Publications

Variants in chondroitin sulfate metabolism genes in thrombotic storm.
Thromb Res 2018 Jan 21;161:43-51. Epub 2017 Nov 21.
University of Miami, John P. Hussman Institute for Human Genomics, Miller School of Medicine, Biomedical Research Building, 1501 NW 10th Ave, Miami, FL 33136, United States. Electronic address:


ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION.
Retina 2017 Oct;37(10):1880-1887
*Doheny Image Reading Center, Doheny Eye Institute, Los Angeles, California; †Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California; ‡First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China; §Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, Ohio; ¶John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida; and **Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

The Alzheimer's Disease Sequencing Project: Study design and sample selection.
Neurol Genet 2017 Oct 13;3(5):e194. Epub 2017 Oct 13.
John P. Hussman Institute for Human Genomics (G.W.B., E.R.M., M.A.P.-V.) and Dr. John T. Macdonald Foundation Department of Human Genetics (G.W.B., E.R.M., M.A.P.-V.), Miller School of Medicine, University of Miami, FL; Cardiovascular Health Research Unit (J.C.B.), Department of Medicine, Cardiovascular Health Research Unit (B.M.P.), Departments of Medicine, Epidemiology, Health Services, Department of Biostatistics (E.W.), and Division of Medical Genetics (E.W.), Department of Medicine, University of Washington, Seattle; Department of Biostatistics (S.-H.C., A.D., L.A.F.), Boston University School of Public Health, MA; The Framingham Heart Study (A.D., S.S.), MA; Department of Neurology (A.D., L.A.F., S.S.), Boston University School of Medicine, MA; Department of Epidemiology (C.M.v.D), Erasmus MC, Rotterdam, Netherlands; Brown Foundation Institute of Molecular Medicine (M.F.) and Human Genetics Center (M.F.), University of Texas Health Science Center, Houston; The Eli and Edythe L. Broad Institute of Massachusetts Institute of Technology (S.B.G.), Cambridge; Harvard University (S.B.G.), Cambridge, MA; The McDonnell Genome Institute (D.C.K., D.E.L.) and Department of Genetics (D.E.L.), Washington University, St. Louis, MO; Department of Biostatistics and Epidemiology (A.C.N.) and Perelman School of Medicine (G.S.), University of Pennsylvania, Philadelphia; Group Health Research Institute (B.M.P.), Group Health Cooperative, Seattle, WA; Human Genome Sequencing Center (W.S., E.B.), Baylor College of Medicine, Houston, TX; Department of Epidemiology and Biostatistics (W.S.B., J.L.H.), Case Western Reserve University, Cleveland, OH; Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Department of Medicine (Biomedical Genetics) (L.A.F.), Department of Ophthalmology (L.A.F.), and Department of Epidemiology (L.A.F.), Boston University School of Medicine and Public Health, MA; Department of Neuroscience (A.G.), Icahn School of Medicine at Mount Sinai, New York, NY; Human Genetics Center (E.B.), UT Health School of Public Health, Houston, TX; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.M.) and Gertrude H. Sergievsky Center (R.M.), Columbia University Medical Center, New York, NY; Department of Neurology (R.M.), Columbia University Medical Center and New York Presbyterian Hospital, NY; and Department of Epidemiology (R.M.), Mailman School of Public Health, Columbia University, New York, NY.

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.



Transethnic genome-wide scan identifies novel Alzheimer's disease loci.
Alzheimers Dement 2017 Jul 7;13(7):727-738. Epub 2017 Feb 7.
Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine, Boston, MA, USA; Department of Neurology, Boston University Schools of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University Schools of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University Schools of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University Schools of Public Health, Boston, MA, USA. Electronic address:


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 at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.
Menopause 2017 Feb;24(2):150-156
1Department of Ophthalmology, Massachusetts Eye and Ear Infirmary 2Channing Division of Network Medicine, Brigham and Women's Hospital 3Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard Medical School, Boston, MA 4Department of Epidemiology and Biostatistics 5Institute of Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH 6Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 7Department of Ophthalmology 8Department of Medicine, Duke University, Duke University Medical Center, Durham, NC 9Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 10Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 11Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 12Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA 13Departments of Ophthalmology and Anatomy/Cell Biology, University of Iowa, College of Medicine, Iowa City, IO 14Department of Ophthalmology, University of North Carolina, Chapel Hill, NC 15Department of Ophthalmology, WVU Eye Institute, Morgantown, WV 16Scripps Genome Center, University of California at San Diego, San Diego, CA 17Emmes Corporation, Chevy Chase, MD 18Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 19Department of Ophthalmology, Stanford University, Palo Alto, CA 20Department of Ophthalmology, Mayo Clinic, Rochester, MN 21Wills Eye Institute, Philadelphia, PA 22Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY 23Department of Ophthalmology, Case Western Reserve University School of Medicine, Cleveland, OH 24Department of Ophthalmology & Visual Sciences, University of Nebraska Medical Center, Omaha, NE 25Department of Genetics; Stanford University, Palo Alto, CA 26Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, MD 27Department of Ophthalmology, Hamilton Eye Center; University of California at San Diego, San Diego, CA 28Department of Cellular Biology & Anatomy, Augusta University, Augusta, GA.

Heritability of Choroidal Thickness in the Amish.
Ophthalmology 2016 Dec 19;123(12):2537-2544. Epub 2016 Oct 19.
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida. Electronic address:

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.



DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient.
Neurol Genet 2016 Jun 12;2(3):e72. Epub 2016 Apr 12.
John P. Hussman Institute for Human Genomics (L.W., L.M., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), and Dr. John T. Macdonald Foundation Department of Human Genetics (L.W., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), Miller School of Medicine, University of Miami, FL; Departments of Neurology (M.L.E.), and Pathology (J.C.R.), Emory University, Atlanta, GA; Department of Epidemiology and Biostatistics and Institute for Computational Biology (J.L.H.), Case Western Reserve University, Cleveland, OH; Veterans Affairs Puget Sound Health Care System and Department of Neurology (C.P.Z.), University of Washington, Seattle, WA; and Department of Neurology (H.P.), University of Alabama at Birmingham, AL.

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.


A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.
Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.


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:



Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
BMC Bioinformatics 2015 Oct 14;16:329. Epub 2015 Oct 14.
Institute for Computational Biology, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells.
Mol Cell Neurosci 2015 Sep 16;68:244-57. Epub 2015 Aug 16.
Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, United States; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States. Electronic address:


Alzheimer disease (AD) specific transcription, DNA methylation and splicing in twenty AD associated loci.
Mol Cell Neurosci 2015 Jul 21;67:37-45. Epub 2015 May 21.
John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA. Electronic address:


Vitamin D from different sources is inversely associated with Parkinson disease.
Mov Disord 2015 Apr 27;30(4):560-6. Epub 2014 Dec 27.
John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.
Neurology 2015 Mar 6;84(10):972-80. Epub 2015 Feb 6.
From the John P. Hussman Institute for Human Genomics (G.W.B., W.K.S., E.R.M., K.N., L.W., D.M.D., M.A.P.-V., J.M.V.) and University of Miami Brain Endowment Bank (D.C.M.), Miller School of Medicine, University of Miami, FL; Departments of Neuroscience (D.W.D., O.A.R.) and Neurology (Z.K.W.), Mayo Clinic Florida, Jacksonville; Department of Pathology & Laboratory Medicine (G.S., J.Q.T., V.M.V.D., H.I.H.), Perelman School of Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia; Group Health Research Institute (E.B.L.), Seattle, WA; Departments of Psychiatry, and Genetics and Genomic Sciences (J.D.B.), Mount Sinai School of Medicine, New York, NY; Arizona Alzheimer's Consortium (T.G.B.), Phoenix; Sun Health Research Institute (T.G.B.), Sun City, AZ; Division of Neuropathology, Department of Pathology (J.C.T., O.P.), and Department of Neurology and the Solomon H. Snyder Department of Neuroscience (T.M.D.), Johns Hopkins University School of Medicine, Baltimore, MD; Kubik Laboratory for Neuropathology (M.P.F.), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center (B.G.), and Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Departments of Neurology (L.S.H., K.M.) and Psychiatry (K.M.), Gertrude H. Sergievsky Center, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York; Department of Pathology and Cell Biology (J.P.V.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY; The Parkinson's Institute (S.M.G.), Sunnyvale, CA; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology (H.V.V.), David Geffen School of Medicine at University of California Los Angeles; Department of Pathology (T.J.M.), University of Washington School of Medicine, Seattle; VA Puget Sound Health Care System (

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.

Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.
Circ Cardiovasc Genet 2014 Dec 1;7(6):848-53. Epub 2014 Nov 1.
From the Institute for Computational Biology (D.C.C., P.M., J.L.H.), Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH (D.C.C., J.L.H.); Center for Human Genetics Research (L.D., R.G., K.B.-G., J.B., B.M., M.A., N.S.-B.), Department of Molecular Physiology and Biophysics (L.D.), Vanderbilt Technologies for Advanced Genomics Core Facility, Vanderbilt University, Nashville, TN (C.S., R.W., P.B., H.H.D.); Hussman Institute for Human Genomics, University of Miami, FL (M.A.P.-V., W.K.S.); and Division of Endocrinology, Diabetes, and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore (T.I.P.).


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.



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.


Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration.
Invest Ophthalmol Vis Sci 2014 Jul 11. Epub 2014 Jul 11.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave., Biomedical Research Building (BRB) # 414, Miami, Florida, 33136, United States


Rare complement factor H variant associated with age-related macular degeneration in the Amish.
Invest Ophthalmol Vis Sci 2014 Jun 6;55(7):4455-60. Epub 2014 Jun 6.
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, United States Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States.

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:




Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
Nat Genet 2013 Nov 29;45(11):1353-60. Epub 2013 Sep 29.
1] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA. [2].

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.

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.



Seven new loci associated with age-related macular degeneration.
Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.
Institute of Human Genetics, University of Regensburg, Regensburg, Germany.










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.

Identification and confirmation of an exonic splicing enhancer variation in exon 5 of the Alzheimer disease associated PICALM gene.
Ann Hum Genet 2012 Nov 4;76(6):448-53. Epub 2012 Sep 4.
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37232, 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.


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.


Integrated whole transcriptome and DNA methylation analysis identifies gene networks specific to late-onset Alzheimer's disease.
J Alzheimers Dis 2015 ;44(3):977-87
University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL, USA University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Miami, FL, USA.

Examination of candidate exonic variants for association to Alzheimer disease in the Amish.
PLoS One 2015 10;10(2):e0118043. Epub 2015 Feb 10.
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, United States of America; Department of Epidemiology & Biostatistics and Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, 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.




Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.
Singapore Eye Research Institute, Singapore.


OF