B. Dombroski

发表

Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease

D. G. Clark, Charles D. Smith, Jason J. Corneveaux, 2011, Nature Genetics.

Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease

D. G. Clark, Charles D. Smith, Jason J. Corneveaux, 2011 .

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Stephen J. Guter, Emily L. Crawford, D. Pinto, 2014, American journal of human genetics.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Nick C Fox, Cory C. Funk, D. G. Clark, 2017, Nature Genetics.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Eden R Martin, Seth Love, Brian Lawlor, 2019, Nature Genetics.

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes

D. Housman, S. Antonarakis, J. McGrath, 2000, Molecular Psychiatry.

A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism

G. Dawson, G. Schellenberg, A. Hardan, 2014, Front. Genet..

Hydroxyl radical "footprinting": high-resolution information about DNA-protein contacts and application to lambda repressor and Cro protein.

B. Dombroski, T. Tullius, B A Dombroski, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer ' s disease

D. G. Clark, M. Fornage, A. Hofman, 2022 .

An in vivo assay for the reverse transcriptase of human retrotransposon L1 in Saccharomyces cerevisiae

J. Boeke, A. F. Scott, H. Kazazian, 1994, Molecular and cellular biology.

Translation of LINE-1 DNA elements in vitro and in human cells.

R. E. Thayer, B. Dombroski, T. Fanning, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Inferring the Molecular Mechanisms of Noncoding Alzheimer's Disease-Associated Genetic Variants.

Christopher D. Brown, G. Schellenberg, Li-San Wang, 2019, Journal of Alzheimer's disease : JAD.

Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study. Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6 and 8.

L. Siever, M. Daly, T. Sigmundsson, 1996, American journal of medical genetics.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

J. Gallacher, M. Fornage, I. Giegling, 2018, bioRxiv.

A comparative study of structural variant calling strategies using the Alzheimer’s Disease Sequencing Project’s whole genome family data

Nancy R. Zhang, G. Schellenberg, K. Worley, 2022, bioRxiv.

Autism risk assessment in siblings of affected children using sex-specific genetic scores

G. Dawson, G. Schellenberg, E. Génin, 2011, Molecular autism.

High copy wildtype human 1N4R tau expression promotes early pathological tauopathy accompanied by cognitive deficits without progressive neurofibrillary degeneration

G. Schellenberg, J. Trojanowski, M. Dichter, 2015, Acta neuropathologica communications.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.

G. Schellenberg, D. Galasko, I. Mata, 2013, JAMA neurology.

Iron(II) EDTA used to measure the helical twist along any DNA molecule.

B. Dombroski, T. Tullius, 1985, Science.

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

C. Stefanis, A. Chakravarti, D. Housman, 1998, Nature Genetics.

Inferring the molecular mechanisms of noncoding Alzheimer’s disease-associated genetic variants

Christopher D. Brown, G. Schellenberg, Li-San Wang, 2018, bioRxiv.

Many human L1 elements are capable of retrotransposition

J. V. Moran, R. Deberardinis, H. Kazazian, 1997, Nature Genetics.

Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element.

A. F. Scott, H. Kazazian, B. Dombroski, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Michelle K. Lupton, D. Geschwind, J. Haines, 2012, Human molecular genetics.

No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.

D. Housman, G. Nestadt, A. Pulver, 1999, American journal of medical genetics.

Fine mapping of genetic susceptibility to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity

M. Urbanek, R. Spielman, K. Ewens, 2006 .

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

H. Kazazian, C. Boehm, B. Dombroski, 1994, Nature Genetics.

Isolation of an active human transposable element.

A. F. Scott, H. Kazazian, E. Nanthakumar, 1991, Science.

Hydroxyl radical footprinting: a high-resolution method for mapping protein-DNA contacts.

M. Churchill, B. Dombroski, T. Tullius, 1987, Methods in enzymology.

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region.

Paul K Crane, Richard Mayeux, Kathryn L Lunetta, 2012, Archives of neurology.

Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.

R. Spielman, V. Cheung, K. Ewens, 2010, American journal of human genetics.

Hydroxyl radical footprinting.

J. Hayes, B. Dombroski, T. Tullius, 1991, Methods in enzymology.

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

K. Lunetta, H. Hakonarson, J. Buxbaum, 2010, Archives of neurology.

TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy

G. Schellenberg, A. Burlingame, D. Dickson, 2021, Science advances.

TSC1 loss-of-function increases risk for tauopathy by inducing tau acetylation and preventing autophagy-mediated tau clearance

G. Schellenberg, A. Burlingame, J. Yokoyama, 2020 .

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Murray Grossman, Jordan Grafman, Nilüfer Ertekin-Taner, 2015, Nature Communications.

Schizophrenia susceptibility and chromosome 6p24–22

J. Ott, D. Housman, S. Antonarakis, 1995, Nature Genetics.

Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32:

A. Chakravarti, D. Housman, S. Antonarakis, 1996 .

The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes.

D. Housman, S. Antonarakis, M. Karayiorgou, 1996, Cold Spring Harbor symposia on quantitative biology.

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

D. G. Clark, C. Carlson, K. Lunetta, 2015, JAMA neurology.

High copy wildtype human 1N4R tau expression promotes early pathological tauopathy accompanied by cognitive deficits without progressive neurofibrillary degeneration

G. Schellenberg, J. Trojanowski, M. Dichter, 2015, Acta neuropathologica communications.

Fine mapping of genetic susceptibility to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity.

M. Urbanek, R. Spielman, K. Ewens, 2007, The Journal of clinical endocrinology and metabolism.

Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90

Benjamin A. Logsdon, Cory C. Funk, John C. Earls, 2022, Scientific Reports.

Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

G. Schellenberg, J. Hardy, A. Levey, 2020, Neurobiology of Disease.

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Derek J Van Booven, J. Gilbert, M. Cuccaro, 2016, Neurology: Genetics.

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

Margaret A. Pericak-Vance, John X. Morris, Jonathan L. Haines, 2012, Neurology.

Association of Common and Rare Variants with Alzheimer’s Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer’s Disease Sequencing Project

Xiaoling, M. Fornage, J. Haines, 2023, medRxiv.

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Derek J Van Booven, M. Cuccaro, J. Haines, 2016, Neurology: Genetics.

Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects

G. Schellenberg, B. Vardarajan, B. Dombroski, 2023, medRxiv.

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

John X. Morris, Jason J. Corneveaux, Asha A. Nair, 2012, Neurology.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genetic, Nick C Fox, Michelle K. Lupton, 2019, Nature Genetics.

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

K. Lunetta, H. Hakonarson, J. Buxbaum, 2010, Archives of neurology.

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK, GRB14, and KIAA0825 as novel risk loci for Alzheimer disease: the Alzheimer Disease Genetics Consortium

John X. Morris, Nicholas R. Wheeler, Timothy J. Hohman, 2023, medRxiv.

Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer’s Diseases Sequencing Project Subjects

B. Vardarajan, B. Dombroski, Y. Leung, 2023, Research Square.

Pavel P. Kuksa, Nicholas R. Wheeler, Timothy J. Hohman, 2023, medRxiv.

Hydroxyl radical "footprinting": high-resolution information about DNA-protein contacts and application to lambda repressor and Cro protein.

B. Dombroski, T. Tullius, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy

L. Hazrati, B. Ghetti, M. Gearing, 2023, medRxiv.

A comparative study of structural variant calling in WGS from Alzheimer’s disease families

K. Worley, O. Valladares, B. Dombroski, 2024, Life Science Alliance.

Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

L. Hazrati, B. Ghetti, C. Troakes, 2024, Molecular neurodegeneration.