Publications by authors named "Stefan Mundlos"

100Publications

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.

J Med Internet Res 2020 Oct 22;22(10):e19263. Epub 2020 Oct 22.

Institute of 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.

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http://dx.doi.org/10.2196/19263DOI Listing
October 2020

The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization.

Curr Opin Genet Dev 2020 Apr 19;61:1-8. Epub 2020 Mar 19.

RG Development & Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Charité - Universitätsmedizin Berlin, BCRT - Berlin Institute of Health Center for Regenerative Therapies, 10178 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2020.02.015DOI Listing
April 2020

Three-dimensional chromatin in disease: What holds us together and what drives us apart?

Curr Opin Cell Biol 2020 Jun 6;64:1-9. Epub 2020 Feb 6.

RG Development & Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Charité - Universitätsmedizin Berlin, BCRT - Berlin Institute of Health Center for Regenerative Therapies, 10178 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ceb.2020.01.003DOI Listing
June 2020

Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Eur J Med Genet 2020 Apr 4;63(4):103805. Epub 2019 Nov 4.

Centre de Génétique Humaine, CHU Besançon, Université de Franche -Comté, Besançon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103805DOI Listing
April 2020

Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 12 21;179(12):2393-2419. Epub 2019 Oct 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61366DOI Listing
December 2019

Lgr5 and Col22a1 Mark Progenitor Cells in the Lineage toward Juvenile Articular Chondrocytes.

Stem Cell Reports 2019 10 12;13(4):713-729. Epub 2019 Sep 12.

School of Biomedical Sciences, The University of Hong Kong, Faculty of Medicine Building, 21 Sassoon Road, Pokfulam, Hong Kong SAR, China; The University of Hong Kong - Shenzhen Institute of Research and Innovation (HKU- SIRI), Hi-Tech Industrial Park, Nanshan, Shenzhen, China. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829785PMC
October 2019

Jumping retroviruses nudge TADs apart.

Nat Genet 2019 09;51(9):1304-1305

RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1038/s41588-019-0491-yDOI Listing
September 2019

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Eur J Hum Genet 2019 12 18;27(12):1827-1835. Epub 2019 Jul 18.

Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41431-019-0469-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871132PMC
December 2019

Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D.

Mol Cell 2019 06;74(6):1110-1122

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

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http://dx.doi.org/10.1016/j.molcel.2019.05.032DOI Listing
June 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

promoter deletion causes endoactivation and Liebenberg syndrome.

J Med Genet 2019 04 2;56(4):246-251. Epub 2019 Feb 2.

Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2018-105793DOI Listing
April 2019

Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study.

Acta Biomater 2019 03 31;86:429-440. Epub 2018 Dec 31.

Julius Wolff Institute, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Department of Preventive and Restorative Dentistry, Charité-Universitätsmedizin Berlin, Assmanshauser Str 4-6, 14197 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.actbio.2018.12.050DOI Listing
March 2019

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.

Calcif Tissue Int 2018 11 26;103(5):512-521. Epub 2018 Jun 26.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00223-018-0447-8DOI Listing
November 2018

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

PLoS One 2018 7;13(6):e0198510. Epub 2018 Jun 7.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198510PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991660PMC
December 2018

Structural variation in the 3D genome.

Nat Rev Genet 2018 07;19(7):453-467

Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.

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http://www.nature.com/articles/s41576-018-0007-0
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http://dx.doi.org/10.1038/s41576-018-0007-0DOI Listing
July 2018

Polymer physics predicts the effects of structural variants on chromatin architecture.

Nat Genet 2018 05 16;50(5):662-667. Epub 2018 Apr 16.

Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.

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http://dx.doi.org/10.1038/s41588-018-0098-8DOI Listing
May 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

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

J Inherit Metab Dis 2018 05 5;41(3):533-539. Epub 2018 Apr 5.

Institute of Human Genetics and Medical Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1007/s10545-018-0174-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959962PMC
May 2018

Response to Peron et al.

Genet Med 2018 11;20(11):1481-1482

Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2018.20DOI Listing
November 2018

A Novel de novo Mutation in a Patient with Autosomal Dominant Omodysplasia.

Mol Syndromol 2017 Nov 8;8(6):318-324. Epub 2017 Sep 8.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000479721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701278PMC
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

The three-dimensional genome: regulating gene expression during pluripotency and development.

Development 2017 10;144(20):3646-3658

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany

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http://dx.doi.org/10.1242/dev.148304DOI Listing
October 2017

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Eur J Med Genet 2017 Aug 27;60(8):421-425. Epub 2017 May 27.

Institut Fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.05.004DOI Listing
August 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

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

J Hum Genet 2017 Feb 8;62(2):325-328. Epub 2016 Sep 8.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/jhg.2016.111DOI Listing
February 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

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

Looking beyond the genes: the role of non-coding variants in human disease.

Hum Mol Genet 2016 Oct 27;25(R2):R157-R165. Epub 2016 Jun 27.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany 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

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http://dx.doi.org/10.1093/hmg/ddw205DOI Listing
October 2016

Breaking TADs: How Alterations of Chromatin Domains Result in Disease.

Trends Genet 2016 Apr 7;32(4):225-237. Epub 2016 Feb 7.

Max Planck Institute for Molecular Genetics, RG Development and Disease, 14195 Berlin, Germany; 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. Electronic address:

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http://www.cell.com/trends/genetics/pdf/S0168-9525(16)00004-
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http://linkinghub.elsevier.com/retrieve/pii/S016895251600004
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http://dx.doi.org/10.1016/j.tig.2016.01.003DOI Listing
April 2016

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Am J Med Genet A 2016 May 29;170A(5):1202-7. Epub 2016 Jan 29.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37560DOI Listing
May 2016

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

Am J Med Genet A 2016 Mar 18;170(3):615-21. Epub 2015 Nov 18.

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

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http://dx.doi.org/10.1002/ajmg.a.37464DOI Listing
March 2016

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

High resolution 3D laboratory x-ray tomography data of femora from young, 1-14 day old C57BL/6 mice.

Data Brief 2015 Sep 20;4:32-3. Epub 2015 Apr 20.

Julius Wolff Institute, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S23523409150004
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http://dx.doi.org/10.1016/j.dib.2015.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510367PMC
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

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

J Med Genet 2015 Jul 1;52(7):476-83. Epub 2015 Jun 1.

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.

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http://dx.doi.org/10.1136/jmedgenet-2015-103108DOI Listing
July 2015

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

J Invest Dermatol 2015 Oct 22;135(10):2368-2376. Epub 2015 May 22.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitaetsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.192DOI Listing
October 2015

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

J Hum Genet 2015 Aug 21;60(8):419-25. Epub 2015 May 21.

Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/jhg.2015.48DOI Listing
August 2015

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.

Hum Mutat 2015 Aug 11;36(8):815-22. Epub 2015 Jun 11.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.

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http://dx.doi.org/10.1002/humu.22813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755152PMC
August 2015

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany; 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. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

Long bone maturation is driven by pore closing: A quantitative tomography investigation of structural formation in young C57BL/6 mice.

Acta Biomater 2015 Aug 28;22:92-102. Epub 2015 Mar 28.

Julius Wolff Institute, Charité - Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17427061150013
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http://dx.doi.org/10.1016/j.actbio.2015.03.027DOI Listing
August 2015

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

PLoS One 2015 16;10(3):e0119030. Epub 2015 Mar 16.

Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119030PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361563PMC
January 2016

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

Bone 2015 Apr 24;73:111-9. Epub 2014 Dec 24.

Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282140046
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http://dx.doi.org/10.1016/j.bone.2014.12.017DOI Listing
April 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of 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. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

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

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

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

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

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

J Mol Biol 2014 Sep 1;426(19):3221-3231. Epub 2014 Aug 1.

Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Brandenburg School for Regenerative Therapies, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00222836140039
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http://dx.doi.org/10.1016/j.jmb.2014.07.029DOI Listing
September 2014

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models.

Bone 2014 Sep 17;66:155-62. Epub 2014 Jun 17.

Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany; FG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.06.012DOI Listing
September 2014

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Mol Genet Metab 2014 Aug 21;112(4):310-6. Epub 2014 May 21.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.003DOI Listing
August 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

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Am J Med Genet A 2014 Apr 29;164A(4):898-906. Epub 2014 Jan 29.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

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http://doi.wiley.com/10.1002/ajmg.a.36367
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http://dx.doi.org/10.1002/ajmg.a.36367DOI 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