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A. de la Chapelle · SciRah

Researcher profile · Semantic Scholar

A. de la Chapelle

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A. de la Chapelle — researcher profile on SciRah

h-index: 132
Works: 855
Citations: 79K

Most-cited papers

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
D. Le, J. Uram, Hao Wang, B. Bartlett +31 more
2015New England Journal of Medicine4,699 citations Open access
Semantic Scholar
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer
R. Pearlman, Wendy L. Frankel, Benjamin J. Swanson, Wei-Qiang Zhao +41 more
2017JAMA Oncology624 citations Open access
Semantic Scholar
Discovery of common and rare genetic risk variants for colorectal cancer
J. Huyghe, S. Bien, T. Harrison, H. Kang +195 more
2018Nature Genetics479 citations Open access
Semantic Scholar
Cancer Risks for PMS2-Associated Lynch Syndrome.
S. T. ten Broeke, H. M. van der Klift, C. Tops, S. Aretz +45 more
2018Journal of Clinical Oncology187 citations Open access
Semantic Scholar
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk.
Minta Thomas, L. Sakoda, M. Hoffmeister, E. Rosenthal +93 more
2020American Journal of Human Genetics176 citations Open access
Semantic Scholar
Cumulative Burden of Colorectal Cancer-Associated Genetic Variants is More Strongly Associated With Early-onset vs Late-onset Cancer
Alexi Archambault, Yu-Ru Su, J. Jeon, Minta Thomas +130 more
2019Gastroenterology160 citations Open access
Semantic Scholar
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer
H. Hampel, R. Pearlman, Mallory Beightol, Wei-Qiang Zhao +13 more
2018JAMA Oncology156 citations Open access
Semantic Scholar
A genome-wide association study yields five novel thyroid cancer risk loci
J. Gudmundsson, G. Thorleifsson, J. K. Sigurdsson, L. Stefánsdóttir +36 more
2017Nature Communications141 citations Open access
Semantic Scholar
Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study
C. Bull, Joshua A. Bell, N. Murphy, E. Sanderson +74 more
2020BMC Medicine136 citations Open access
Semantic Scholar
Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses
N. Murphy, R. Carreras-Torres, M. Song, A. Chan +80 more
2019Gastroenterology128 citations Open access
Semantic Scholar
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer
Wei Zhou, B. Brumpton, O. Kabil, J. Gudmundsson +52 more
2020Nature Communications119 citations Open access
Semantic Scholar
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
S. Haraldsdottir, T. Rafnar, W. Frankel, Sylvia O. Einarsdottir +23 more
2017Nature Communications111 citations Open access
Semantic Scholar
Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells
Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, A. Bick +31 more
2020Nature108 citations Open access
Semantic Scholar
Genetic predisposition to papillary thyroid carcinoma: involvement of FOXE1, TSHR, and a novel lincRNA gene, PTCSC2.
Huiling He, Wei Li, S. Liyanarachchi, J. Jendrzejewski +4 more
2015Journal of Clinical Endocrinology and Metabolism101 citations Open access
Semantic Scholar
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A
M. Bill, K. Mrózek, J. Kohlschmidt, Ann-Kathrin Eisfeld +12 more
2020Proceedings of the National Academy of Sciences of the United States of America99 citations Open access
Semantic Scholar
A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition
Jerneja Tomsic, Huiling He, K. Akagi, S. Liyanarachchi +6 more
2015Scientific Reports96 citations Open access
Semantic Scholar
Mutation patterns identify adult patients with de novo acute myeloid leukemia aged 60 years or older who respond favorably to standard chemotherapy: an analysis of Alliance studies
Ann-Kathrin Eisfeld, J. Kohlschmidt, K. Mrózek, J. Blachly +12 more
2018Leukemia88 citations Open access
Semantic Scholar
MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus
Yanqiang Wang, Huiling He, Wei Li, J. Phay +4 more
2017Proceedings of the National Academy of Sciences of the United States of America88 citations Open access
Semantic Scholar
Additional gene mutations may refine the 2017 European LeukemiaNet classification in adult patients with de novo acute myeloid leukemia aged <60 years
Ann-Kathrin Eisfeld, J. Kohlschmidt, Alice S. Mims, D. Nicolet +11 more
2020Leukemia86 citations Open access
Semantic Scholar
The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia
Ann-Kathrin Eisfeld, K. Mrózek, J. Kohlschmidt, D. Nicolet +12 more
2017Leukemia86 citations Open access
Semantic Scholar
Poor Survival and Differential Impact of Genetic Features of Black Patients with Acute Myeloid Leukemia
Bhavana Bhatnagar, J. Kohlschmidt, K. Mrózek, Qiu-Hong Zhao +19 more
2020Cancer Discovery74 citations Open access
Semantic Scholar
PTCSC3 Is Involved in Papillary Thyroid Carcinoma Development by Modulating S100A4 Gene Expression.
J. Jendrzejewski, A. Thomas, S. Liyanarachchi, Andrew Eiterman +7 more
2015Journal of Clinical Endocrinology and Metabolism73 citations Open access
Semantic Scholar
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome
R. Pearlman, S. Haraldsdottir, A. de la Chapelle, J. Jónasson +6 more
2019Journal of Medical Genetics66 citations Open access
Semantic Scholar
Variation in the Risk of Colorectal Cancer for Lynch Syndrome: A retrospective family cohort study
Aung Ko Win, J. Dowty, J. Reece, Grant Lee +208 more
2021The Lancet Oncology64 citations Open access
Semantic Scholar
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative
R. Pearlman, W. Frankel, Benjamin J. Swanson, Dan Jones +39 more
2021JCO Precision Oncology63 citations Open access
Semantic Scholar
PMS2 monoallelic mutation carriers: the known unknown
M. Goodenberger, Brittany C. Thomas, D. Riegert-Johnson, C. Boland +26 more
2015Genetics in Medicine61 citations Open access
Semantic Scholar
Genome-Wide Expression Screening Discloses Long Noncoding RNAs Involved in Thyroid Carcinogenesis.
S. Liyanarachchi, Wei Li, P. Yan, R. Bundschuh +5 more
2016Journal of Clinical Endocrinology and Metabolism56 citations Open access
Semantic Scholar
Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects
Xing-Yi Guo, Wei-Qiang Lin, W. Wen, J. Huyghe +83 more
2020Gastroenterology54 citations Open access
Semantic Scholar
NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome
Ann-Kathrin Eisfeld, J. Kohlschmidt, K. Mrózek, Alice S. Mims +13 more
2018Leukemia54 citations Open access
Semantic Scholar
Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia
Ann-Kathrin Eisfeld, J. Kohlschmidt, S. Schwind, D. Nicolet +15 more
2016Leukemia54 citations Open access
Semantic Scholar
Assessing thyroid cancer risk using polygenic risk scores
S. Liyanarachchi, J. Gudmundsson, E. Ferkingstad, Huiling He +17 more
2020Proceedings of the National Academy of Sciences of the United States of America49 citations Open access
Semantic Scholar
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, A. Bick +335 more
2020Nature44 citations Open access
Semantic Scholar
Identification of Rare Variants Predisposing to Thyroid Cancer
Yanqiang Wang, S. Liyanarachchi, K. Miller, T. Nieminen +9 more
2019Thyroid44 citations Open access
Semantic Scholar
Microsatellite Instability Occurs in a Subset of Follicular Thyroid Cancers
Luke K. Genutis, Jerneja Tomsic, R. Bundschuh, P. Brock +11 more
2019Thyroid44 citations Open access
Semantic Scholar
Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
S. Haraldsdottir, H. Hampel, Christina Wu, Daniel Y Weng +6 more
2016Genetics in Medicine42 citations Open access
Semantic Scholar
Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients
H. Hampel, R. Pearlman, A. de la Chapelle, C. Pritchard +16 more
2020Gynecologic Oncology40 citations Open access
Semantic Scholar
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study.
K. Tsilidis, N. Papadimitriou, N. Dimou, D. Gill +84 more
2021American Journal of Clinical Nutrition39 citations Open access
Semantic Scholar
Frequent PIK3CA Mutations in Colorectal and Endometrial Cancer with Double Somatic Mismatch Repair Mutations
Stacey A. Cohen, Emily H. Turner, Mallory Beightol, A. Jacobson +15 more
2016Gastroenterology37 citations Open access
Semantic Scholar
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres
Huiling He, Wei Li, Daniel F. Comiskey, S. Liyanarachchi +5 more
2020Thyroid36 citations Open access
Semantic Scholar
HABP2 G534E Variant in Papillary Thyroid Carcinoma
Jerneja Tomsic, Rebecca Fultz, S. Liyanarachchi, Huiling He +2 more
2016PLoS ONE35 citations Open access
Semantic Scholar
Gene expression signature predicts relapse in adult patients with cytogenetically normal acute myeloid leukemia.
Christopher J. Walker, K. Mrózek, H. Ozer, D. Nicolet +14 more
2021Blood Advances31 citations Open access
Semantic Scholar
Papillary Thyroid Carcinoma: Association Between Germline DNA Variant Markers and Clinical Parameters
J. Jendrzejewski, S. Liyanarachchi, Rebecca S. Nagy, L. Senter +9 more
2016Thyroid31 citations Open access
Semantic Scholar
The Role of NRG1 in the Predisposition to Papillary Thyroid Carcinoma
Huiling He, Wei Li, S. Liyanarachchi, Yanqiang Wang +7 more
2018Journal of Clinical Endocrinology and Metabolism28 citations Open access
Semantic Scholar
Mutational landscape and gene-expression patterns in adult acute myeloid leukemias with monosomy 7 as a sole abnormality
Ann-Kathrin Eisfeld, J. Kohlschmidt, K. Mrózek, S. Volinia +10 more
2016Cancer Research28 citations Open access
Semantic Scholar
Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D
T. Nieminen, Christopher J. Walker, A. Olkinuora, Luke K. Genutis +12 more
2020Thyroid27 citations Open access
Semantic Scholar
Identification of a Recurrent LMO7–BRAF Fusion in Papillary Thyroid Carcinoma
Huiling He, Wei Li, P. Yan, R. Bundschuh +6 more
2018Thyroid24 citations Open access
Semantic Scholar
Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia
Christopher J. Walker, J. Kohlschmidt, Ann-Kathrin Eisfeld, K. Mrózek +21 more
2019Clinical Cancer Research21 citations Open access
Semantic Scholar
Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA
Christopher J. Walker, C. Oakes, Luke K. Genutis, B. Giacopelli +18 more
2018Leukemia21 citations Open access
Semantic Scholar
Identification of NRAS isoform 2 overexpression as a mechanism facilitating BRAF inhibitor resistance in malignant melanoma
M. Duggan, Andrew Stiff, Maryam Bainazar, Kelly Regan +10 more
2017Proceedings of the National Academy of Sciences of the United States of America21 citations Open access
Semantic Scholar
Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry
Zachary A. Hurst, S. Liyanarachchi, Huiling He, P. Brock +15 more
2019Thyroid20 citations Open access
Semantic Scholar

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