Peter N Robinson

Peter N Robinson

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Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 Aug 15;14(1):200. Epub 2019 Aug 15.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1186/s13023-019-1156-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696684PMC
August 2019

Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data.

Genes (Basel) 2019 07 18;10(7). Epub 2019 Jul 18.

The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.

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http://dx.doi.org/10.3390/genes10070548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678864PMC
July 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 01 9;14(1). Epub 2019 Jan 9.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1186/s13023-018-0980-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327432PMC
January 2019

Harmonising phenomics information for a better interoperability in the rare disease field.

Eur J Med Genet 2018 Nov 7;61(11):706-714. Epub 2018 Feb 7.

INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.013DOI Listing
November 2018

Classification, Ontology, and Precision Medicine.

N Engl J Med 2018 10;379(15):1452-1462

From the Oregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, and the Linus Pauling Institute and the Center for Genome Research and Biocomputing, Oregon State University, Corvallis (M.A.H.); Johns Hopkins University Schools of Medicine, Public Health, and Nursing, Baltimore (C.G.C.); and the Jackson Laboratory for Genomic Medicine and the Institute for Systems Genomics, University of Connecticut - both in Farmington (P.N.R.).

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http://www.nejm.org/doi/10.1056/NEJMra1615014
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http://dx.doi.org/10.1056/NEJMra1615014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503847PMC
October 2018

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

Bone 2018 08 11;113:29-40. Epub 2018 Apr 11.

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183015
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http://dx.doi.org/10.1016/j.bone.2018.04.006DOI Listing
August 2018

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Hum Mutat 2018 02 14;39(2):197-201. Epub 2017 Dec 14.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.23374DOI Listing
February 2018

AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome.

Mol Ther Nucleic Acids 2017 Dec 20;9:69-79. Epub 2017 Sep 20.

Department of Cardiac Surgery, University Hospital Heidelberg, Heidelberg, Germany; INCCI HaerzZenter, Department of Cardiac Surgery, Luxembourg, Luxembourg.

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http://dx.doi.org/10.1016/j.omtn.2017.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608502PMC
December 2017

Biometric and structural ocular manifestations of Marfan syndrome.

PLoS One 2017 20;12(9):e0183370. Epub 2017 Sep 20.

Department of Ophthalmology, Charité -University Medicine Berlin, Augustenburger Platz 1, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183370PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607136PMC
October 2017

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.

BMC Bioinformatics 2017 Oct 12;18(1):449. Epub 2017 Oct 12.

Anacleto Lab - Dipartimento di Informatica, Universitá degli Studi di Milano, Via Comelico 39, Milan, 20135, Italy.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12859-017-1854-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639780PMC
October 2017

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173024
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http://dx.doi.org/10.1016/j.ajhg.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544382PMC
August 2017

Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease: From Simplification to Complexity to Simplicity?

Am J Med 2017 07 27;130(7):e315-e316. Epub 2017 Feb 27.

Department of Cardiology, University Heart Center Hamburg, Germany.

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http://dx.doi.org/10.1016/j.amjmed.2016.12.043DOI Listing
July 2017

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.

Sci Rep 2017 06 7;7(1):2959. Epub 2017 Jun 7.

Anacletolab, Dipartimento di Informatica, Università degli Studi di Milano, Via Comelico 39, 20135, Milan, Italy.

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http://dx.doi.org/10.1038/s41598-017-03011-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462751PMC
June 2017

[Diagnostics in human genetics : Integration of phenotypic and genomic data].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2017 May;60(5):542-549

The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, 06032, Farmington, USA.

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http://dx.doi.org/10.1007/s00103-017-2538-5DOI Listing
May 2017

Once doesn't count: Phenotype-driven gene hunting in cohorts.

Authors:
Peter N Robinson

Hum Mutat 2017 05;38(5):469

The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.

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http://dx.doi.org/10.1002/humu.23209DOI Listing
May 2017

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.

Bioinformatics 2017 01 26;33(1):72-78. Epub 2016 Aug 26.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btw550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408770PMC
January 2017

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.

Nucleic Acids Res 2017 01 18;45(D1):D68-D73. Epub 2016 Oct 18.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany

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http://dx.doi.org/10.1093/nar/gkw925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210629PMC
January 2017

Alternate-locus aware variant calling in whole genome sequencing.

Genome Med 2016 12 13;8(1):130. Epub 2016 Dec 13.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.

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http://dx.doi.org/10.1186/s13073-016-0383-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155401PMC
December 2016

Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus.

BMC Genomics 2016 11 4;17(1):873. Epub 2016 Nov 4.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.

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http://dx.doi.org/10.1186/s12864-016-3164-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097360PMC
November 2016

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Am J Hum Genet 2016 09 25;99(3):595-606. Epub 2016 Aug 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011059PMC
September 2016

An expanded evaluation of protein function prediction methods shows an improvement in accuracy.

Authors:
Yuxiang Jiang Tal Ronnen Oron Wyatt T Clark Asma R Bankapur Daniel D'Andrea Rosalba Lepore Christopher S Funk Indika Kahanda Karin M Verspoor Asa Ben-Hur Da Chen Emily Koo Duncan Penfold-Brown Dennis Shasha Noah Youngs Richard Bonneau Alexandra Lin Sayed M E Sahraeian Pier Luigi Martelli Giuseppe Profiti Rita Casadio Renzhi Cao Zhaolong Zhong Jianlin Cheng Adrian Altenhoff Nives Skunca Christophe Dessimoz Tunca Dogan Kai Hakala Suwisa Kaewphan Farrokh Mehryary Tapio Salakoski Filip Ginter Hai Fang Ben Smithers Matt Oates Julian Gough Petri Törönen Patrik Koskinen Liisa Holm Ching-Tai Chen Wen-Lian Hsu Kevin Bryson Domenico Cozzetto Federico Minneci David T Jones Samuel Chapman Dukka Bkc Ishita K Khan Daisuke Kihara Dan Ofer Nadav Rappoport Amos Stern Elena Cibrian-Uhalte Paul Denny Rebecca E Foulger Reija Hieta Duncan Legge Ruth C Lovering Michele Magrane Anna N Melidoni Prudence Mutowo-Meullenet Klemens Pichler Aleksandra Shypitsyna Biao Li Pooya Zakeri Sarah ElShal Léon-Charles Tranchevent Sayoni Das Natalie L Dawson David Lee Jonathan G Lees Ian Sillitoe Prajwal Bhat Tamás Nepusz Alfonso E Romero Rajkumar Sasidharan Haixuan Yang Alberto Paccanaro Jesse Gillis Adriana E Sedeño-Cortés Paul Pavlidis Shou Feng Juan M Cejuela Tatyana Goldberg Tobias Hamp Lothar Richter Asaf Salamov Toni Gabaldon Marina Marcet-Houben Fran Supek Qingtian Gong Wei Ning Yuanpeng Zhou Weidong Tian Marco Falda Paolo Fontana Enrico Lavezzo Stefano Toppo Carlo Ferrari Manuel Giollo Damiano Piovesan Silvio C E Tosatto Angela Del Pozo José M Fernández Paolo Maietta Alfonso Valencia Michael L Tress Alfredo Benso Stefano Di Carlo Gianfranco Politano Alessandro Savino Hafeez Ur Rehman Matteo Re Marco Mesiti Giorgio Valentini Joachim W Bargsten Aalt D J van Dijk Branislava Gemovic Sanja Glisic Vladmir Perovic Veljko Veljkovic Nevena Veljkovic Danillo C Almeida-E-Silva Ricardo Z N Vencio Malvika Sharan Jörg Vogel Lakesh Kansakar Shanshan Zhang Slobodan Vucetic Zheng Wang Michael J E Sternberg Mark N Wass Rachael P Huntley Maria J Martin Claire O'Donovan Peter N Robinson Yves Moreau Anna Tramontano Patricia C Babbitt Steven E Brenner Michal Linial Christine A Orengo Burkhard Rost Casey S Greene Sean D Mooney Iddo Friedberg Predrag Radivojac

Genome Biol 2016 09 7;17(1):184. Epub 2016 Sep 7.

Department of Computer Science and Informatics, Indiana University, Bloomington, IN, USA.

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http://dx.doi.org/10.1186/s13059-016-1037-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015320PMC
September 2016

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.

Database (Oxford) 2015 27;2015. Epub 2015 Oct 27.

The Insight Centre for Data Analytics, National University of Ireland, Galway, Ireland.

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http://dx.doi.org/10.1093/database/bav104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622021PMC
August 2016

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

Eur J Hum Genet 2016 08 10;24(9):1244-7. Epub 2016 Feb 10.

Ambulantes Gesundheitszentrum der Charité Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2016.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989216PMC
August 2016

Animal-based studies will be essential for precision medicine.

Sci Transl Med 2016 08;8(352):352ed12

K. C. Kent Lloyd is a professor at the Department of Surgery, School of Medicine, and the Director of the Mouse Biology Program, University of California, Davis, 2795 Second Street, Suite 400, Davis, CA 95618, USA. Email: N. Robinson is a professor at Charité Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany, and The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA. Email: A. MacRae is the Chief of cardiovascular medicine at Brigham and Women's Hospital and an associate professor of medicine at Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA. Email:

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http://dx.doi.org/10.1126/scitranslmed.aaf5474DOI Listing
August 2016

Erratum to: A systematic, large-scale comparison of transcription factor binding site models.

BMC Genomics 2016 07 20;17(1):502. Epub 2016 Jul 20.

Department of Neuropaediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1186/s12864-016-2818-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4952225PMC
July 2016

A systematic, large-scale comparison of transcription factor binding site models.

BMC Genomics 2016 05 21;17:388. Epub 2016 May 21.

Department of Neuropaediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1186/s12864-016-2729-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875604PMC
May 2016

Human genotype-phenotype databases: aims, challenges and opportunities.

Nat Rev Genet 2015 Dec 10;16(12):702-15. Epub 2015 Nov 10.

Institute for Medical Genetics and Human Genetics, and the Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.

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http://dx.doi.org/10.1038/nrg3932DOI Listing
December 2015

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.

Bioinformatics 2015 Nov 6;31(22):3577-83. Epub 2015 Aug 6.

Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany and.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btv457DOI Listing
November 2015

Disease insights through cross-species phenotype comparisons.

Mamm Genome 2015 Oct 20;26(9-10):548-55. Epub 2015 Jun 20.

Skarnes Faculty Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://dx.doi.org/10.1007/s00335-015-9577-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602072PMC
October 2015

The genomic birthday paradox: how much is enough?

Hum Mutat 2015 Oct 20;36(10):989-97. Epub 2015 Aug 20.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.

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http://dx.doi.org/10.1002/humu.22848DOI Listing
October 2015

Capturing phenotypes for precision medicine.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000372

Oregon Health and Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1101/mcs.a000372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850887PMC
October 2015

Automatic concept recognition using the human phenotype ontology reference and test suite corpora.

Database (Oxford) 2015 27;2015. Epub 2015 Feb 27.

School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informatics Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK, LASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal, Genetic Services of Western Australia, King Edward Memorial Hospital, WA 6008, Australia, School of Paediatrics and Child Health, University of Western Australia, WA 6008, Australia, Institute for Immunology and Infectious Diseases, Murdoch University, WA 6150, Australia, Office of Population Health, Public Health and Clinical Services Division, Western Australian Department of Health, WA 6004, Australia, Academic Department of Medical Genetics, Sydney Children's Hospitals Network (Westmead), NSW 2145, Australia, Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, NSW 2006, Australia, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany, Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany and Berlin Brandenburg Center for Regenerative Therapies, 13353 Berlin, Germany School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informa

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http://dx.doi.org/10.1093/database/bav005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343077PMC
September 2015

IMSEQ--a fast and error aware approach to immunogenetic sequence analysis.

Bioinformatics 2015 Sep 18;31(18):2963-71. Epub 2015 May 18.

Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Department of Computer Science, Freie Universität, Berlin, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany, Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel, Marien Hospital Herne, Ruhr University Bochum, Bochum and Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Department of Computer Science, Freie Universität, Berlin, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany, Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel, Marien Hospital Herne, Ruhr University Bochum, Bochum and Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Department of Computer Science, Freie Universität, Berlin, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany, Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel, Marien Hospital Herne, Ruhr University Bochum, Bochum and Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Department of Computer Science, Freie Universität, Berlin, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany, Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel, Marien Hospital Herne, Ruhr University Bochum, Bochum and Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btv309DOI Listing
September 2015

Saturation analysis of ChIP-seq data for reproducible identification of binding peaks.

Genome Res 2015 Sep 10;25(9):1391-400. Epub 2015 Jul 10.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany.

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http://genome.cshlp.org/content/suppl/2015/07/14/gr.189894.1
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http://genome.cshlp.org/lookup/doi/10.1101/gr.189894.115
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http://dx.doi.org/10.1101/gr.189894.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561497PMC
September 2015

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.

Nat Methods 2015 Sep 20;12(9):841-3. Epub 2015 Jul 20.

Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/nmeth.3484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718403PMC
September 2015

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Eur J Med Genet 2015 Aug 19;58(8):376-80. Epub 2015 Jun 19.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.05.007DOI Listing
August 2015

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.

Genome Med 2015 30;7(1):81. Epub 2015 Jul 30.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany ; Max Planck Institute for Molecular Genetics, Ihnestrasse, 14195 Berlin, Germany ; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Augustenburger Platz, 13353 Berlin, Germany ; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse, 14195 Berlin, Germany.

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http://dx.doi.org/10.1186/s13073-015-0199-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520011PMC
August 2015

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Am J Hum Genet 2015 Jul 25;97(1):111-24. Epub 2015 Jun 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507PMC
July 2015

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Eur J Hum Genet 2015 Jun 8;23(6):870-3. Epub 2014 Oct 8.

1] FG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany [2] Institute for Medical Genetics and Human Genetics, Universitätsmedizin Berlin, Charité Berlin - Campus Virchow, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795057PMC
June 2015

Analysis of Strengths, Weaknesses, Opportunities, and Threats as a Tool for Translating Evidence into Individualized Medical Strategies (I-SWOT).

Aorta (Stamford) 2015 Jun 1;3(3):98-107. Epub 2015 Jun 1.

German Aorta Centre of Hamburg, Centre of Cardiology and Cardiovascular Surgery, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.12945/j.aorta.2015.14.064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820345PMC
June 2015

MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling.

J Bone Miner Res 2015 May;30(5):796-808

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://doi.wiley.com/10.1002/jbmr.2412
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http://dx.doi.org/10.1002/jbmr.2412DOI Listing
May 2015

Capturing domain knowledge from multiple sources: the rare bone disorders use case.

J Biomed Semantics 2015 17;6:21. Epub 2015 Apr 17.

Children's Hospital, Westmead, The University of Sydney, Sydney, New South Wales Australia.

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http://dx.doi.org/10.1186/s13326-015-0008-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414390PMC
April 2015

Finding our way through phenotypes.

PLoS Biol 2015 Jan 6;13(1):e1002033. Epub 2015 Jan 6.

Department of Biology, University of South Dakota, Vermillion, South Dakota, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.1002033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285398PMC
January 2015

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Am J Med Genet A 2014 Dec 20;164A(12):3170-5. Epub 2014 Oct 20.

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36772DOI Listing
December 2014

Genomic data sharing for translational research and diagnostics.

Authors:
Peter N Robinson

Genome Med 2014 26;6(9):78. Epub 2014 Sep 26.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353 Germany ; Berlin Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353 Germany ; Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin, 14195 Germany ; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse 9, Berlin, 14195 Germany.

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http://dx.doi.org/10.1186/s13073-014-0078-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254431PMC
December 2014

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Mol Cell Biochem 2014 Nov 27;396(1-2):137-45. Epub 2014 Jul 27.

Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143005, Punjab, India,

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http://dx.doi.org/10.1007/s11010-014-2150-zDOI Listing
November 2014

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Bioinformatics 2014 Nov 30;30(22):3215-22. Epub 2014 Jul 30.

Mouse Informatics Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Genome Informatics Department, Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA, Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-701 Poznan, Poland, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin and Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany Mouse Informatics Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Genome Informatics Department, Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA, Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-701 Poznan, Poland, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin and Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany Mouse Informatics Group, The Wellcome Trust Sang

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://dx.doi.org/10.1093/bioinformatics/btu508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221119PMC
November 2014

Clinical interpretation of CNVs with cross-species phenotype data.

J Med Genet 2014 Nov 3;51(11):766-772. Epub 2014 Oct 3.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501634PMC
November 2014

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Sci Transl Med 2014 Sep;6(252):252ra123

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.

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http://dx.doi.org/10.1126/scitranslmed.3009262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639PMC
September 2014

The influence of disease categories on gene candidate predictions from model organism phenotypes.

J Biomed Semantics 2014 3;5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S4. Epub 2014 Jun 3.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA Hinxton, UK.

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http://dx.doi.org/10.1186/2041-1480-5-S1-S4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4108905PMC
August 2014

Jannovar: a java library for exome annotation.

Hum Mutat 2014 May 9;35(5):548-55. Epub 2014 Apr 9.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/humu.22531DOI Listing
May 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Phenotype ontologies and cross-species analysis for translational research.

PLoS Genet 2014 Apr 3;10(4):e1004268. Epub 2014 Apr 3.

MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1004268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974665PMC
April 2014

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Birth Defects Res A Clin Mol Teratol 2014 Apr 7;100(4):314-8. Epub 2014 Apr 7.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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http://dx.doi.org/10.1002/bdra.23239DOI Listing
April 2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

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

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http://www.cell.com/ajhg/pdf/S0002-9297(13)00582-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300582
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http://dx.doi.org/10.1016/j.ajhg.2013.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928656PMC
February 2014