Publications by authors named "Malte Spielmann"

52Publications

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

[Prenatal Diagnostics and Postnatal Complications in a Case of Extremely Rare Tetra-Amelia].

Z Geburtshilfe Neonatol 2020 Sep 29. Epub 2020 Sep 29.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Klinik für Geburtsmedizin, Berlin, Germany.

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http://dx.doi.org/10.1055/a-1250-8957DOI Listing
September 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

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

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurol Genet 2019 Feb 24;5(1):e305. Epub 2019 Jan 24.

Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018PMC
February 2019

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.

Am J Med Genet A 2019 04 25;179(4):663-667. Epub 2019 Feb 25.

Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.61071
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http://dx.doi.org/10.1002/ajmg.a.61071DOI Listing
April 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

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

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

CRISPR/Cas9 Genome Editing in Embryonic Stem Cells.

Methods Mol Biol 2017 ;1468:221-34

Development and Disease Group, Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, Berlin, 14195, Germany.

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http://dx.doi.org/10.1007/978-1-4939-4035-6_15DOI Listing
January 2018

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 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

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

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

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

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

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

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.

Am J Med Genet A 2014 Feb 5;164A(2):490-4. Epub 2013 Dec 5.

Department of Medical Genetics, Faculty of Medicine, İstanbul Medeniyet University, İstanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36278DOI Listing
February 2014

Structural variations, the regulatory landscape of the genome and their alteration in human disease.

Bioessays 2013 Jun 29;35(6):533-43. Epub 2013 Apr 29.

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

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http://dx.doi.org/10.1002/bies.201200178DOI Listing
June 2013

CNVs of noncoding cis-regulatory elements in human disease.

Curr Opin Genet Dev 2013 Jun 16;23(3):249-56. Epub 2013 Apr 16.

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

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http://dx.doi.org/10.1016/j.gde.2013.02.013DOI Listing
June 2013

Minced urothelium to create epithelialized subcutaneous conduits.

J Urol 2010 Aug 19;184(2):757-61. Epub 2010 Jun 19.

Laboratory of Wound Healing and Gene Transfer, Division of Plastic Surgery, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00225347100339
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http://dx.doi.org/10.1016/j.juro.2010.04.031DOI Listing
August 2010

Minced skin for tissue engineering of epithelialized subcutaneous tunnels.

Tissue Eng Part A 2009 Aug;15(8):2085-92

Division of Pediatric Urology, Astrid Lindgren Children's Hospital, Karolinska University Hospital , Stockholm, Sweden.

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http://dx.doi.org/10.1089/ten.tea.2008.0149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811055PMC
August 2009

Human beta-defensin-3 promotes wound healing in infected diabetic wounds.

J Gene Med 2009 Mar;11(3):220-8

Division of Plastic Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/jgm.1287DOI Listing
March 2009

Insulin-like growth factor-1 gene therapy and cell transplantation in diabetic wounds.

J Gene Med 2008 Nov;10(11):1247-52

Division of Plastic Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/jgm.1251DOI Listing
November 2008

Gene therapy in cutaneous wound healing.

Front Biosci 2007 Jan 1;12:2507-18. Epub 2007 Jan 1.

Division of Plastic Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.2741/2251DOI Listing
January 2007

Cd2+-induced swelling-contraction dynamics in isolated kidney cortex mitochondria: role of Ca2+ uniporter, K+ cycling, and protonmotive force.

Am J Physiol Cell Physiol 2005 Sep 20;289(3):C656-64. Epub 2005 Apr 20.

Dept. of Physiology and Pathophysiology, Faculty of Medicine, University of Witten/Herdecke, D-58448 Witten, Germany.

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http://dx.doi.org/10.1152/ajpcell.00049.2005DOI Listing
September 2005