Peter Nürnberg

Peter Nürnberg

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Peter Nürnberg

Publications by authors named "Peter Nürnberg"

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Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Exp Neurol 2019 Oct 24;320:112958. Epub 2019 May 24.

John van Geest Centre for Brain Repair, University of Cambridge, ED Adrian Building, Forvie Site, Robinson Way, Cambridge CB2 0PY, UK; Babraham Institute, Babraham Research Campus, Babraham, Cambridge CB22 3AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2019.112958DOI Listing
October 2019

Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia.

J Leukoc Biol 2019 Jul 7. Epub 2019 Jul 7.

Center for Experimental Molecular Medicine, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/JLB.4A0219-050RDOI Listing
July 2019

Homozygosity for the c.428delG variant in in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

J Med Genet 2019 Apr 17;56(4):261-264. Epub 2018 Aug 17.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105470
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http://dx.doi.org/10.1136/jmedgenet-2018-105470DOI Listing
April 2019

Capturing colorectal cancer inter-tumor heterogeneity in patient-derived xenograft (PDX) models.

Int J Cancer 2019 01 22;144(2):366-371. Epub 2018 Oct 22.

Laboratory for Experimental Oncology and Radiobiology (LEXOR), Center for Experimental Molecular Medicine (CEMM) and Cancer Center Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ijc.31767
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http://dx.doi.org/10.1002/ijc.31767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587871PMC
January 2019

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Epilepsia 2018 11 20;59(11):2145-2152. Epub 2018 Oct 20.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1111/epi.14579DOI Listing
November 2018

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

Audiol Neurootol 2017 10;22(1):30-40. Epub 2017 Jun 10.

Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1159/000474929DOI Listing
September 2018

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Late diagnosis of a truncating mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Center for Molecular Medicine Cologne (CMMC), 50931 Cologne, Germany.

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http://dx.doi.org/10.1101/mcs.a002139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793772PMC
February 2018

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Neurol Genet 2018 Feb 26;4(1):e210. Epub 2018 Jan 26.

Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820601PMC
February 2018

Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients.

Crit Care Med 2017 11;45(11):1854-1862

1Center for Experimental and Molecular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. 2The Center for Infection and Immunity, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. 3Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam, the Netherlands. 4Department of Intensive Care Medicine, University Medical Center Utrecht, Utrecht, the Netherlands. 5Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, the Netherlands. 6Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands. 7Department of Intensive Care, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. 8Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. 9Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany. 10Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. 11Division of Infectious Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/CCM.0000000000002649DOI Listing
November 2017

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Semi-automated cancer genome analysis using high-performance computing.

Hum Mutat 2017 10 17;38(10):1325-1335. Epub 2017 Jul 17.

Bioinformatics Core Facility, Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/humu.23275DOI Listing
October 2017

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

Am J Med Genet A 2017 Oct 17;173(10):2803-2807. Epub 2017 Aug 17.

Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38390DOI Listing
October 2017

Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study.

Lancet Respir Med 2017 10 29;5(10):816-826. Epub 2017 Aug 29.

Center for Experimental Molecular Medicine, Academic Medical Center, Amsterdam, Netherlands; Division of Infectious Diseases, Academic Medical Center, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S2213-2600(17)30294-1DOI Listing
October 2017

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Clin Genet 2017 09 30;92(3):342-343. Epub 2017 Mar 30.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1111/cge.12990DOI Listing
September 2017

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

Eur J Paediatr Neurol 2017 Sep 13;21(5):773-782. Epub 2017 May 13.

Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173161
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http://dx.doi.org/10.1016/j.ejpn.2017.05.001DOI Listing
September 2017

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

Am J Hum Genet 2017 Sep;101(3):417-427

Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science, University of Oxford, Botnar Research Centre, Windmill Road, Oxford OX3 7HE, UK; Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK; NIHR Biomedical Research Centre, NDORMS, University of Oxford, Botnar Research Centre, Windmill Road, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591021PMC
September 2017

Novel compound heterozygous mutations in in a patient with severe expression of You-Hoover-Fong syndrome.

Mol Genet Genomic Med 2017 Sep 28;5(5):580-584. Epub 2017 Jul 28.

Institute of Human GeneticsUniversity Medical Center GöttingenGöttingenGermany.

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http://doi.wiley.com/10.1002/mgg3.287
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http://dx.doi.org/10.1002/mgg3.287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606883PMC
September 2017

Securing the use of existing sample collections for future human genetic research.

Eur J Hum Genet 2017 05 1;25(5):522-529. Epub 2017 Feb 1.

Cologne Center for Genomics, Department of Statistical Genetics and Bioinformatics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/ejhg.2017.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437900PMC
May 2017

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

Eur J Cancer Prev 2017 03;26(2):165-169

aCenter for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty bCenter for Molecular Medicine Cologne (CMMC) cCologne Center for Genomics dInstitute for Human Genetics eCologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne fDepartment of Gynecology and Obstetrics, University Clinics of Münster, Münster gDepartment of Genomics, Life & Brain Center, University of Bonn, Bonn hDepartment of Gynaecology and Obstetrics, Klinikum rechts der Isar at the Technical University, Munich, Germany.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/CEJ.0000000000000240DOI Listing
March 2017

and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Authors:
Man Li Yong Li Olivia Weeks Vladan Mijatovic Alexander Teumer Jennifer E Huffman Gerard Tromp Christian Fuchsberger Mathias Gorski Leo-Pekka Lyytikäinen Teresa Nutile Sanaz Sedaghat Rossella Sorice Adrienne Tin Qiong Yang Tarunveer S Ahluwalia Dan E Arking Nathan A Bihlmeyer Carsten A Böger Robert J Carroll Daniel I Chasman Marilyn C Cornelis Abbas Dehghan Jessica D Faul Mary F Feitosa Giovanni Gambaro Paolo Gasparini Franco Giulianini Iris Heid Jinyan Huang Medea Imboden Anne U Jackson Janina Jeff Min A Jhun Ronit Katz Annette Kifley Tuomas O Kilpeläinen Ashish Kumar Markku Laakso Ruifang Li-Gao Kurt Lohman Yingchang Lu Reedik Mägi Giovanni Malerba Evelin Mihailov Karen L Mohlke Dennis O Mook-Kanamori Antonietta Robino Douglas Ruderfer Erika Salvi Ursula M Schick Christina-Alexandra Schulz Albert V Smith Jennifer A Smith Michela Traglia Laura M Yerges-Armstrong Wei Zhao Mark O Goodarzi Aldi T Kraja Chunyu Liu Jennifer Wessel Eric Boerwinkle Ingrid B Borecki Jette Bork-Jensen Erwin P Bottinger Daniele Braga Ivan Brandslund Jennifer A Brody Archie Campbell David J Carey Cramer Christensen Josef Coresh Errol Crook Gary C Curhan Daniele Cusi Ian H de Boer Aiko P J de Vries Joshua C Denny Olivier Devuyst Albert W Dreisbach Karlhans Endlich Tõnu Esko Oscar H Franco Tibor Fulop Glenn S Gerhard Charlotte Glümer Omri Gottesman Niels Grarup Vilmundur Gudnason Torben Hansen Tamara B Harris Caroline Hayward Lynne Hocking Albert Hofman Frank B Hu Lise Lotte N Husemoen Rebecca D Jackson Torben Jørgensen Marit E Jørgensen Mika Kähönen Sharon L R Kardia Wolfgang König Charles Kooperberg Jennifer Kriebel Lenore J Launer Torsten Lauritzen Terho Lehtimäki Daniel Levy Pamela Linksted Allan Linneberg Yongmei Liu Ruth J F Loos Antonio Lupo Christine Meisinger Olle Melander Andres Metspalu Paul Mitchell Matthias Nauck Peter Nürnberg Marju Orho-Melander Afshin Parsa Oluf Pedersen Annette Peters Ulrike Peters Ozren Polasek David Porteous Nicole M Probst-Hensch Bruce M Psaty Lu Qi Olli T Raitakari Alex P Reiner Rainer Rettig Paul M Ridker Fernando Rivadeneira Jacques E Rossouw Frank Schmidt David Siscovick Nicole Soranzo Konstantin Strauch Daniela Toniolo Stephen T Turner André G Uitterlinden Sheila Ulivi Dinesh Velayutham Uwe Völker Henry Völzke Melanie Waldenberger Jie Jin Wang David R Weir Daniel Witte Helena Kuivaniemi Caroline S Fox Nora Franceschini Wolfram Goessling Anna Köttgen Audrey Y Chu

J Am Soc Nephrol 2017 Mar 5;28(3):981-994. Epub 2016 Dec 5.

National Heart, Lung, and Blood Institute's Framingham Heart Study and the Center for Population Studies, Framingham, Massachusetts;

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http://dx.doi.org/10.1681/ASN.2016020131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328154PMC
March 2017

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

Am J Med Genet A 2017 Jan 18;173(1):264-267. Epub 2016 Oct 18.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.37999
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http://dx.doi.org/10.1002/ajmg.a.37999DOI Listing
January 2017

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.

Am J Med Genet A 2016 12 17;170(12):3282-3288. Epub 2016 Aug 17.

Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37931DOI Listing
December 2016

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness.

Stroke 2016 12 8;47(12):2904-2909. Epub 2016 Nov 8.

From the Institute of Medical Biometry and Statistics (IMBS), University of Lübeck, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany (N.H., M.V., A.Z.); Clinical Epidemiology, Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Germany (M.H.G., A.S.); Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Germany (M.H.G., R.E., K.-H.J., S.M.); Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Austria (S.C., F.K.); Institute of Human Genetics (S.H.) and Department of Epileptology (S.M.-H.), University of Bonn, Germany; Department of Genomics, Life & Brain Research Center, Bonn, Germany (S.H.); Institute of Occupational, Social and Environmental Medicine, Center for Health and Society, Faculty of Medicine, University of Düsseldorf, Germany (F.H., B.H.); Department of Neurology, University Hospital Bonn, Germany (S.M.-H., T.K.); Cologne Center of Genomics, University of Cologne, Germany (G.N., P.N.); Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Germany (M.V.); Center for Clinical Trials, University of Lübeck, Germany (A.Z.); and School of Mathematics, Statistics and Computer Science, University of KwaZulu-Natal, Pietermaritzburg, South Africa (A.Z.).

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http://dx.doi.org/10.1161/STROKEAHA.116.013943DOI Listing
December 2016

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Am J Med Genet A 2016 09 29;170(9):2436-9. Epub 2016 Jun 29.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37823DOI Listing
September 2016

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

Hum Mol Genet 2016 09 27;25(17):3836-3848. Epub 2016 Jul 27.

Institute for Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany

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http://dx.doi.org/10.1093/hmg/ddw230DOI Listing
September 2016

Association of diabetes and diabetes treatment with the host response in critically ill sepsis patients.

Crit Care 2016 Aug 6;20(1):252. Epub 2016 Aug 6.

Center for Experimental and Molecular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Room G2-130, 1105, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13054-016-1429-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975896PMC
August 2016

A large deletion in RPGR causes XLPRA in Weimaraner dogs.

Canine Genet Epidemiol 2016 8;3. Epub 2016 Jul 8.

Department of Human Genetics, Ruhr-University, Universitätsstraße 150, 44801 Bochum, Germany.

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http://dx.doi.org/10.1186/s40575-016-0037-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938961PMC
July 2016