Publications by authors named "Luitgard Graul-Neumann"

50Publications

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Eur J Med Genet 2020 Sep 4;63(9):103973. Epub 2020 Jun 4.

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

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September 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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July 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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December 2019

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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July 2018

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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November 2018

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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November 2017

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

J Med Case Rep 2017 Aug 15;11(1):233. Epub 2017 Aug 15.

Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aßmannshauser Str. 4-6, 14197, Berlin, Germany.

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August 2017

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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August 2016

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Meta Gene 2014 Dec 11;2:72-82. Epub 2014 Jan 11.

Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; SPZ Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; Institute of Neuroanatomy and Cell Biology, Charité-Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10115 Berlin, Germany.

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December 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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September 2014

Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome.

J Clin Ultrasound 2014 Nov-Dec;42(9):569-73. Epub 2014 Apr 18.

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

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June 2015

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Eur J Med Genet 2013 Dec 17;56(12):669-73. Epub 2013 Oct 17.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany. Electronic address:

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December 2013

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Eur J Hum Genet 2014 Jun 16;22(6):726-33. Epub 2013 Oct 16.

1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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June 2014

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

Am J Med Genet A 2013 Jan 14;161A(1):218-24. Epub 2012 Dec 14.

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

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January 2013

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Clin Dysmorphol 2012 Oct;21(4):183-90

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.

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October 2012

The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.

J Craniomaxillofac Surg 2012 Dec 13;40(8):668-74. Epub 2012 Jan 13.

Department of Oral and Maxillofacial Surgery, Clinical Navigation, University Hospital Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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December 2012

Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report.

J Craniomaxillofac Surg 2011 Dec 8;39(8):554-61. Epub 2011 Jan 8.

Dept. of Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, University Hospital Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany.

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December 2011

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

J Clin Endocrinol Metab 2011 Mar 29;96(3):E453-62. Epub 2010 Dec 29.

Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom.

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March 2011

Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report.

J Craniomaxillofac Surg 2011 Oct 10;39(7):487-95. Epub 2010 Dec 10.

Department of Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, Universitätsmedizin Berlin Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin, Germany.

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October 2011

Digital necroses and vascular thrombosis in severe spinal muscular atrophy.

Muscle Nerve 2010 Jul;42(1):144-7

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany.

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July 2010

Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome).

Am J Med Genet A 2009 Feb;149A(4):746-50

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

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February 2009

Czech dysplasia: report of a large family and further delineation of the phenotype.

Am J Med Genet A 2008 Jul;146A(14):1859-64

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

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July 2008

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Am J Med Genet A 2008 Apr;146A(8):977-83

Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Berlin, Germany.

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April 2008

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Eur J Pediatr 2008 Aug 12;167(8):903-8. Epub 2007 Oct 12.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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August 2008