John R Gilbert

John R Gilbert

UNVERIFIED PROFILE

Are you John R Gilbert?   Register this Author

Register author
John R Gilbert

John R Gilbert

Publications by authors named "John R Gilbert"

Are you John R Gilbert?   Register this Author

91Publications

-Reads

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.

Neurogenetics 2018 Jan 18;19(1):17-26. Epub 2017 Nov 18.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.

View Article
January 2018

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

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

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.

View Article
September 2017

Novel approach for independent control of brain hypothermia and systemic normothermia: cerebral selective deep hypothermia for refractory cardiac arrest.

J Neurointerv Surg 2017 Aug 25;9(8):e32. Epub 2017 Jan 25.

Department of Cardiovascular Surgery, National Taiwan University Hospital, Taipei, Taiwan.

View Article
August 2017

Linkage of familial essential tremor to chromosome 5q35.

Mov Disord 2016 07 26;31(7):1059-62. Epub 2016 Feb 26.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

View Article
July 2016

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.

View Article
June 2016

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.

View Article
February 2016

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.

View Article
July 2015

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

Authors:
Li-San Wang Adam C Naj Robert R Graham Paul K Crane Brian W Kunkle Carlos Cruchaga Josue D Gonzalez Murcia Lisa Cannon-Albright Clinton T Baldwin Henrik Zetterberg Kaj Blennow Walter A Kukull Kelley M Faber Nicole Schupf Maria C Norton JoAnn T Tschanz Ronald G Munger Christopher D Corcoran Ekaterina Rogaeva Chiao-Feng Lin Beth A Dombroski Laura B Cantwell Amanda Partch Otto Valladares Hakon Hakonarson Peter St George-Hyslop Robert C Green Alison M Goate Tatiana M Foroud Regina M Carney Eric B Larson Timothy W Behrens John S K Kauwe Jonathan L Haines Lindsay A Farrer Margaret A Pericak-Vance Richard Mayeux Gerard D Schellenberg Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Michael Barmada Lisa L Barnes Thomas G Beach James T Becker Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Steven L Carroll Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky F Yesim Demirci Malcolm Dick Dennis W Dickson Ranjan Duara Nilufer Ertekin-Taner Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass Neill R Graff-Radford John H Growdon Ronald L Hamilton Kara L Hamilton-Nelson Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun Gyungah Jun M Ilyas Kamboh Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Gei Li Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Constantine G Lyketsos Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee W Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Jill R Murrell John M Olichney Joseph E Parisi William Perry Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2015 Feb;72(2):209-16

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

View Article
February 2015

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Authors:
Adam C Naj Gyungah Jun Christiane Reitz Brian W Kunkle William Perry Yo Son Park Gary W Beecham Ruchita A Rajbhandary Kara L Hamilton-Nelson Li-San Wang John S K Kauwe Matthew J Huentelman Amanda J Myers Thomas D Bird Bradley F Boeve Clinton T Baldwin Gail P Jarvik Paul K Crane Ekaterina Rogaeva M Michael Barmada F Yesim Demirci Carlos Cruchaga Patricia L Kramer Nilufer Ertekin-Taner John Hardy Neill R Graff-Radford Robert C Green Eric B Larson Peter H St George-Hyslop Joseph D Buxbaum Denis A Evans Julie A Schneider Kathryn L Lunetta M Ilyas Kamboh Andrew J Saykin Eric M Reiman Philip L De Jager David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Eden R Martin Jonathan L Haines Richard P Mayeux Lindsay A Farrer Gerard D Schellenberg Margaret A Pericak-Vance Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Lisa L Barnes Thomas G Beach James T Becker Duane Beekly Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Minerva M Carrasquillo Steven L Carroll Helena C Chui David G Clark Jason Corneveaux David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky Malcolm Dick Dennis W Dickson Ranjan Duara Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Chiao-Feng Lin Oscar L Lopez Constantine G Lyketsos Wendy J Mack Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Jill R Murrell John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Otto Valladares Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2014 Nov;71(11):1394-404

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

View Article
November 2014

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.

View Article
October 2014

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:

View Article
May 2014

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.

View Article
September 2013

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.

View Article
August 2013

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.

View Article
September 2012

Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis.

J Autism Dev Disord 2012 Aug;42(8):1630-41

Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

View Article
August 2012

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.

View Article
August 2012

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

Authors:
Mariet Allen Fanggeng Zou High Seng Chai Curtis S Younkin Julia Crook V Shane Pankratz Minerva M Carrasquillo Christopher N Rowley Asha A Nair Sumit Middha Sooraj Maharjan Thuy Nguyen Li Ma Kimberly G Malphrus Ryan Palusak Sarah Lincoln Gina Bisceglio Constantin Georgescu Debra Schultz Fariborz Rakhshan Christopher P Kolbert Jin Jen Jonathan L Haines Richard Mayeux Margaret A Pericak-Vance Lindsay A Farrer Gerard D Schellenberg Ronald C Petersen Neill R Graff-Radford Dennis W Dickson Steven G Younkin Nilüfer Ertekin-Taner Liana G Apostolova Steven E Arnold Clinton T Baldwin Robert Barber Michael M Barmada Thomas Beach Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Jacqueline Buros Joseph D Buxbaum Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Steven L Carroll Helena C Chui David G Clark Jason Corneveaux Carl W Cotman Paul K Crane Carlos Cruchaga Jeffrey L Cummings Philip L De Jager Charles DeCarli Steven T DeKosky F Yesim Demirci Ramon Diaz-Arrastia Malcolm Dick Beth A Dombroski Ranjan Duara William D Ellis Denis Evans Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Tatiana M Foroud Matthew Frosch Douglas R Galasko Paul J Gallins Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Sid Gilman Bruno Giordani Jonathan D Glass Alison M Goate Robert C Green John H Growdon Hakon Hakonarson Ronald L Hamilton John Hardy Lindy E Harrell Elizabeth Head Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun M Ilyas Kamboh Jason Karlawish Anna Karydas John S K Kauwe Jeffrey A Kaye Nancy Kennedy Ronald Kim Edward H Koo Neil W Kowall Patricia Kramer Walter A Kukull James J Lah Eric B Larson Allan I Levey Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Amanda J Myers Adam C Naj Petra Nowotny Joseph E Parisi Daniel P Perl Elaine Peskind Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Ruchita A Rajbhandary Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William Seeley Michael L Shelanski Michael A Slifer Charles D Smith Joshua A Sonnen Salvatore Spina Peter St George-Hyslop Robert A Stern Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Badri Narayan Vardarajan Harry V Vinters Jean Paul Vonsattel Li-San Wang Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Randall L Woltjer

Neurology 2012 Jul 20;79(3):221-8. Epub 2012 Jun 20.

Department of Neuroscience, Biostatistics Unit, Mayo Clinic Florida, Jacksonville, FL, USA.

View Article
July 2012

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.

View Article
July 2011

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Authors:
Adam C Naj Gyungah Jun Gary W Beecham Li-San Wang Badri Narayan Vardarajan Jacqueline Buros Paul J Gallins Joseph D Buxbaum Gail P Jarvik Paul K Crane Eric B Larson Thomas D Bird Bradley F Boeve Neill R Graff-Radford Philip L De Jager Denis Evans Julie A Schneider Minerva M Carrasquillo Nilufer Ertekin-Taner Steven G Younkin Carlos Cruchaga John S K Kauwe Petra Nowotny Patricia Kramer John Hardy Matthew J Huentelman Amanda J Myers Michael M Barmada F Yesim Demirci Clinton T Baldwin Robert C Green Ekaterina Rogaeva Peter St George-Hyslop Steven E Arnold Robert Barber Thomas Beach Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Chris S Carlson Regina M Carney Steven L Carroll Helena C Chui David G Clark Jason Corneveaux Carl W Cotman Jeffrey L Cummings Charles DeCarli Steven T DeKosky Ramon Diaz-Arrastia Malcolm Dick Dennis W Dickson William G Ellis Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Sid Gilman Bruno Giordani Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Nancy Johnson Jason Karlawish Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall James J Lah Allan I Levey Andrew P Lieberman Oscar L Lopez Wendy J Mack Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Joseph E Parisi Daniel P Perl Elaine Peskind Ronald C Petersen Wayne W Poon Joseph F Quinn Ruchita A Rajbhandary Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Roger N Rosenberg Mary Sano Lon S Schneider William Seeley Michael L Shelanski Michael A Slifer Charles D Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Randall L Woltjer Laura B Cantwell Beth A Dombroski Duane Beekly Kathryn L Lunetta Eden R Martin M Ilyas Kamboh Andrew J Saykin Eric M Reiman David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Jonathan L Haines Richard Mayeux Margaret A Pericak-Vance Lindsay A Farrer Gerard D Schellenberg

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.

View Article
May 2011

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.

View Article
April 2011

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.

Psychiatr Genet 2010 Dec;20(6):321-4

John P. Hussman Institute for Human Genomics, Dr John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

View Article
December 2010

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.

View Article
September 2010

APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation.

Ann Hum Genet 2010 May;74(3):189-94

John P Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida 33136, USA.

View Article
May 2010

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.

View Article
November 2009

Resolving the relationship between ApolipoproteinE and depression.

Neurosci Lett 2009 May 6;455(2):116-9. Epub 2009 Mar 6.

Miami Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

View Article
May 2009

Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.

Anal Biochem 2009 Mar 7;386(2):288-90. Epub 2008 Dec 7.

Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.

View Article
March 2009

Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

Hum Mutat 2009 Mar;30(3):463-71

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232, USA.

View Article
March 2009

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.

Am J Hum Genet 2009 Jan;84(1):35-43

Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33101, USA.

View Article
January 2009

Autism in African American families: clinical-phenotypic findings.

Am J Med Genet B Neuropsychiatr Genet 2007 Dec;144B(8):1022-6

Duke University Medical Center, Durham, NC, USA.

View Article
December 2007

Factor analysis of the aberrant behavior checklist in individuals with autism spectrum disorders.

J Autism Dev Disord 2007 Nov 21;37(10):1949-59. Epub 2006 Dec 21.

Center for Human Genetics, Duke University Medical Center, DUMC Box 3445, Durham, NC 27710, USA.

View Article
November 2007

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.

View Article
August 2007

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.

View Article
March 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:
Peter Szatmari Andrew D Paterson Lonnie Zwaigenbaum Wendy Roberts Jessica Brian Xiao-Qing Liu John B Vincent Jennifer L Skaug Ann P Thompson Lili Senman Lars Feuk Cheng Qian Susan E Bryson Marshall B Jones Christian R Marshall Stephen W Scherer Veronica J Vieland Christopher Bartlett La Vonne Mangin Rhinda Goedken Alberto Segre Margaret A Pericak-Vance Michael L Cuccaro John R Gilbert Harry H Wright Ruth K Abramson Catalina Betancur Thomas Bourgeron Christopher Gillberg Marion Leboyer Joseph D Buxbaum Kenneth L Davis Eric Hollander Jeremy M Silverman Joachim Hallmayer Linda Lotspeich James S Sutcliffe Jonathan L Haines Susan E Folstein Joseph Piven Thomas H Wassink Val Sheffield Daniel H Geschwind Maja Bucan W Ted Brown Rita M Cantor John N Constantino T Conrad Gilliam Martha Herbert Clara Lajonchere David H Ledbetter Christa Lese-Martin Janet Miller Stan Nelson Carol A Samango-Sprouse Sarah Spence Matthew State Rudolph E Tanzi Hilary Coon Geraldine Dawson Bernie Devlin Annette Estes Pamela Flodman Lambertus Klei William M McMahon Nancy Minshew Jeff Munson Elena Korvatska Patricia M Rodier Gerard D Schellenberg Moyra Smith M Anne Spence Chris Stodgell Ping Guo Tepper Ellen M Wijsman Chang-En Yu Bernadette Rogé Carine Mantoulan Kerstin Wittemeyer Annemarie Poustka Bärbel Felder Sabine M Klauck Claudia Schuster Fritz Poustka Sven Bölte Sabine Feineis-Matthews Evelyn Herbrecht Gabi Schmötzer John Tsiantis Katerina Papanikolaou Elena Maestrini Elena Bacchelli Francesca Blasi Simona Carone Claudio Toma Herman Van Engeland Maretha de Jonge Chantal Kemner Frederieke Koop Frederike Koop Marjolein Langemeijer Marjolijn Langemeijer Channa Hijmans Channa Hijimans Wouter G Staal Gillian Baird Patrick F Bolton Michael L Rutter Emma Weisblatt Jonathan Green Catherine Aldred Julie-Anne Wilkinson Andrew Pickles Ann Le Couteur Tom Berney Helen McConachie Anthony J Bailey Kostas Francis Gemma Honeyman Aislinn Hutchinson Jeremy R Parr Simon Wallace Anthony P Monaco Gabrielle Barnby Kazuhiro Kobayashi Janine A Lamb Ines Sousa Nuala Sykes Edwin H Cook Stephen J Guter Bennett L Leventhal Jeff Salt Catherine Lord Christina Corsello Vanessa Hus Daniel E Weeks Fred Volkmar Maïté Tauber Eric Fombonne Andy Shih Kacie J Meyer

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.

View Article
March 2007

A comparative analysis of the information content in long and short SAGE libraries.

BMC Bioinformatics 2006 Nov 16;7:504. Epub 2006 Nov 16.

Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

View Article
November 2006

Lack of association between autism and SLC25A12.

Am J Psychiatry 2006 May;163(5):929-31

Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St., Durham, NC 27710, USA.

View Article
May 2006

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.

View Article
February 2006

Joint effects of smoking history and APOE genotypes in age-related macular degeneration.

Mol Vis 2005 Nov 4;11:941-9. Epub 2005 Nov 4.

Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

View Article
November 2005

Human neural tube defects: developmental biology, epidemiology, and genetics.

Neurotoxicol Teratol 2005 May-Jun;27(3):515-24. Epub 2005 Mar 5.

Hôpital Necker, Enfants Malades Unité INSERM U393, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

View Article
August 2005

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.

View Article
December 2004

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.

View Article
December 2004

TERC is not a major gene in human neural tube defects.

Birth Defects Res A Clin Mol Teratol 2004 Aug;70(8):531-3

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

View Article
August 2004

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.

View Article
November 2003

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.

View Article
August 2003

Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.

Invest Ophthalmol Vis Sci 2003 Jul;44(7):2868-75

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

View Article
July 2003

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.

View Article
January 2002