A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk ES Emison, AS McCallion, CS Kashuk, RT Bush, E Grice, S Lin, ... Nature 434 (7035), 857-863, 2005 | 517 | 2005 |
A method to predict the impact of regulatory variants from DNA sequence D Lee, DU Gorkin, M Baker, BJ Strober, AL Asoni, AS McCallion, MA Beer Nature genetics 47 (8), 955-961, 2015 | 464 | 2015 |
Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis Y Xiang, ZE Stine, J Xia, Y Lu, RS O’Connor, BJ Altman, AL Hsieh, ... The Journal of clinical investigation 125 (6), 2293-2306, 2015 | 452 | 2015 |
Conservation of RET regulatory function from human to zebrafish without sequence similarity S Fisher, EA Grice, RM Vinton, SL Bessling, AS McCallion Science 312 (5771), 276-279, 2006 | 402 | 2006 |
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease MM Carrasquillo, AS McCallion, EG Puffenberger, CS Kashuk, N Nouri, ... Nature genetics 32 (2), 237-244, 2002 | 321 | 2002 |
Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA TN Turner, F Hormozdiari, MH Duyzend, SA McClymont, PW Hook, ... The American Journal of Human Genetics 98 (1), 58-74, 2016 | 313 | 2016 |
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm AJ Doyle, JJ Doyle, SL Bessling, S Maragh, ME Lindsay, D Schepers, ... Nature genetics 44 (11), 1249-1254, 2012 | 302 | 2012 |
Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish S Fisher, EA Grice, RM Vinton, SL Bessling, A Urasaki, K Kawakami, ... Nature protocols 1 (3), 1297-1305, 2006 | 295 | 2006 |
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability ES Emison, M Garcia-Barcelo, EA Grice, F Lantieri, J Amiel, G Burzynski, ... The American Journal of Human Genetics 87 (1), 60-74, 2010 | 274 | 2010 |
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway C Praetorius, C Grill, SN Stacey, AM Metcalf, DU Gorkin, KC Robinson, ... Cell 155 (5), 1022-1033, 2013 | 225 | 2013 |
Genomics of long-range regulatory elements JP Noonan, AS McCallion Annual review of genomics and human genetics 11, 1-23, 2010 | 216 | 2010 |
Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb AS McCallion, E Stames, RA Conlon, A Chakravarti Proceedings of the National Academy of Sciences 100 (4), 1826-1831, 2003 | 151 | 2003 |
kmer-SVM: a web server for identifying predictive regulatory sequence features in genomic data sets C Fletez-Brant, D Lee, AS McCallion, MA Beer Nucleic acids research 41 (W1), W544-W556, 2013 | 142 | 2013 |
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b DM McGaughey, RM Vinton, J Huynh, A Al-Saif, MA Beer, AS McCallion Genome research 18 (2), 252-260, 2008 | 140 | 2008 |
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability Q Jiang, S Arnold, T Heanue, KP Kilambi, B Doan, A Kapoor, AY Ling, ... The American Journal of Human Genetics 96 (4), 581-596, 2015 | 138 | 2015 |
EDNRB/EDN3 and Hirschsprung Disease Type II AS Mccallion, A Chakravarti Pigment Cell Research 14 (3), 161-169, 2001 | 136 | 2001 |
Mouse ES cell–derived cardiac precursor cells are multipotent and facilitate identification of novel cardiac genes N Christoforou, RA Miller, CM Hill, CC Jie, AS McCallion, JD Gearhart The Journal of clinical investigation 118 (3), 894-903, 2008 | 135 | 2008 |
Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish A Antonellis, JL Huynh, SQ Lee-Lin, RM Vinton, G Renaud, SK Loftus, ... PLoS genetics 4 (9), e1000174, 2008 | 129 | 2008 |
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm RA Gould, H Aziz, CE Woods, MA Seman-Senderos, E Sparks, C Preuss, ... Nature genetics 51 (1), 42-50, 2019 | 126 | 2019 |
Single-cell RNA-seq of mouse dopaminergic neurons informs candidate gene selection for sporadic Parkinson disease PW Hook, SA McClymont, GH Cannon, WD Law, AJ Morton, LA Goff, ... The American Journal of Human Genetics 102 (3), 427-446, 2018 | 118 | 2018 |