Publications


SORL1 mutations in early- and late-onset Alzheimer disease.
Neurol Genet 2016 Dec 26;2(6):e116. Epub 2016 Oct 26.
John P. Hussman Institute for Human Genomics (M.L.C., R.M.C., B.W.K., P.L.W., H.N.C., M.A.P.-V.), University of Miami Miller School of Medicine, FL; Mental Health & Behavioral Science Service (R.M.C.), Bruce W. Carter VA Medical Center, 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; Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine (Y.Z., C.B., P.S.G.-H.), University of Toronto, Ontario, Canada; Cambridge Institute for Medical Research (P.S.G.-H.), Department of Clinical Neurosciences, University of Cambridge, United Kingdom; and Dr. John T. Macdonald Foundation Department of Human Genetics (M.L.C., M.A.P.-V.), Miller School of Medicine, University of Miami, FL.

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.


Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD).
Am J Med Genet A 2014 Oct 4;164A(10):2592-600. Epub 2014 Aug 4.
Dr. John T. McDonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.



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.



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.



Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells.
Neurosci Lett 2012 May 7;516(1):9-14. Epub 2012 Mar 7.
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Ave, BRB 509, Miami, FL 33146, 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.






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.




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.

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.




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.

OF