Publications

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet 2017 Sep 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.


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.


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.

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.


Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
Alzheimers Dement 2014 May 30;10(3):360-5. Epub 2013 May 30.
University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Miami, FL, USA; University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL, USA. Electronic address:


C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Ann Hum Genet 2013 Sep 12;77(5):351-63. Epub 2013 Jul 12.
University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10th Ave, Miami, FL, 33136, USA.

Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
Age (Dordr) 2013 Aug 7;35(4):1467-77. Epub 2012 Jul 7.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute of Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, Room 414, Miami, FL 33136, USA.



Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
Birth Defects Res A Clin Mol Teratol 2012 Sep 18;94(9):683-92. Epub 2012 Jul 18.
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.


Vitamin D receptor and Alzheimer's disease: a genetic and functional study.
Neurobiol Aging 2012 Aug 4;33(8):1844.e1-9. Epub 2012 Feb 4.
Hussman Institute for Human Genomics, University of Miami Miller School of Medicine 1501 NW 10 Ave, Miami, Florida, 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.




Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish.
Ann Hum Genet 2011 Jul;75(4):516-28
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.



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.

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.
PLoS One 2011 Apr 29;6(4):e18595. Epub 2011 Apr 29.
John T. MacDonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.



Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PLoS Genet 2010 Sep 23;6(9):e1001130. Epub 2010 Sep 23.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.


NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans.
Hum Genet 2009 Nov 3;126(5):643-53. Epub 2009 Jul 3.
Dr. John T. Macdonald Foundation Department of Human Genetics, Miami Institute of Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.




A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.
Mol Cell Neurosci 2007 Nov 24;36(3):313-31. Epub 2007 Jul 24.
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.
Psychiatr Genet 2007 Aug;17(4):221-6
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA.


Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nat Genet 2007 Mar 18;39(3):319-28. Epub 2007 Feb 18.
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.




Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.
Neurobiol Dis 2006 Feb 29;21(2):256-75. Epub 2005 Sep 29.
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.





Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.
Neurogenetics 2004 Dec 29;5(4):201-8. Epub 2004 Sep 29.
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.
Neurosci Lett 2004 Dec;372(3):209-14
Department of Medicine, Center for Human Genetics, 595 LaSalle St., Box 3445, Duke University Medical Center, Durham, NC 27710, USA.



Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.
Am J Hum Genet 2003 Nov 16;73(5):1041-51. Epub 2003 Oct 16.
Department of Medicine, Duke University Medical Center, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA.

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.
Neurosci Lett 2003 Aug;347(3):143-6
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA.



Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Nat Genet 2002 Jan 17;30(1):21-2. Epub 2001 Dec 17.
Center for Human Genetics, Institute of Genomic Sciences and Policy, Research Park Building II Room 105, Box 2903, Duke University Medical Center, Durham, North Carolina 27710, USA.


Association analysis of genetic polymorphisms in the CDC2 gene with late-onset Alzheimer disease.
Dement Geriatr Cogn Disord 2007 8;23(2):126-32. Epub 2006 Dec 8.
Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.



KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers.
PLoS One 2013 12;8(12):e82194. Epub 2013 Dec 12.
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America.

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Mol Autism 2015 7;6:43. Epub 2015 Jul 7.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA ; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA.

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