Susan Blanton

Susan Blanton

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Susan Blanton

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100Publications

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Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes.

Eur J Hum Genet 2018 Oct 13;26(10):1441-1450. Epub 2018 Jun 13.

Center for Craniofacial Research, University of Texas Health Science Center at Houston (UTHealth) School of Dentistry, Houston, TX, 77054, USA.

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October 2018

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis.

Biomed Res Int 2018 15;2018:3103986. Epub 2018 Jan 15.

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

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September 2018

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Hum Genet 2018 Jul 2;137(6-7):437-446. Epub 2018 Jun 2.

Department of Otolaryngology (D-48), Miller School of Medicine, University of Miami, 1666 NW 12th Avenue, Miami, FL, 33136, USA.

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July 2018

BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.

Birth Defects Res 2018 Jul 19;110(12):1043-1048. Epub 2018 Jun 19.

Center for Craniofacial Research, UTHealth School of Dentistry at Houston, Houston TX, USA.

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July 2018

Apolipoprotein E Gene Polymorphism and Subclinical Carotid Atherosclerosis: The Northern Manhattan Study.

J Stroke Cerebrovasc Dis 2018 Mar 2;27(3):645-652. Epub 2017 Nov 2.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, Florida; Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

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March 2018

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Gene 2018 Mar 10;647:297-305. Epub 2018 Jan 10.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China; Tsinghua University School of Medicine, Beijing 10084, China; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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March 2018

Sequencing of Linkage Region on Chromosome 12p11 Identifies as a Candidate Gene for Left Ventricular Mass in Dominican Families.

G3 (Bethesda) 2018 02 2;8(2):659-668. Epub 2018 Feb 2.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Florida 33136

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February 2018

Precision medicine in hearing loss.

J Genet Genomics 2018 Feb 16;45(2):99-109. Epub 2018 Feb 16.

Department of Otolaryngology, 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; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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February 2018

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the gene.

Mol Vis 2016 17;22:1239-1247. Epub 2016 Oct 17.

Human Genetics Center, School of Public Health, The University of Texas Health Science Center (UTHealth), Houston, TX; Ruiz Dept. of Ophthalmology, University of Texas Health Science Center Houston (UTHealth), Houston, TX.

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January 2018

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Int J Pediatr Otorhinolaryngol 2017 Oct 8;101:167-171. Epub 2017 Aug 8.

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address:

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October 2017

Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities.

Neurol Genet 2017 Oct 25;3(5):e185. Epub 2017 Sep 25.

John T. McDonald Department of Human Genetics (A.B., L.W., S.H.B., R.L.S.), John P Hussman Institute for Human Genomics (A.B., N.D., L.W., S.H.B.), Evelyn F. McKnight Brain Institute (C.D., C.B.W., T.R., R.L.S.), Department of Neurology (C.D., C.B.W., T.R., R.L.S.), and Department of Epidemiology and Public Health (C.B.W., T.R., R.L.S.), Miller School of Medicine, University of Miami, FL; Gertrude H. Sergievsky Center (A.M.B., R.M.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain (A.M.B., R.M.), and Department of Neurology (A.M.B., R.M.), College of Physicians and Surgeons, Columbia University, New York; and Department of Neurology and Center for Neuroscience (C.D.), University of California at Davis, Sacramento.

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October 2017

Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families.

PLoS One 2016 9;11(12):e0167202. Epub 2016 Dec 9.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America.

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July 2017

The genetic basis of deafness in populations of African descent.

J Genet Genomics 2017 Jun 6;44(6):285-294. Epub 2017 May 6.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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June 2017

Novel genetic loci associated with hippocampal volume.

Authors:
Derrek P Hibar Hieab H H Adams Neda Jahanshad Ganesh Chauhan Jason L Stein Edith Hofer Miguel E Renteria Joshua C Bis Alejandro Arias-Vasquez M Kamran Ikram Sylvane Desrivières Meike W Vernooij Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Ashley H Beecham Alexa Beiser Manon Bernard Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Qiang Chen Christopher R K Ching Vincent Chouraki Gabriel Cuellar-Partida Fabrice Crivello Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Oliver Grimm Michael E Griswold Tulio Guadalupe Boris A Gutman Johanna Hass Unn K Haukvik David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Kjetil N Jørgensen Nazanin Karbalai Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre F Marquand Mar Matarin Karen A Mather Manuel Mattheisen David R McKay Yuri Milaneschi Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Paul Nyquist Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Lukas Pirpamer Benno Pütz Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Stefan Ropele Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Arvin Saremi Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Stella Trompet Dhananjay Vaidya Jeroen Van der Grond Sven J Van der Lee Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Katharina Wittfeld Girma Woldehawariat Christiane Wolf Thomas Wolfers Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Anton J M De Craen Eco J C De Geus Philip L De Jager Greig I De Zubicaray Ian J Deary Stéphanie Debette Charles DeCarli Norman Delanty Chantal Depondt Anita DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Christian Enzinger Susanne Erk Thomas Espeseth Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Myriam Fornage Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Asta K Håberg Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Matthew Huentelman Hilleke E Hulshoff Pol Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Helena Schmidt Peter R Schofield Sigurdur Sigursson Andrew Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Magda Tsolaki Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad van der Lugt Nic J A van der Wee Neeltje E M Van Haren Dennis van 't Ent Marie-Jose Van Tol Badri N Vardarajan Bruno Vellas Dick J Veltman Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright Ronald H Zielke Alan B Zonderman Nicholas G Martin Cornelia M Van Duijn Margaret J Wright W T Longstreth Gunter Schumann Hans J Grabe Barbara Franke Lenore J Launer Sarah E Medland Sudha Seshadri Paul M Thompson M Arfan Ikram

Nat Commun 2017 01 18;8:13624. Epub 2017 Jan 18.

Department of Epidemiology, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands.

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January 2017

Sickle Cell Trait and Renal Function in Hispanics in the United States: The Northern Manhattan Study.

Ethn Dis 2017 Jan 19;27(1):11-14. Epub 2017 Jan 19.

John P. Hussman Institute for Human Genomics, University of Miami; Dr. John T. Macdonald Department of Human Genetics, University of Miami.

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January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Authors:
Hieab H H Adams Derrek P Hibar Vincent Chouraki Jason L Stein Paul A Nyquist Miguel E Rentería Stella Trompet Alejandro Arias-Vasquez Sudha Seshadri Sylvane Desrivières Ashley H Beecham Neda Jahanshad Katharina Wittfeld Sven J Van der Lee Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Alexa Beiser Manon Bernard Joshua C Bis Laura M E Blanken Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Ganesh Chauhan Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Irina Filippi Tian Ge Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Corina U Greven Oliver Grimm Michael E Griswold Tulio Guadalupe Johanna Hass Unn K Haukvik Saima Hilal Edith Hofer David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Jiemin Liao David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre Marquand Mar Matarin Karen A Mather Manuel Mattheisen Bernard Mazoyer David R McKay Rebekah McWhirter Yuri Milaneschi Nazanin Mirza-Schreiber Ryan L Muetzel Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Irene Pappa Lukas Pirpamer Sara Pudas Benno Pütz Kumar B Rajan Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Russell Thomson Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Dhananjay Vaidya Jeroen Van der Grond Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Girma Woldehawariat Christiane Wolf Thomas Wolfers Bing Xu Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Neelum T Aggarwal Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Christopher Chen Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Eco J C De Geus Philip L De Jager Greig I de Zubicaray Norman Delanty Chantal Depondt Anita L DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Susanne Erk Thomas Espeseth Denis A Evans Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Hans J Grabe Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Hilleke E Hulshoff Pol Masashi Ikeda M Kamran Ikram Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo W T Longstreth Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Katie L McMahon Francis J McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Peter R Schofield Sigurdur Sigurdsson Andy Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Velandai Srikanth Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Henning Tiemeier Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad Van der Lugt Nic J A Van der Wee Cornelia M Van Duijn Neeltje E M Van Haren Dennis Van T Ent Marie-Jose Van Tol Badri N Vardarajan Dick J Veltman Meike W Vernooij Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright H Ronald Zielke Alan B Zonderman Ian J Deary Charles DeCarli Helena Schmidt Nicholas G Martin Anton J M De Craen Margaret J Wright Lenore J Launer Gunter Schumann Myriam Fornage Barbara Franke Stéphanie Debette Sarah E Medland M Arfan Ikram Paul M Thompson

Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.

Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.

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December 2016

Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism.

Clin Orthop Relat Res 2016 Jul 28;474(7):1726-35. Epub 2016 Mar 28.

Department of Pediatrics, UTHealth McGovern Medical School, 6431 Fannin St., MSB 3.306, Houston, TX, 77030, USA.

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July 2016

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Am J Hum Genet 2016 Apr 24;98(4):744-54. Epub 2016 Mar 24.

Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA; Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA. Electronic address:

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April 2016

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Hear Res 2016 Mar 2;333:179-184. Epub 2016 Feb 2.

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

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March 2016

Sirtuin/uncoupling protein gene variants and carotid plaque area and morphology.

Int J Stroke 2015 Dec 1;10(8):1247-52. Epub 2015 Sep 1.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, USA.

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December 2015

Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation.

Hum Genet 2015 Oct 30;134(10):1127-38. Epub 2015 Aug 30.

John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1120 NW 14th Street, Miami, FL, 33136, USA.

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October 2015

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.

Mol Genet Genomic Med 2015 Sep 7;3(5):440-51. Epub 2015 May 7.

Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas ; Graduate School of Biomedical Sciences, University of Texas Health Science Center Houston, Texas ; University of Texas School of Dentistry at Houston Houston, Texas.

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September 2015

Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: a genome-wide interaction study.

Atherosclerosis 2015 Jun 16;240(2):462-7. Epub 2015 Apr 16.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA; Department of Epidemiology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. Electronic address:

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June 2015

Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.

Authors:
Benjamin F J Verhaaren Stéphanie Debette Joshua C Bis Jennifer A Smith M Kamran Ikram Hieab H Adams Ashley H Beecham Kumar B Rajan Lorna M Lopez Sandra Barral Mark A van Buchem Jeroen van der Grond Albert V Smith Katrin Hegenscheid Neelum T Aggarwal Mariza de Andrade Elizabeth J Atkinson Marian Beekman Alexa S Beiser Susan H Blanton Eric Boerwinkle Adam M Brickman R Nick Bryan Ganesh Chauhan Christopher P L H Chen Vincent Chouraki Anton J M de Craen Fabrice Crivello Ian J Deary Joris Deelen Philip L De Jager Carole Dufouil Mitchell S V Elkind Denis A Evans Paul Freudenberger Rebecca F Gottesman Vilmundur Guðnason Mohamad Habes Susan R Heckbert Gerardo Heiss Saima Hilal Edith Hofer Albert Hofman Carla A Ibrahim-Verbaas David S Knopman Cora E Lewis Jiemin Liao David C M Liewald Michelle Luciano Aad van der Lugt Oliver O Martinez Richard Mayeux Bernard Mazoyer Mike Nalls Matthias Nauck Wiro J Niessen Ben A Oostra Bruce M Psaty Kenneth M Rice Jerome I Rotter Bettina von Sarnowski Helena Schmidt Pamela J Schreiner Maaike Schuur Stephen S Sidney Sigurdur Sigurdsson P Eline Slagboom David J M Stott John C van Swieten Alexander Teumer Anna Maria Töglhofer Matthew Traylor Stella Trompet Stephen T Turner Christophe Tzourio Hae-Won Uh André G Uitterlinden Meike W Vernooij Jing J Wang Tien Y Wong Joanna M Wardlaw B Gwen Windham Katharina Wittfeld Christiane Wolf Clinton B Wright Qiong Yang Wei Zhao Alex Zijdenbos J Wouter Jukema Ralph L Sacco Sharon L R Kardia Philippe Amouyel Thomas H Mosley W T Longstreth Charles C DeCarli Cornelia M van Duijn Reinhold Schmidt Lenore J Launer Hans J Grabe Sudha S Seshadri M Arfan Ikram Myriam Fornage

Circ Cardiovasc Genet 2015 Apr 7;8(2):398-409. Epub 2015 Feb 7.

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April 2015

Whole-exome sequencing and its impact in hereditary hearing loss.

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

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

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March 2015

Relationship between sirtuin and mitochondrial uncoupling protein genes and carotid artery stiffness.

Transl Res 2015 Feb 6;165(2):358-9. Epub 2014 Sep 6.

Department of Neurology, University of Miami, Miami, FL; Evelyn McKnight Brain Institute, Miller School of Medicine, University of Miami, Miami, FL; Department of Public Health Sciences, University of Miami, Miami, FL. Electronic address:

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February 2015

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

BMC Med Genet 2015 Feb 25;16. Epub 2015 Feb 25.

John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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February 2015

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Brain 2014 Nov 14;137(Pt 11):2897-902. Epub 2014 Aug 14.

2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA

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November 2014

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.

Int J Pediatr Otorhinolaryngol 2014 Nov 23;78(11):1870-3. Epub 2014 Aug 23.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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November 2014

Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.

J Neurol Sci 2014 Sep 14;344(1-2):27-31. Epub 2014 Jun 14.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, United States. Electronic address:

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September 2014

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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September 2014

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.

Birth Defects Res A Clin Mol Teratol 2014 Sep 27;100(9):679-85. Epub 2014 Aug 27.

Department of Endodontics, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas; Craniofacial Research Center, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas.

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September 2014

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2014 Sep 4;55(11):7147-58. Epub 2014 Sep 4.

Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States Department of Ophthalmology and Visual Sciences, University of Texas Health Science Center, Houston, Texas, United States.

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September 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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July 2014

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Hum Genet 2014 Jun 13;133(6):737-42. Epub 2013 Dec 13.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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June 2014

Genome-wide association study identifies new disease loci for isolated clubfoot.

J Med Genet 2014 May 25;51(5):334-9. Epub 2014 Mar 25.

Division of Biology and Biomedical Sciences, Washington University School of Medicine, St Louis, Missouri, USA.

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May 2014

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Am J Hum Genet 2014 Mar 20;94(3):373-84. Epub 2014 Feb 20.

Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA. Electronic address:

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March 2014

Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness.

Arterioscler Thromb Vasc Biol 2014 Jan 7;34(1):219-25. Epub 2013 Nov 7.

From the John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics (L.W., A.B., S.H.B., R.L.S.), Department of Neurology (T.R., S.H.B., R.L.S., C.D.), Department of Public Health Sciences (T.R., R.L.S.), and Department of Medicine (B.H.), Miller School of Medicine, University of Miami, FL; and Department of Biostatistics, Yale School of Public Health, Yale University, New Haven, CT (H.Z.).

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January 2014

Response to letter regarding article, "Traditional risk factors are not major contributors to the variance in carotid intima-media thickness".

Stroke 2013 Dec 5;44(12):e236. Epub 2013 Nov 5.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL.

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December 2013

Traditional risk factors are not major contributors to the variance in carotid intima-media thickness.

Stroke 2013 Aug 23;44(8):2101-8. Epub 2013 May 23.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, USA.

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August 2013

Next-generation sequencing in genetic hearing loss.

Genet Test Mol Biomarkers 2013 Aug 5;17(8):581-7. Epub 2013 Jun 5.

Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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August 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.

John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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May 2013

Association between variations in coagulation system genes and carotid plaque.

J Neurol Sci 2012 Dec 13;323(1-2):93-8. Epub 2012 Sep 13.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, USA.

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December 2012

Association of the sirtuin and mitochondrial uncoupling protein genes with carotid intima-media thickness.

Transl Res 2012 Nov 29;160(5):389-90. Epub 2012 Jun 29.

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

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November 2012

The use of a family history risk assessment tool within a community health care system: views of primary care providers.

J Genet Couns 2012 Oct 21;21(5):652-61. Epub 2012 Jan 21.

The Center for Biotechnology, Genomics and Health Research, The University of North Carolina at Greensboro, USA.

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October 2012

Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans.

Atherosclerosis 2012 Jul 27;223(1):177-83. Epub 2012 Mar 27.

Department of Neurology, Miller School of Medicine, University of Miami, FL, USA.

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July 2012

Traditional cardiovascular risk factors explain the minority of the variability in carotid plaque.

Stroke 2012 Jul 1;43(7):1755-60. Epub 2012 May 1.

Department of Neurology, Miller School of Medicine, University of Miami, Clinical Research Building, CRB 1348, 1120 NW 14th Street, Miami, FL 33136, USA.

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July 2012

Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

Birth Defects Res A Clin Mol Teratol 2012 Jul 22;94(7):540-8. Epub 2012 Jun 22.

Department of Oral Biology and Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pennsylvania, USA.

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July 2012

Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque.

PLoS One 2011 7;6(11):e27157. Epub 2011 Nov 7.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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May 2012

Fine mapping study reveals novel candidate genes for carotid intima-media thickness in Dominican Republican families.

Circ Cardiovasc Genet 2012 Apr 14;5(2):234-41. Epub 2012 Mar 14.

John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics, Department of Neurology, Epidemiology and Public Health, Miller School of Medicine, University of Miami, 1120 NW 14th St., Miami, FL 33136, USA.

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April 2012

Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics.

J Lipid Res 2011 Jul 10;52(7):1411-9. Epub 2011 May 10.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, USA.

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July 2011

A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes.

BMC Med Genet 2011 Jul 26;12:100. Epub 2011 Jul 26.

Department of Neurology, Evelyn F. McKnight Brain Institute, Miller School of Medicine, University of Miami, Miami, FL, USA.

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July 2011

Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.

Am J Med Genet A 2011 Jun 12;155A(6):1469-71. Epub 2011 May 12.

Department of Pediatrics, University of Texas Medical School at Houston, USA.

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June 2011

Genetic causes of nonsyndromic cleft lip with or without cleft palate.

Adv Otorhinolaryngol 2011 24;70:107-13. Epub 2011 Feb 24.

Department of Pediatrics, University of Texas Medical School at Houston, Houston, Tex., USA.

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May 2011

Vestibular dysfunction in DFNB1 deafness.

Am J Med Genet A 2011 May 4;155A(5):993-1000. Epub 2011 Apr 4.

Department of Otolaryngology, Virginia Commonwealth University, Richmond, USA.

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May 2011

Carotid plaque and candidate genes related to inflammation and endothelial function in Hispanics from northern Manhattan.

Stroke 2011 Apr 10;42(4):889-96. Epub 2011 Mar 10.

Department of Neurology, University of Miami, Miller School of Medicine, PO Box 016960 (M-877), Miami, FL 33101, USA.

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April 2011

A candidate gene study revealed sex-specific association between the OLR1 gene and carotid plaque.

Stroke 2011 Mar 21;42(3):588-92. Epub 2011 Jan 21.

Dr John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Clinical Research Building, Suite #CRB-13, 1120 NW 14th Street, Miami, FL 33136, USA.

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March 2011

Genome-wide linkage and peak-wide association study of obesity-related quantitative traits in Caribbean Hispanics.

Hum Genet 2011 Feb 21;129(2):209-19. Epub 2010 Nov 21.

Department of Neurology, Miller School of Medicine, University of Miami, Miami, 1120 NW 14th Street, FL 33136, USA.

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February 2011

Smoking, the xenobiotic pathway, and clubfoot.

Birth Defects Res A Clin Mol Teratol 2011 Jan 1;91(1):20-8. Epub 2010 Dec 1.

Department of Pediatrics, University of Texas Medical School at Houston, 6431 Fannin Street, Houston, TX 77030, USA.

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January 2011

Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.

Birth Defects Res A Clin Mol Teratol 2011 Jan 15;91(1):44-9. Epub 2010 Nov 15.

Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA.

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January 2011

Folate pathway and nonsyndromic cleft lip and palate.

Birth Defects Res A Clin Mol Teratol 2011 Jan 1;91(1):50-60. Epub 2010 Dec 1.

University of Miami Miller School of Medicine, Miami, Florida, USA.

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January 2011

Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics.

Stroke 2010 Dec 21;41(12):2750-6. Epub 2010 Oct 21.

Evelyn F. McKnight Center for Age-Related Memory Loss, Department of Neurology, Miller Schoolof Medicine, University of Miami, Miami, FL, USA.

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December 2010

Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate.

Cleft Palate Craniofac J 2010 Nov;47(6):574-7

University of Miami, Miller School of Medicine, Miami, Florida, USA.

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November 2010

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Hum Genet 2010 Oct 9;128(4):365-71. Epub 2010 Jul 9.

Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.

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October 2010

A comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in 17p10.

Circ Cardiovasc Genet 2010 Aug 19;3(4):386-92. Epub 2010 Jun 19.

John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.

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August 2010

Genetic linkage of serum homocysteine in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis.

Stroke 2010 Jul 20;41(7):1356-62. Epub 2010 May 20.

Department of Neurology, Miller School of Medicine, University of Miami, Clinical Research Building, Miami, Fla 33136, USA.

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July 2010

Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.

Birth Defects Res A Clin Mol Teratol 2010 Apr;88(4):256-9

University of Miami, Miller School of Medicine, Miami, FL, USA.

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April 2010

Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University.

Ann Hum Genet 2010 Jan 20;74(1):27-33. Epub 2009 Nov 20.

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

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January 2010

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.

Am J Med Genet A 2009 Dec;149A(12):2745-52

Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX, USA.

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December 2009

Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis.

BMC Med Genet 2009 Jul 23;10:74. Epub 2009 Jul 23.

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

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July 2009

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

Eur J Hum Genet 2009 Feb 20;17(2):195-204. Epub 2008 Aug 20.

Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX 77225, USA.

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February 2009

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Am J Hum Genet 2009 Feb;84(2):286-90

Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India.

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February 2009

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.

Hum Mol Genet 2008 Jul 14;17(14):2212-8. Epub 2008 Apr 14.

University of Texas Medical School, Houston, TX 77030, USA.

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July 2008

NAT2 variation and idiopathic talipes equinovarus (clubfoot).

Am J Med Genet A 2007 Oct;143A(19):2285-91

Department of Pediatrics, University of Texas Medical School, Houston, Texas 77225, USA.

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October 2007

Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot).

Clin Orthop Relat Res 2007 Sep;462:32-7

University of Texas Health Science Center, Houston Graduate School of Biomedical Sciences, Houston, TX, USA.

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September 2007

CRISPLD2: a novel NSCLP candidate gene.

Hum Mol Genet 2007 Sep 5;16(18):2241-8. Epub 2007 Jul 5.

Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA.

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September 2007

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2006 Oct;47(10):4579-88

Human Genetics Center, The University of Texas Health Science Center at Houston, TX 77030, USA.

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October 2006