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G. Burzynski · SciRah

Researcher profile · Semantic Scholar

G. Burzynski

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G. Burzynski — researcher profile on SciRah

h-index: 18
Works: 38
Citations: 2,463

Most-cited papers

Hirschsprung disease, associated syndromes and genetics: a review
J. Amiel, E. Sproat-Emison, M. Garcia-Barcelo, F. Lantieri +20 more
2001Journal of Medical Genetics1,167 citations Open access
Semantic Scholar
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
E. Emison, M. Garcia-Barcelo, E. Grice, F. Lantieri +21 more
2010American Journal of Human Genetics244 citations Open access
Semantic Scholar
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
A. Brooks, A. Bertoli-Avella, G. Burzynski, G. Breedveld +13 more
2005American Journal of Human Genetics160 citations Open access
Semantic Scholar
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, K. Kilambi +21 more
2015American Journal of Human Genetics136 citations Open access
Semantic Scholar
Current concepts in RET-related genetics, signaling and therapeutics.
I. Plaza-Menacho, G. Burzynski, J. D. de Groot, B. Eggen +1 more
2006Trends in Genetics119 citations Open access
Semantic Scholar
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
I. Plaza-Menacho, R. Koster, A. M. van der Sloot, W. Quax +8 more
2005Cancer Research93 citations Open access
Semantic Scholar
Identifying candidate Hirschsprung disease-associated RET variants.
G. Burzynski, I. Nolte, Agnes Bronda, Krista K. Bos +8 more
2005American Journal of Human Genetics67 citations Open access
Semantic Scholar
Genetic Model System Studies of the Development of the ENS, Gut Motility and Hirschsprung's Disease
G. Burzynski, I. T. Shepherd, Hideki Enomoto
2009Neurogastroenterology and Motility66 citations Open access
Semantic Scholar
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
G. Burzynski, I. Nolte, J. Osinga, I. Ceccherini +7 more
2004European Journal of Human Genetics59 citations
Semantic Scholar
Fine mapping of the 9q31 Hirschsprung’s disease locus
Csm Tang, Y. Sribudiani, X. Miao, A. D. De Vries +12 more
2010Human Genetics47 citations Open access
Semantic Scholar
Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling
Yaping Liu, X. Phạm, Lilei Zhang, Pei-Lung Chen +11 more
2014G3: Genes, Genomes, Genetics46 citations Open access
Semantic Scholar
KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation
M. Alves, G. Burzynski, Jean-Marie Delalande, J. Osinga +9 more
2010Human Molecular Genetics44 citations Open access
Semantic Scholar
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
C. S. Tang, H. Gui, A. Kapoor, Jeong-Hyun Kim +28 more
2016Human Molecular Genetics43 citations Open access
Semantic Scholar
A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3
A. Brooks, P. Leegwater, G. Burzynski, P. Willems +6 more
2005Journal of Medical Genetics34 citations Open access
Semantic Scholar
Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis
M. Schlager, L. Kapitein, I. Grigoriev, G. Burzynski +7 more
2010EMBO Journal26 citations Open access
Semantic Scholar
Characterization of spatial and temporal expression pattern of SCG10 during zebrafish development
G. Burzynski, Jean-Marie Delalande, I. Shepherd
2009Gene Expression Patterns24 citations Open access
Semantic Scholar
University of Groningen Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
L. Petrova, E. Brosens, Colin Harrison, Tara D. Wabbersen +13 more
201821 citations
Semantic Scholar
Systematic elucidation and in vivo validation of sequences enriched in hindbrain transcriptional control
G. Burzynski, X. Reed, L. Taher, Zachary E. Stine +3 more
2012Genome Research21 citations Open access
Semantic Scholar
A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo
Anthony Antonellis, M. Dennis, G. Burzynski, Jimmy L. Huynh +10 more
2010PLoS ONE15 citations Open access
Semantic Scholar
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Y. Sribudiani, R. Chauhan, M. Alves, Lucy Petrova +16 more
2018Gastroenterology13 citations Open access
Semantic Scholar
Integration of genomic and functional approaches reveals enhancers at LMX1A and LMX1B
G. Burzynski, X. Reed, Samantha Maragh, Takeshi Matsui +1 more
2013Zeitschrift für Induktive Abstammungs- und Vererbungslehre8 citations Open access
Semantic Scholar
Hirschsprung disease , associated syndromes and genetics : a review
J. Amiel, E. Sproat-Emison, M. Garcia-Barcelo, F. Lantieri +20 more
20078 citations
Semantic Scholar
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
M. Garcia-Barceló, J. Amiel, G. Antiñolo, S. Borrego +15 more
20062 citations
Semantic Scholar
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
P. Tam, M. Garcia-Barceló, A. Tullio-Pelet, S. Lyonnet +14 more
20061 citations
Semantic Scholar
Chapter 2 RET-FMTC mutants Y 791 F and S 891 A activate a Src / JAK / STAT 3 pathway , independent of GDNF
I. Plaza-Menacho, R. Koster, A. M. van der Sloot, W. Quax +8 more
20061 citations
Semantic Scholar
Mutation in the RET genomic sequence between the transcription start site and exon 2 as a major contributor to the development of Hirschsprung disease.
R. Hofstra, G. Burzynski, Nolte, J. Osinga +6 more
20031 citations
Semantic Scholar
BASIC AND TRANSLATIONAL—ALIMENTARY TRACT Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
Yunia Chauhan, Rajendra K. Alves, M. Petrova, L. Brosens +20 more
20180 citations
Semantic Scholar
Supplementary fine mapping chr 9 Yunia Sribudiani
Csm Tang, Y. Sribudiani, X. Miao, A. D. De Vries +12 more
20160 citations
Semantic Scholar
Title Fine mapping of the 9 q 31 Hirschsprung ' s disease locus
Csm Tang, Y. Sribudiani, X. Miao, A. D. De Vries +12 more
20100 citations
Semantic Scholar
Microarray-based identification of differentially expressed genes in the intestines of Zebrafish ENS mutant lessen
I. Shepherd, G. Burzynski, L. Petrova, J. Ngai +1 more
20090 citations
Semantic Scholar
Goldberg-Shprintzen syndrome and microtubules
R. Hofstra, M. Alves, G. Burzynski, E. D. de Graaf +4 more
20090 citations
Semantic Scholar
Characterization of the Stathmin SCG10 and its interactions with Kinesin Binding Protein (KBP) in zebrafish
G. Burzynski, M. Alves, E. D. de Graaf, C. Hoogenraad +4 more
20090 citations
Semantic Scholar
Single worldwide origin for a common low-penetrance RET mutation in Hirschsprung disease (HSCR)
F. Lantieri, J. Amiel, G. Antiñolo, S. Borrego +13 more
20070 citations
Semantic Scholar
disease maps to 4q31.3-q32.3 A novel susceptibility locus for Hirschsprung's
P. Heutink, R. Hofstra, P. Leegwater, G. Burzynski +3 more
20060 citations
Semantic Scholar
Hirschsprung disease - genetics and development
G. Burzynski
20060 citations
Semantic Scholar
Current concepts in RET-related genetics and signalling
I. Plaza-Menacho, G. Burzynski, B. Eggen, R. Hofstra
20060 citations
Semantic Scholar
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung diseases
E. Emison, G. Burzynski, J. Amiel, S. Borrego +13 more
20050 citations
Semantic Scholar
Differential liabilities of coding and non-coding mutations in complex disease
G. Burzynski, J. Amiel, G. Antiñolo, S. Borrego +14 more
20050 citations
Semantic Scholar

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