Author details

Full Name

Jeff Stevens

Affiliation

ORCID

Career Start Year

1989

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36916144	A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall-cell lung cancer.		2023
36433874	A likely HOXC4 predisposition variant for Chiari malformations.	Journal of Neurosurgery	2023
37046747	High-Risk Pedigree Study Identifies (rs62346982) as a Likely Predisposition Variant for Prostate Cancer.		2023
34151536	Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.	Alzheimers Dement	2022
33026655	A role for the MEGF6 gene in predisposition to osteoporosis.	Ann Hum Genet	2021
34063511	A Rare Variant in <i>ERF</i> (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree.	Cancers (Basel)	2021
33930674	An intronic variant in the CELF4 gene is associated with risk for colorectal cancer.	Cancer Epidemiology	2021
32644145	Genome-wide analysis of high-risk primary brain cancer pedigrees identifies PDXDC1 as a candidate brain cancer predisposition gene.	Neuro Oncol	2021
33118316	FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.	Mol Genet Genomic Med	2020
33099213	The HOXB13 p.Gly84Glu variant observed in an extended five generation high-risk prostate cancer pedigree supports risk association for multiple cancer sites.	Cancer Epidemiology	2020
32574725	Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.	Neurobiol Dis	2020
29659823	A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.	Hum Mol Genet	2018
29860498	A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.	Hum Mol Genet	2018
29570242	Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.	Birth Defects Res	2018
29659923	A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma.	J Natl Cancer Inst	2018
27603779	Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.	PLoS One	2016
24467814	Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.	Mol Autism	2014
23341896	Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.	PLoS One	2013
22337856	Exome analysis of a family with pleiotropic congenital heart disease.	Circ Cardiovasc Genet	2012
20522424	Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer.	J Med Genet	2010
18283277	A high-density SNP genome-wide linkage scan in a large autism extended pedigree.	Mol Psychiatry	2009
18721526	Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.	Am J Cardiol	2008
18313024	Neuropathy target esterase gene mutations cause motor neuron disease.	Am J Hum Genet	2008
18063416	American founder mutation for attenuated familial adenomatous polyposis.	Clin Gastroenterol Hepatol	2008
16391490	Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree.	Hum Hered	2005
14706645	Targeted degradation of beta-catenin by chimeric F-box fusion proteins.	Biochemical and Biophysical Research Communications	2004
11389840	Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein.	Molecular Cell	2001
8660969	Sequence, genomic structure, and chromosomal assignment of human DOC-2.	Genomics	1996
8824795	Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21.	Genomics	1996
7774960	Genomic organization of the neurofibromatosis 1 gene (NF1).	Genomics	1995
7590735	Isolation and mapping of a gene encoding a novel human ADP-ribosylation factor on chromosome 17q12-q21.	Genomics	1995
7951316	A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21.	Nature Genetics	1994
1639383	Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene.	Genomics	1992
1568247	Somatic mutations in the neurofibromatosis 1 gene in human tumors.	Cell	1992
1899288	The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene.	Molecular and Cellular Biology	1991
1684425	A BglII RFLP near the human neurofibromatosis type 1 (NF1) gene.	Nucleic Acids Res	1991
1678319	Identification of deletion mutations and three new genes at the familial polyposis locus.	Cell	1991
1651174	Identification and characterization of the familial adenomatous polyposis coli gene.	Cell	1991
1694727	Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.	Cell	1990
2117566	Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts.	Genomics	1990
2117565	The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.	Genomics	1990
2116237	The neurofibromatosis type 1 gene encodes a protein related to GAP.	Cell	1990
2114220	A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.	Cell	1990
2543077	Two NF1 translocations map within a 600-kilobase segment of 17q11.2.	Science	1989