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Sohela Shah · SciRah

Researcher profile · Semantic Scholar

Sohela Shah

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Sohela Shah — researcher profile on SciRah

h-index: 13
Works: 31
Citations: 966

Most-cited papers

Identification of a recurrent germline PAX5 mutation and susceptibility to pre-B cell acute lymphoblastic leukemia
Sohela Shah, K. Schrader, E. Waanders, A. Timms +66 more
2013Nature Genetics289 citations Open access
Semantic Scholar
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
M. M. Gaudet, Karoline B. Kuchenbaecker, J. Vijai, R. Klein +122 more
2013PLoS Genetics130 citations Open access
Semantic Scholar
GENETIC DEFECTS IN BILE ACID CONJUGATION CAUSE FAT-SOLUBLE VITAMIN DEFICIENCY
K. Setchell, J. Heubi, Sohela Shah, J. Lavine +13 more
2013Gastroenterology111 citations Open access
Semantic Scholar
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
F. Couch, M. Gaudet, A. Antoniou, S. Ramus +186 more
2012Cancer Epidemiology, Biomarkers and Prevention63 citations Open access
Semantic Scholar
Susceptibility Loci Associated with Specific and Shared Subtypes of Lymphoid Malignancies
J. Vijai, T. Kirchhoff, K. Schrader, Jennifer R. Brown +21 more
2013PLoS Genetics54 citations Open access
Semantic Scholar
Rare variants in XRCC2 as breast cancer susceptibility alleles
F. Hilbers, J. Wijnen, N. Hoogerbrugge, J. Oosterwijk +19 more
2012Journal of Medical Genetics49 citations Open access
Semantic Scholar
Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
Roxana Daneshjou, Yan-Ran Wang, Y. Bromberg, Samuele Bovo +47 more
2017Human Mutation44 citations Open access
Semantic Scholar
Assessment of SLX4 Mutations in Hereditary Breast Cancers
Sohela Shah, Yonghwan Kim, I. Ostrovnaya, R. Murali +12 more
2013PLoS ONE42 citations Open access
Semantic Scholar
Babesia microti Primarily Invades Mature Erythrocytes in Mice
I. Borggraefe, Jie Yuan, S. Telford, Sanjay R. Menon +6 more
2006Infection and Immunity36 citations
Semantic Scholar
CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops
Sohela Shah, L. Conlin, Luis M. Gómez, Ø. Aagenaes +6 more
2013PLoS ONE35 citations Open access
Semantic Scholar
Rare de novo germline copy-number variation in testicular cancer.
Z. Stadler, D. Esposito, Sohela Shah, J. Vijai +21 more
2012American Journal of Human Genetics24 citations Open access
Semantic Scholar
Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping
L. Bull, D. Hu, Sohela Shah, Luisa Temple +10 more
2015PLoS ONE21 citations Open access
Semantic Scholar
Strain Background Modifies Phenotypes in the ATP8B1-Deficient Mouse
Sohela Shah, Ukina R. Sanford, J. C. Vargas, Hongmei Xu +7 more
2010PLoS ONE17 citations Open access
Semantic Scholar
Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer
S. Alanee, Sohela Shah, J. Vijai, K. Schrader +6 more
2013Familial Cancer11 citations Open access
Semantic Scholar
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases
Andreas Krämer, Sohela Shah, R. Rebres, Susan Tang +1 more
2017BMC Genomics10 citations Open access
Semantic Scholar
Lessons from the CAGI-4 Hopkins clinical panel challenge
J. Chandonia, Aashish N. Adhikari, Marco Carraro, A. Chhibber +16 more
2017Human Mutation8 citations Open access
Semantic Scholar
Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
K. Schrader, K. Stratton, R. Murali, Y. Laitman +24 more
2016Journal of Clinical Oncology8 citations
Semantic Scholar
Empowered genome community: leveraging a bioinformatics platform as a citizen–scientist collaboration tool
Katherine V. Wendelsdorf, Sohela Shah
2015Applied and Translational Genomics5 citations Open access
Semantic Scholar
Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier
S. Alanee, Sohela Shah, R. Murali, Rohini Rau-Murthy +2 more
2012Familial Cancer4 citations Open access
Semantic Scholar
Evaluating the association of multiple single nucleotide polymorphisms with response to gemcitabine and platinum combination chemotherapy in urothelial carcinoma of the bladder .
S. Alanee, Sohela Shah, E. Zabor, J. Vijai +7 more
2017International journal of clinical pharmacology and therapeutics2 citations
Semantic Scholar
Better bioinformatics will help labs manage genetic testing.
Sohela Shah
2017MLO: medical laboratory observer1 citations
Semantic Scholar
UvA-DARE ( Digital Academic Repository ) Strain background modifies phenotypes in the ATP 8 B 1-deficient mouse
Sohela Shah, Ukina R. Sanford, J. C. Vargas, Hongmei Xu +8 more
20101 citations
Semantic Scholar
University of Groningen Identification of a BRCA 2-Specific Modifier Locus at 6 p 24 Related to Breast Cancer
M. Gaudet, Karoline B. Kuchenbaecker, J. Vijai, R. Klein +116 more
20170 citations
Semantic Scholar
Identification of a recurrent germline PAX5 mutation and susceptibility to pre-B cell acute lymphoblastic leukemia
Charles Mullighan@stjude, Contributions K. O., K. O. K. O. Contributed Reagents, St. Jude +70 more
20140 citations
Semantic Scholar
Association of germ-line single nucleotide polymorphisms (SNPs) with pathologic response to neoadjuvant cisplatin-based chemotherapy in patients with resectable non-small cell lung cancers.
J. Chaft, Sohela Shah, E. Drill, C. Sima +7 more
20130 citations
Semantic Scholar
915 EXOME SEQUENCING OF EXTREME PHENOTYPES TO IDENTIFY VARIANTS PREDICTIVE OF RESPONSE TO CHEMOTHERAPY IN BLADDER CANCER
S. Alanee, Sohela Shah, K. Stratton, I. Garcia-Grossman +6 more
20130 citations
Semantic Scholar
Identification of the nonsense SLX4 variant and evaluation of pathogenicity of the SLX4 variants by complementation assay.
Sohela Shah, Yonghwan Kim, I. Ostrovnaya, R. Murali +12 more
20130 citations Open access
Semantic Scholar
Genome sequencing of multiple primary tumors to reveal underlying germline cancer susceptibility.
K. Schrader, K. Stratton, R. Murali, Y. Laitman +16 more
20130 citations
Semantic Scholar
Exome sequencing of extreme phenotypes to identify variants predictive of response to chemotherapy in bladder cancer.
Shaheen Alanee, Sohela Shah, K. Stratton, I. Garcia-Grossman +6 more
2013Journal of Clinical Oncology0 citations
Semantic Scholar
Molecular Oncology: Genome-wide association studies of cancer predisposition
Z. Stadler, Sohela Shah, K. Offit
20130 citations
Semantic Scholar
Abstract 2600:SLX4mutation in hereditary breast cancer
Sohela Shah, Francis P. Lach, Yonghwan Kim, Kara Sarrel +7 more
20120 citations
Semantic Scholar

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K. Offit×20
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J. Vijai×13
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Rohini Rau-Murthy×11
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Kara Sarrel — researcher profile on SciRah

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Z. Stadler — researcher profile on SciRah

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