Följ
Andrew McCallion
Andrew McCallion
Johns Hopkins University, School of Medicine
Verifierad e-postadress på jhmi.edu
Titel
Citeras av
Citeras av
År
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
5162005
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
4592015
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
4422015
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
4012006
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
3212002
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
3102016
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
2982012
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
2942006
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
2732010
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
2232013
Genomics of long-range regulatory elements
JP Noonan, AS McCallion
Annual review of genomics and human genetics 11, 1-23, 2010
2152010
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
1512003
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
1412013
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
1402008
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
1372015
EDNRB/EDN3 and Hirschsprung Disease Type II
AS Mccallion, A Chakravarti
Pigment Cell Research 14 (3), 161-169, 2001
1362001
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
1342008
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
1282008
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
1242019
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
1162018
Systemet kan inte utföra åtgärden just nu. Försök igen senare.
Artiklar 1–20