Shen Gu
Shen Gu
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Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ...
The Journal of clinical investigation 125 (2), 636-651, 2015
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...
The American Journal of Human Genetics 99 (4), 831-845, 2016
Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway
X Chen, S Gu, BF Chen, WL Shen, Z Yin, GW Xu, JJ Hu, T Zhu, G Li, ...
Biomaterials 53, 239-250, 2015
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ...
Nucleic acids research 45 (4), 1633-1648, 2017
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ...
BMC medical genomics 9, 1-14, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
MR Bekheirnia, N Bekheirnia, MN Bainbridge, S Gu, ZH Coban Akdemir, ...
Genetics in Medicine 19 (4), 412-420, 2017
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
S Gu, BO Yuan, IM Campbell, CR Beck, CMB Carvalho, SCS Nagamani, ...
Human molecular genetics 24 (14), 4061-4077, 2015
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements
X Song, CR Beck, R Du, IM Campbell, Z Coban-Akdemir, S Gu, ...
Genome Research 28 (8), 1228-1242, 2018
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance
D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ...
The American Journal of Human Genetics 105 (1), 132-150, 2019
Whole-exome sequencing in familial Parkinson disease
JL Farlow, LA Robak, K Hetrick, K Bowling, E Boerwinkle, ...
JAMA neurology 73 (1), 68-75, 2016
Flexible and versatile as a chameleon—sophisticated functions of microRNA-199a
S Gu, WY Chan
International journal of molecular sciences 13 (7), 8449-8466, 2012
microRNA-199a-3p, DNMT3A, and aberrant DNA methylation in testicular cancer
BF Chen, S Gu, YK Suen, L Li, WY Chan
Epigenetics 9 (1), 119-128, 2014
A miR-199a/miR-214 self-regulatory network via PSMD10, TP53 and DNMT1 in testicular germ cell tumor
BF Chen, YK Suen, S Gu, L Li, WY Chan
Scientific reports 4 (1), 6413, 2014
Genetic architecture of laterality defects revealed by whole exome sequencing
AH Li, NA Hanchard, M Azamian, LCA D’Alessandro, Z Coban-Akdemir, ...
European Journal of Human Genetics 27 (4), 563-573, 2019
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
MK Eldomery, ZC Akdemir, FN Vögtle, WL Charng, P Mulica, ...
Genome Medicine 8, 1-13, 2016
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
AV Dharmadhikari, R Ghosh, BO Yuan, P Liu, H Dai, S Al Masri, J Scull, ...
Genome medicine 11, 1-17, 2019
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
Mechanisms for complex chromosomal insertions
S Gu, P Szafranski, ZC Akdemir, B Yuan, ML Cooper, MA Magrińá, ...
PLoS Genetics 12 (11), e1006446, 2016
Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death
PM Boone, B Yuan, S Gu, Z Ma, T Gambin, C Gonzaga‐Jauregui, M Jain, ...
Molecular genetics & genomic medicine 4 (1), 77-94, 2016
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