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Germline Mutation of RPS20 , Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Gastroenterology (New York, N.Y. 1943), 2014-09, Vol.147 (3), p.595-598.e5

2014

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Updates in the field of hereditary nonpolyposis colorectal cancer

Expert review of gastroenterology & hepatology, 2020-08, Vol.14 (8), p.707-720

2020

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A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres

Thyroid (New York, N.Y.), 2020-02, Vol.30 (2), p.204-213

2020

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Reorganization of functionally connected brain subnetworks in high-functioning autism

Human brain mapping, 2016-03, Vol.37 (3), p.1066-1079

2016

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Physiological responses to affiliation during conversation: Comparing neurotypical males and males with Asperger syndrome

PloS one, 2019-09, Vol.14 (9), p.e0222084-e0222084

2019

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PDPR Gene Variants Predisposing to Papillary Thyroid Cancer

Thyroid (New York, N.Y.), 2024-05, Vol.34 (5), p.575-582

2024

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Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

Genetics in medicine, 2019-08, Vol.21 (8), p.1868-1873

2019

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Identification of Rare Variants Predisposing to Thyroid Cancer

Thyroid (New York, N.Y.), 2019-07, Vol.29 (7), p.946-955

2019

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CHEK2 Founder Variants and Thyroid Cancer Risk

Thyroid (New York, N.Y.), 2024-04, Vol.34 (4), p.477

2024

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Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia

Leukemia, 2023-11, Vol.37 (11), p.2301-2305

2023

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Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis

Journal of surgical oncology, 2016-02, Vol.113 (2), p.209-212

2016

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Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC , BRAF , and KTM2D

Thyroid (New York, N.Y.), 2020-03, Vol.30 (3), p.380-388

2020

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Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis

Genes chromosomes & cancer, 2014-10, Vol.53 (10), p.857-864

2014

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Constrained spherical deconvolution-based tractography and tract-based spatial statistics show abnormal microstructural organization in Asperger syndrome

Molecular autism, 2015-01, Vol.6 (1), p.4-4

2015

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations

Oncotarget, 2017-12, Vol.8 (64), p.108020-108030

2017

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Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer

Genes chromosomes & cancer, 2015-12, Vol.54 (12), p.776-787

2015

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Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

Breast cancer research : BCR, 2012-06, Vol.14 (3), p.R90-R90, Article R90

2012

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Molecular Analysis of Endometrial Tumorigenesis: Importance of Complex Hyperplasia Regardless of Atypia

Clinical cancer research, 2009-09, Vol.15 (18), p.5772-5783

2009

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Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis

Oncotarget, 2016-10, Vol.7 (43), p.70685-70698

2016

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A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1641-n/a

2021

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Distinct Genetic and Epigenetic Signatures of Colorectal Cancers According to Ethnic Origin

Cancer epidemiology, biomarkers & prevention, 2012, Vol.21 (1), p.202-211

2012

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BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

Gastroenterology (New York, N.Y. 1943), 2011-07, Vol.141 (1), p.e23-e26

2011

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Language Abilities of Children with Asperger Syndrome

Journal of autism and developmental disorders, 2008-09, Vol.38 (8), p.1574-1580

2008

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Analysis of four neuroligin genes as candidates for autism

European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1285-1292

2005

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Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents

Frontiers in oncology, 2022-10, Vol.12, p.870863-870863

2022

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Germline Mutation of RPS20 , Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Updates in the field of hereditary nonpolyposis colorectal cancer

A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres

Reorganization of functionally connected brain subnetworks in high-functioning autism

Physiological responses to affiliation during conversation: Comparing neurotypical males and males with Asperger syndrome

PDPR Gene Variants Predisposing to Papillary Thyroid Cancer

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

Identification of Rare Variants Predisposing to Thyroid Cancer

CHEK2 Founder Variants and Thyroid Cancer Risk

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia

Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis

Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC , BRAF , and KTM2D

Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis

Constrained spherical deconvolution-based tractography and tract-based spatial statistics show abnormal microstructural organization in Asperger syndrome

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations

Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

Molecular Analysis of Endometrial Tumorigenesis: Importance of Complex Hyperplasia Regardless of Atypia

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

Distinct Genetic and Epigenetic Signatures of Colorectal Cancers According to Ethnic Origin

BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

Language Abilities of Children with Asperger Syndrome

Analysis of four neuroligin genes as candidates for autism

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents

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