Konrad Oexle

Konrad Oexle

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Konrad Oexle

Publications by authors named "Konrad Oexle"

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[Exome diagnostics in neurology].

Nervenarzt 2019 Feb;90(2):131-137

Institut für Neurogenomik, Helmholtz Zentrum München, München, Deutschland.

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http://link.springer.com/10.1007/s00115-018-0667-1
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http://dx.doi.org/10.1007/s00115-018-0667-1DOI Listing
February 2019

Power versus phenotyping precision of genome-wide association studies on sleep traits.

Authors:
Konrad Oexle

Sleep 2018 11;41(11)

Institute of Neurogenomics, Neurogenetic Systems Analysis Unit, Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.1093/sleep/zsy211DOI Listing
November 2018

Common Grounds for Family Maladies.

Neuron 2018 05;98(4):671-672

Institute of Neurogenomics, Helmholtz Center Munich, Munich, Germany; Munich Cluster of Systems Neurology (Synergy); Institute of Human Genetics and Department of Neurology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.05.006DOI Listing
May 2018

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Lancet Neurol 2017 11;16(11):898-907

Institute of Neurogenomics, Helmholtz Zentrum München, German Research Centre for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Neurologische Klinik und Poliklinik, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30327-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755468PMC
November 2017

Iron and restless legs syndrome: treatment, genetics and pathophysiology.

Sleep Med 2017 03 10;31:61-70. Epub 2016 Nov 10.

The Johns Hopkins University, Dep of neuroloy, Baltimore, MD USA.

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http://dx.doi.org/10.1016/j.sleep.2016.07.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334282PMC
March 2017

Evaluation of the evenness score in next-generation sequencing.

Authors:
Konrad Oexle

J Hum Genet 2016 Jul 14;61(7):627-32. Epub 2016 Apr 14.

Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1038/jhg.2016.21DOI Listing
July 2016

Clinical sequencing: is WGS the better WES?

Hum Genet 2016 Mar 7;135(3):359-62. Epub 2016 Jan 7.

Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, 8952, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00439-015-1631-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757617PMC
March 2016

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Authors:
Qiao Fan Virginie J M Verhoeven Robert Wojciechowski Veluchamy A Barathi Pirro G Hysi Jeremy A Guggenheim René Höhn Veronique Vitart Anthony P Khawaja Kenji Yamashiro S Mohsen Hosseini Terho Lehtimäki Yi Lu Toomas Haller Jing Xie Cécile Delcourt Mario Pirastu Juho Wedenoja Puya Gharahkhani Cristina Venturini Masahiro Miyake Alex W Hewitt Xiaobo Guo Johanna Mazur Jenifer E Huffman Katie M Williams Ozren Polasek Harry Campbell Igor Rudan Zoran Vatavuk James F Wilson Peter K Joshi George McMahon Beate St Pourcain David M Evans Claire L Simpson Tae-Hwi Schwantes-An Robert P Igo Alireza Mirshahi Audrey Cougnard-Gregoire Céline Bellenguez Maria Blettner Olli Raitakari Mika Kähönen Ilkka Seppala Tanja Zeller Thomas Meitinger Janina S Ried Christian Gieger Laura Portas Elisabeth M van Leeuwen Najaf Amin André G Uitterlinden Fernando Rivadeneira Albert Hofman Johannes R Vingerling Ya Xing Wang Xu Wang Eileen Tai-Hui Boh M Kamran Ikram Charumathi Sabanayagam Preeti Gupta Vincent Tan Lei Zhou Candice E H Ho Wan'e Lim Roger W Beuerman Rosalynn Siantar E-Shyong Tai Eranga Vithana Evelin Mihailov Chiea-Chuen Khor Caroline Hayward Robert N Luben Paul J Foster Barbara E K Klein Ronald Klein Hoi-Suen Wong Paul Mitchell Andres Metspalu Tin Aung Terri L Young Mingguang He Olavi Pärssinen Cornelia M van Duijn Jie Jin Wang Cathy Williams Jost B Jonas Yik-Ying Teo David A Mackey Konrad Oexle Nagahisa Yoshimura Andrew D Paterson Norbert Pfeiffer Tien-Yin Wong Paul N Baird Dwight Stambolian Joan E Bailey Wilson Ching-Yu Cheng Christopher J Hammond Caroline C W Klaver Seang-Mei Saw Jugnoo S Rahi Jean-François Korobelnik John P Kemp Nicholas J Timpson George Davey Smith Jamie E Craig Kathryn P Burdon Rhys D Fogarty Sudha K Iyengar Emily Chew Sarayut Janmahasatian Nicholas G Martin Stuart MacGregor Liang Xu Maria Schache Vinay Nangia Songhomitra Panda-Jonas Alan F Wright Jeremy R Fondran Jonathan H Lass Sheng Feng Jing Hua Zhao Kay-Tee Khaw Nick J Wareham Taina Rantanen Jaakko Kaprio Chi Pui Pang Li Jia Chen Pancy O Tam Vishal Jhanji Alvin L Young Angela Döring Leslie J Raffel Mary-Frances Cotch Xiaohui Li Shea Ping Yip Maurice K H Yap Ginevra Biino Simona Vaccargiu Maurizio Fossarello Brian Fleck Seyhan Yazar Jan Willem L Tideman Milly Tedja Margaret M Deangelis Margaux Morrison Lindsay Farrer Xiangtian Zhou Wei Chen Nobuhisa Mizuki Akira Meguro Kari Matti Mäkelä

Nat Commun 2016 Mar 29;7:11008. Epub 2016 Mar 29.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ncomms11008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820539PMC
March 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Biomarkers of iron metabolism are independently associated with impaired glucose metabolism and type 2 diabetes: the KORA F4 study.

Eur J Endocrinol 2015 Nov 20;173(5):643-53. Epub 2015 Aug 20.

Institute of Epidemiology IIHelmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße 1, D-85764 Neuherberg, GermanyGerman Center for Diabetes Research (DZD)Partner Neuherberg, GermanyMONICA/KORA Myocardial Infarction RegistryCentral Hospital of Augsburg, Augsburg, GermanyInstitute for Clinical DiabetologyGerman Diabetes Center, Leibniz Center for Diabetes Research, Heinrich Heine University Düsseldorf, Düsseldorf, GermanyGerman Center for Diabetes Research (DZD)Partner Düsseldorf, GermanyInstitute of Laboratory MedicineClinical Chemistry and Molecular Diagnostics, University Leipzig, Leipzig, GermanyDepartment of Internal Medicine II - CardiologyUniversity of Ulm Medical Center, Ulm, GermanyDivision of Genetic EpidemiologyDepartment of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, AustriaInstitute of Human GeneticsKlinikum Rechts der Isar, Technische Universität München, Munich, GermanyInstitute of Biometrics and EpidemiologyGerman Diabetes Center, Leibniz Center for Diabetes Research, Heinrich Heine University Düsseldorf, Düsseldorf, GermanyDepartment of Endocrinology and DiabetologyMedical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, GermanyMedizinische Klinik und Poliklinik IVDiabetes Zentrum - Campus Innenstadt, Klinikum der Ludwig-Maximilians-Universität, München, GermanyClinical Cooperation Group DiabetesLudwig-Maximilians-Universität München and Helmholtz Zentrum München, München, Germany Institute of Epidemiology IIHelmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße 1, D-85764 Neuherberg, GermanyGerman Center for Diabetes Research (DZD)Partner Neuherberg, GermanyMONICA/KORA Myocardial Infarction RegistryCentral Hospital of Augsburg, Augsburg, GermanyInstitute for Clinical DiabetologyGerman Diabetes Center, Leibniz Center for Diabetes Research, Heinrich Heine University

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http://www.eje-online.org/content/early/2015/08/20/EJE-15-06
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http://www.eje-online.org/content/173/5/643.full.pdf
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http://www.eje-online.org/lookup/doi/10.1530/EJE-15-0631
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http://dx.doi.org/10.1530/EJE-15-0631DOI Listing
November 2015

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome.

Thromb Haemost 2015 Mar 18;113(3):668-70. Epub 2014 Dec 18.

Dr. Christian Weber, Institute for Cardiovascular Prevention, Ludwig-Maximilians-University, Munich, Pettenkoferstr. 9, 80336 Munich, Germany, Tel.:+ 49 89 44005 4350, E-mail:

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http://dx.doi.org/10.1160/TH14-11-0913DOI Listing
March 2015

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Hum Genet 2015 Feb 4;134(2):131-46. Epub 2014 Nov 4.

National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA.

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http://dx.doi.org/10.1007/s00439-014-1500-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291519PMC
February 2015

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Mov Disord 2014 Oct 20;29(12):1504-10. Epub 2014 Aug 20.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.25981DOI Listing
October 2014

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nat Commun 2014 Oct 29;5:4926. Epub 2014 Oct 29.

QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.

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http://dx.doi.org/10.1038/ncomms5926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215164PMC
October 2014

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PLoS One 2013 30;8(12):e82879. Epub 2013 Dec 30.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany ; Institut für Humangenetik, Technische Universität München, Munich, Germany ; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany ; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875432PMC
September 2014

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

Am J Med Genet A 2014 Aug 5;164A(8):2141-3. Epub 2014 May 5.

Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36593DOI Listing
August 2014

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Am J Med Genet A 2013 Dec 16;161A(12):3144-9. Epub 2013 Aug 16.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36155DOI Listing
December 2013

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

J Med Genet 2013 Dec 17;50(12):848-58. Epub 2013 Oct 17.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2013-101774DOI Listing
December 2013

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Orphanet J Rare Dis 2013 Nov 14;8:178. Epub 2013 Nov 14.

Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin 13353, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225825PMC
November 2013

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Authors:
Ching-Yu Cheng Maria Schache M Kamran Ikram Terri L Young Jeremy A Guggenheim Veronique Vitart Stuart MacGregor Virginie J M Verhoeven Veluchamy A Barathi Jiemin Liao Pirro G Hysi Joan E Bailey-Wilson Beate St Pourcain John P Kemp George McMahon Nicholas J Timpson David M Evans Grant W Montgomery Aniket Mishra Ya Xing Wang Jie Jin Wang Elena Rochtchina Ozren Polasek Alan F Wright Najaf Amin Elisabeth M van Leeuwen James F Wilson Craig E Pennell Cornelia M van Duijn Paulus T V M de Jong Johannes R Vingerling Xin Zhou Peng Chen Ruoying Li Wan-Ting Tay Yingfeng Zheng Merwyn Chew Kathryn P Burdon Jamie E Craig Sudha K Iyengar Robert P Igo Jonathan H Lass Emily Y Chew Toomas Haller Evelin Mihailov Andres Metspalu Juho Wedenoja Claire L Simpson Robert Wojciechowski René Höhn Alireza Mirshahi Tanja Zeller Norbert Pfeiffer Karl J Lackner Thomas Bettecken Thomas Meitinger Konrad Oexle Mario Pirastu Laura Portas Abhishek Nag Katie M Williams Ekaterina Yonova-Doing Ronald Klein Barbara E Klein S Mohsen Hosseini Andrew D Paterson Kari-Matti Makela Terho Lehtimaki Mika Kahonen Olli Raitakari Nagahisa Yoshimura Fumihiko Matsuda Li Jia Chen Chi Pui Pang Shea Ping Yip Maurice K H Yap Akira Meguro Nobuhisa Mizuki Hidetoshi Inoko Paul J Foster Jing Hua Zhao Eranga Vithana E-Shyong Tai Qiao Fan Liang Xu Harry Campbell Brian Fleck Igor Rudan Tin Aung Albert Hofman André G Uitterlinden Goran Bencic Chiea-Chuen Khor Hannah Forward Olavi Pärssinen Paul Mitchell Fernando Rivadeneira Alex W Hewitt Cathy Williams Ben A Oostra Yik-Ying Teo Christopher J Hammond Dwight Stambolian David A Mackey Caroline C W Klaver Tien-Yin Wong Seang-Mei Saw Paul N Baird

Am J Hum Genet 2013 Aug;93(2):264-77

Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore; Centre for Quantitative Medicine, Office of Clinical Sciences, Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772747PMC
August 2013

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.

Am J Med Genet A 2013 Jun 23;161A(6):1421-4. Epub 2013 Apr 23.

Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35883DOI Listing
June 2013

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Authors:
Virginie J M Verhoeven Pirro G Hysi Robert Wojciechowski Qiao Fan Jeremy A Guggenheim René Höhn Stuart MacGregor Alex W Hewitt Abhishek Nag Ching-Yu Cheng Ekaterina Yonova-Doing Xin Zhou M Kamran Ikram Gabriëlle H S Buitendijk George McMahon John P Kemp Beate St Pourcain Claire L Simpson Kari-Matti Mäkelä Terho Lehtimäki Mika Kähönen Andrew D Paterson S Mohsen Hosseini Hoi Suen Wong Liang Xu Jost B Jonas Olavi Pärssinen Juho Wedenoja Shea Ping Yip Daniel W H Ho Chi Pui Pang Li Jia Chen Kathryn P Burdon Jamie E Craig Barbara E K Klein Ronald Klein Toomas Haller Andres Metspalu Chiea-Chuen Khor E-Shyong Tai Tin Aung Eranga Vithana Wan-Ting Tay Veluchamy A Barathi Peng Chen Ruoying Li Jiemin Liao Yingfeng Zheng Rick T Ong Angela Döring David M Evans Nicholas J Timpson Annemieke J M H Verkerk Thomas Meitinger Olli Raitakari Felicia Hawthorne Tim D Spector Lennart C Karssen Mario Pirastu Federico Murgia Wei Ang Aniket Mishra Grant W Montgomery Craig E Pennell Phillippa M Cumberland Ioana Cotlarciuc Paul Mitchell Jie Jin Wang Maria Schache Sarayut Janmahasatian Sarayut Janmahasathian Robert P Igo Jonathan H Lass Emily Chew Sudha K Iyengar Theo G M F Gorgels Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Zoran Vatavuk James F Wilson Brian Fleck Tanja Zeller Alireza Mirshahi Christian Müller André G Uitterlinden Fernando Rivadeneira Johannes R Vingerling Albert Hofman Ben A Oostra Najaf Amin Arthur A B Bergen Yik-Ying Teo Jugnoo S Rahi Veronique Vitart Cathy Williams Paul N Baird Tien-Yin Wong Konrad Oexle Norbert Pfeiffer David A Mackey Terri L Young Cornelia M van Duijn Seang-Mei Saw Joan E Bailey-Wilson Dwight Stambolian Caroline C Klaver Christopher J Hammond

Nat Genet 2013 Mar 10;45(3):314-8. Epub 2013 Feb 10.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740568PMC
March 2013

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.

Eur J Med Genet 2012 Oct 7;55(10):568-72. Epub 2012 Jul 7.

Institut für Humangenetik, Klinikum rechts der Isar, TU München, Trogerstr. 32, 81675 München, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.010DOI Listing
October 2012

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Authors:
Virginie J M Verhoeven Pirro G Hysi Seang-Mei Saw Veronique Vitart Alireza Mirshahi Jeremy A Guggenheim Mary Frances Cotch Kenji Yamashiro Paul N Baird David A Mackey Robert Wojciechowski M Kamran Ikram Alex W Hewitt Priya Duggal Sarayut Janmahasatian Chiea-Chuen Khor Qiao Fan Xin Zhou Terri L Young E-Shyong Tai Liang-Kee Goh Yi-Ju Li Tin Aung Eranga Vithana Yik-Ying Teo Wanting Tay Xueling Sim Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Harry Campbell James F Wilson Brian W Fleck Isao Nakata Nagahisa Yoshimura Ryo Yamada Fumihiko Matsuda Kyoko Ohno-Matsui Abhishek Nag George McMahon Beate St Pourcain Yi Lu Jugnoo S Rahi Phillippa M Cumberland Shomi Bhattacharya Claire L Simpson Larry D Atwood Xiaohui Li Leslie J Raffel Federico Murgia Laura Portas Dominiek D G Despriet Leonieke M E van Koolwijk Christian Wolfram Karl J Lackner Anke Tönjes Reedik Mägi Terho Lehtimäki Mika Kähönen Tõnu Esko Andres Metspalu Taina Rantanen Olavi Pärssinen Barbara E Klein Thomas Meitinger Timothy D Spector Ben A Oostra Albert V Smith Paulus T V M de Jong Albert Hofman Najaf Amin Lennart C Karssen Fernando Rivadeneira Johannes R Vingerling Guðný Eiríksdóttir Vilmundur Gudnason Angela Döring Thomas Bettecken André G Uitterlinden Cathy Williams Tanja Zeller Raphaële Castagné Konrad Oexle Cornelia M van Duijn Sudha K Iyengar Paul Mitchell Jie Jin Wang René Höhn Norbert Pfeiffer Joan E Bailey-Wilson Dwight Stambolian Tien-Yin Wong Christopher J Hammond Caroline C W Klaver

Hum Genet 2012 Sep 5;131(9):1467-80. Epub 2012 Jun 5.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-012-1176-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418496PMC
September 2012

Familial pineocytoma.

Acta Neurochir (Wien) 2012 Aug 15;154(8):1413-6. Epub 2012 Jun 15.

Neurochirurgische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaningerstr. 22, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s00701-012-1402-5DOI Listing
August 2012

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes.

Genet Epidemiol 2012 Apr;36(3):244-52

Institute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Ingolstadter Landstraße 1, Neuherberg, Germany.

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http://dx.doi.org/10.1002/gepi.21617DOI Listing
April 2012

Sampling GWAS subjects from risk populations.

Genet Epidemiol 2011 Apr 16;35(3):148-53. Epub 2011 Feb 16.

Institute of Human Genetics, Klinikum rechts der Isar, TU München, Munich, Germany.

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http://dx.doi.org/10.1002/gepi.20562DOI Listing
April 2011

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.

Authors:
Nicole Soranzo Serena Sanna Eleanor Wheeler Christian Gieger Dörte Radke Josée Dupuis Nabila Bouatia-Naji Claudia Langenberg Inga Prokopenko Elliot Stolerman Manjinder S Sandhu Matthew M Heeney Joseph M Devaney Muredach P Reilly Sally L Ricketts Alexandre F R Stewart Benjamin F Voight Christina Willenborg Benjamin Wright David Altshuler Dan Arking Beverley Balkau Daniel Barnes Eric Boerwinkle Bernhard Böhm Amélie Bonnefond Lori L Bonnycastle Dorret I Boomsma Stefan R Bornstein Yvonne Böttcher Suzannah Bumpstead Mary Susan Burnett-Miller Harry Campbell Antonio Cao John Chambers Robert Clark Francis S Collins Josef Coresh Eco J C de Geus Mariano Dei Panos Deloukas Angela Döring Josephine M Egan Roberto Elosua Luigi Ferrucci Nita Forouhi Caroline S Fox Christopher Franklin Maria Grazia Franzosi Sophie Gallina Anuj Goel Jürgen Graessler Harald Grallert Andreas Greinacher David Hadley Alistair Hall Anders Hamsten Caroline Hayward Simon Heath Christian Herder Georg Homuth Jouke-Jan Hottenga Rachel Hunter-Merrill Thomas Illig Anne U Jackson Antti Jula Marcus Kleber Christopher W Knouff Augustine Kong Jaspal Kooner Anna Köttgen Peter Kovacs Knut Krohn Brigitte Kühnel Johanna Kuusisto Markku Laakso Mark Lathrop Cécile Lecoeur Man Li Mingyao Li Ruth J F Loos Jian'an Luan Valeriya Lyssenko Reedik Mägi Patrik K E Magnusson Anders Mälarstig Massimo Mangino María Teresa Martínez-Larrad Winfried März Wendy L McArdle Ruth McPherson Christa Meisinger Thomas Meitinger Olle Melander Karen L Mohlke Vincent E Mooser Mario A Morken Narisu Narisu David M Nathan Matthias Nauck Chris O'Donnell Konrad Oexle Nazario Olla James S Pankow Felicity Payne John F Peden Nancy L Pedersen Leena Peltonen Markus Perola Ozren Polasek Eleonora Porcu Daniel J Rader Wolfgang Rathmann Samuli Ripatti Ghislain Rocheleau Michael Roden Igor Rudan Veikko Salomaa Richa Saxena David Schlessinger Heribert Schunkert Peter Schwarz Udo Seedorf Elizabeth Selvin Manuel Serrano-Ríos Peter Shrader Angela Silveira David Siscovick Kjioung Song Timothy D Spector Kari Stefansson Valgerdur Steinthorsdottir David P Strachan Rona Strawbridge Michael Stumvoll Ida Surakka Amy J Swift Toshiko Tanaka Alexander Teumer Gudmar Thorleifsson Unnur Thorsteinsdottir Anke Tönjes Gianluca Usala Veronique Vitart Henry Völzke Henri Wallaschofski Dawn M Waterworth Hugh Watkins H-Erich Wichmann Sarah H Wild Gonneke Willemsen Gordon H Williams James F Wilson Juliane Winkelmann Alan F Wright Carina Zabena Jing Hua Zhao Stephen E Epstein Jeanette Erdmann Hakon H Hakonarson Sekar Kathiresan Kay-Tee Khaw Robert Roberts Nilesh J Samani Mark D Fleming Robert Sladek Gonçalo Abecasis Michael Boehnke Philippe Froguel Leif Groop Mark I McCarthy W H Linda Kao Jose C Florez Manuela Uda Nicholas J Wareham Inês Barroso James B Meigs

Diabetes 2010 Dec 21;59(12):3229-39. Epub 2010 Sep 21.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, U.K.

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http://dx.doi.org/10.2337/db10-0502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992787PMC
December 2010

A remark on rare variants.

Authors:
Konrad Oexle

J Hum Genet 2010 Apr 5;55(4):219-26. Epub 2010 Mar 5.

Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1038/jhg.2010.9DOI Listing
April 2010

Useful probability considerations in genetics: the goat problem with tigers and other applications of Bayes' theorem.

Authors:
Konrad Oexle

Eur J Pediatr 2006 May 7;165(5):299-305. Epub 2006 Feb 7.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s00431-005-0039-2DOI Listing
May 2006

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information.

Authors:
Konrad Oexle

J Hum Genet 2006 2;51(3):204-8. Epub 2006 Feb 2.

Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1007/s10038-005-0345-6DOI Listing
April 2006

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Eur J Med Genet 2005 Jul-Sep;48(3):328-38

Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Fetscherstr. 74, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.024DOI Listing
November 2005

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

Eur J Pediatr 2005 Mar 19;164(3):154-7. Epub 2004 Nov 19.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://link.springer.com/10.1007/s00431-004-1583-x
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http://dx.doi.org/10.1007/s00431-004-1583-xDOI Listing
March 2005

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Eur J Pediatr 2003 Oct 19;162(10):714-8. Epub 2003 Aug 19.

Nijmegen Centrer for Mitochondrial Disorders, University Medical Centre Nijmegen, Department of Paediatrics, Geert Grooteplein 10, 9101, 6500HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-003-1282-zDOI Listing
October 2003

Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency.

Mol Genet Metab 2002 May;76(1):71-5

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1016/s1096-7192(02)00025-2DOI Listing
May 2002