Publications by authors named "Gerard D Schellenberg"

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Polygenic hazard scores in preclinical Alzheimer disease.
Ann Neurol 2017 Sep;82(3):484-488
Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA.






Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.
Alzheimers Dement 2017 Feb 20;13(2):119-129. Epub 2016 Oct 20.
Department of Neurology, Boston University School of Medicine, Boston, MA, USA; Alzheimer's Disease and CTE Center, Boston University School of Medicine, Boston, MA, USA; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA.


Age-dependent effects of APOE ε4 in preclinical Alzheimer's disease.
Ann Clin Transl Neurol 2016 Sep 26;3(9):668-77. Epub 2016 Aug 26.
Memory and Aging Center Department of Neurology University of California, San Francisco San Francisco California.



ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.
Neurol Genet 2016 Jun 17;2(3):e79. Epub 2016 May 17.
John P. Hussman Institute for Human Genomics (H.N.C., B.W.K., S.R., K.L.H.-N., M.A.K., P.L.W., D.V.B., D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., J.M.V., M.A.P.-V.), Dr. John T. Macdonald Foundation Department of Human Genetics (D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C.), Miller School of Medicine, University of Miami, FL; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., R.M.), Gertrude H. Sergievsky Center, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Laboratory Medicine (B.A.D., G.D.S.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Department of Biology (R.L., G.S.B., M.A.P.-V.), North Carolina A&T State University, Greensboro, NC; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, MA; and Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH.



Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.
Neurol Genet 2016 Feb 14;2(1):e41. Epub 2016 Jan 14.
John P. Hussman Institute for Human Genomics (M.A.K., H.N.C., K.L.H.-N., S.R., B.W.K., P.L.W., S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., S.L.Z., J.M.V., M.A.P.-V.), and Dr. John T. Macdonald Foundation Department of Human Genetics (S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., M.A.P.-V.), University of Miami, Miller School of Medicine, Miami, FL; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, Boston, MA; Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH; and Department of Pathology and Laboratory Medicine (G.D.S.), University of Pennsylvania School of Medicine, Philadelphia, PA.

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
Alzheimers Dement 2016 Jan 11;12(1):2-10. Epub 2015 Sep 11.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease.
Alzheimers Dement 2015 Dec 1;11(12):1397-1406. Epub 2015 Oct 1.
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA; Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA; Department of Neurology, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Department of Epidemiology, School of Public Health, Columbia University, New York, NY, USA. Electronic address:






Rarity of the Alzheimer disease-protective APP A673T variant in the United States.
JAMA Neurol 2015 Feb;72(2):209-16
Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.


Tau-mediated NMDA receptor impairment underlies dysfunction of a selectively vulnerable network in a mouse model of frontotemporal dementia.
J Neurosci 2014 Dec;34(49):16482-95
Center for Neurodegeneration and Experimental Therapeutics, Departments of Neurology and Neurobiology, Medical Scientist Training Program, University of Alabama at Birmingham, Birmingham, Alabama 35294, and

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.
JAMA Neurol 2014 Nov;71(11):1394-404
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

Synaptic, transcriptional and chromatin genes disrupted in autism.
Nature 2014 Nov 29;515(7526):209-15. Epub 2014 Oct 29.

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.
Ann Neurol 2014 Sep 29;76(3):379-92. Epub 2014 Jul 29.
Departments of Medicine, Boston University School of Medicine, Boston, MA; Ophthalmology, Boston University School of Medicine, Boston, MA; Department of Biostatistics, Boston University School of Public Health, Boston, MA.

A framework for the interpretation of de novo mutation in human disease.
Nat Genet 2014 Sep 3;46(9):944-50. Epub 2014 Aug 3.
1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.


Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.
Neurobiol Aging 2014 Jun 2;35(6):1473-82. Epub 2013 Dec 2.
Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Penn Frontotemporal Degeneration Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.


Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:



DRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experiments.
Bioinformatics 2013 Oct 13;29(19):2498-500. Epub 2013 Aug 13.
Department of Pathology and Laboratory Medicine and Institute for Biomedical Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA, Department of Physics, University of Washington, Seattle, WA 98105, USA, Genomics and Computational Biology Graduate Group, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA and Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.
The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

Incidence rates of dementia, Alzheimer disease, and vascular dementia in the Japanese American population in Seattle, WA: the Kame Project.
Alzheimer Dis Assoc Disord 2014 Jan-Mar;28(1):23-9
*Department of Epidemiology and Biostatistics, College of Public Health, University of South Florida, Tampa, FL †Multiple Sclerosis Center, Swedish Neuroscience Institute and University of Washington Medical Center ‡Division of Gerontology and Geriatric Medicine, University of Washington Harborview Medical Center ∥Psychosocial and Community Health, School of Nursing, University of Washington #Group Health Research Institute, Group Health Cooperative, Seattle, WA §Children's Center for Neuropsychological Rehabilitation, Barrow Neurological Institute, Phoenix, AZ ¶Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA.


The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease.
Acta Neuropathol Commun 2013 Jul 6;1:31. Epub 2013 Jul 6.
Department of Pathology and Laboratory Medicine, 3630 Hamilton Walk, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.








Individual common variants exert weak effects on the risk for autism spectrum disorders.
Hum Mol Genet 2012 Nov 26;21(21):4781-92. Epub 2012 Jul 26.
Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.



Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Hum Mol Genet 2012 Aug 3;21(15):3500-12. Epub 2012 May 3.
Department of Neurology, University of California, Los Angeles, CA, USA.

Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
Neurology 2012 Jul 20;79(3):221-8. Epub 2012 Jun 20.
Department of Neuroscience, Biostatistics Unit, Mayo Clinic Florida, Jacksonville, FL, USA.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Hum Genet 2012 Apr 14;131(4):565-79. Epub 2011 Oct 14.
School of Medicine and Medical Science University College, Dublin, Ireland.





Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Nat Genet 2011 May 3;43(5):436-41. Epub 2011 Apr 3.
The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.



A genome-wide scan for common alleles affecting risk for autism.
Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.
Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.


Functional impact of global rare copy number variation in autism spectrum disorders.
Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.




Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
PLoS Genet 2013 15;9(8):e1003671. Epub 2013 Aug 15.
Lane Center of Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.


Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.
Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.




Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.
Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.




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