finnila, Candice; Hiatt, Susan; Amaral, Michelle; Lawlor, James; East, Kelly; Cochran, Meagan; Greve, Veronica; Kelley, Whitley V.; Gray, David; Felker, Stephanie; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly; Hendon, Laura; Janani, Hillary; Johnston, Marla; Merin, Lee Ann; Deans, Sarah; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew; Patrick-Esteve, Jessica; Hurst, Anna; Kandasamy, Jegen; Carlo, Waldemar; Brothers, Kyle; Kirmse, Brian; Savich, Renate; Superneau, Duane; Spedale, Steven; Knight, Sara; Barsh, Gregory; Korf, Bruce; Cooper, Gregory
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Patient and family experience of telehealth care delivery as part of the CF chronic care model early in the COVID-19 pandemic
err2021-12-01
err27
errOAAI
errSolomon, George M.; Bailey, Julianna; Lawlor, James; Scalia, Peter; Sawicki, Gregory S.; Dowd, Christopher; Sabadosa, Kathryn A.; Van Citters, Aricca
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Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
err2021-04-01
err33
errOAAI
errHiatt, Susan M.; Lawlor, James M. J.; Handley, Lori H.; Ramaker, Ryne C.; Rogers, Brianne B.; Partridge, E. Christopher; Boston, Lori Beth; Williams, Melissa; Plott, Christopher B.; Jenkins, Jerry; Gray, David E.; Holt, James M.; Bowling, Kevin M.; Bebin, E. Martina; Grimwood, Jane; Schmutz, Jeremy; Cooper, Gregory M.
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Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls
err2021-02-01
err8
errOAAI
errBowling, Kevin M.; Thompson, Michelle L.; Gray, David E.; Lawlor, James M. J.; Williams, Kelly; East, Kelly M.; Kelley, Whitley V.; Moss, Irene P.; Absher, Devin M.; Partridge, E. Christopher; Hurst, Anna C. E.; Edberg, Jeffrey C.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.
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Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis
err2020-07-30
err8
errOAAI
errSanders, Morgan; Lawlor, James M. J.; Li, Xiaopeng; Schuen, John N.; Millard, Susan L.; Zhang, Xi; Buck, Leah; Grysko, Bethany; Uhl, Katie L.; Hinds, David; Stenger, Cynthia L.; Morris, Michele; Lamb, Neil; Levy, Hara; Bupp, Caleb; Prokop, Jeremy W.
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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
err2019-04-01
err18
errOAAI
errHiatt, Susan M.; Thompson, Michelle L.; Prokop, Jeremy W.; Lawlor, James M. J.; Gray, David E.; Bebin, E. Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W.; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M.; McWalter, Kirsty; Cooper, Gregory M.
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Genomic sequencing identifies secondary findings in a cohort of parent study participants
err2018-12-01
err24
errOAAI
errThompson, Michelle L.; Finnila, Candice R.; Bowling, Kevin M.; Brothers, Kyle B.; Neu, Matthew B.; Amaral, Michelle D.; Hiatt, Susan M.; East, Kelly M.; Gray, David E.; Lawlor, James M. J.; Kelley, Whitley V.; Lose, Edward J.; Rich, Carla A.; Simmons, Shirley; Levy, Shawn E.; Myers, Richard M.; Barsh, Gregory S.; Bebin, E. Martina; Cooper, Gregory M.
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
err2018-12-01
err101
errOAAI
errCarvill, Gemma L.; Engel, Krysta L.; Ramamurthy, Aishwarya; Cochran, J. Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L.; Hollingsworth, Georgie; Holder, Dylan H.; Regan, Brigid M.; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E. Martina; Nguyen, John; Barsh, Gregory S.; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel E.; De Jonghe, Peter; Scheffer, Ingrid E.; Myers, Richard M.; Cooper, Gregory M.; Mefford, Heather C.
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