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Author Details

Luitgard Graul-Neumann
Charite Universitaetsmedizin Berlin
1996
106
36
PMIDPaper TitleJournal TitlePublished Year
34913263A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.Am J Med Genet A2022
34013494More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.Neurogenetics2021
34159400Genome sequencing in families with congenital limb malformations.Hum Genet2021
31600839Skeletal abnormalities are common features in Aymé-Gripp syndrome.Clin Genet2020
32505691An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.Eur J Med Genet2020
32376980Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.Genet Med2020
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
30031153Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.Eur J Med Genet2019
29155047Novel mosaic variants in two patients with Cornelia de Lange syndrome.Eur J Med Genet2018
29407414Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.Eur J Med Genet2018
28611549Mutation c.943G&gt;T (p.Ala315Ser) in <i>FGFR2</i> Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.Mol Syndromol2017
28371085DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.Am J Med Genet A2017
29100093De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Am J Hum Genet2017
28807049Oral 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 Rep2017
28770003Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.Mol Cytogenet2017
25652421Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.Clin Genet2016
26860060Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.Eur J Hum Genet2016
27048506Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.BMC Med Genet2016
26005867Transcriptional regulator PRDM12 is essential for human pain perception.Nat Genet2015
2647127147 patients with FLNA associated periventricular nodular heterotopia.Orphanet J Rare Dis2015
26220135Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.Nat Genet2015
25963545Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.Circ Cardiovasc Genet2015
24129431Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.Eur J Hum Genet2014
25606391Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.Meta Gene2014
25186178Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.Sci Transl Med2014
25099957Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.Am J Med Genet C Semin Med Genet2014
24752985Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome.J Clin Ultrasound2014
23042644A novel RAB33B mutation in Smith-McCort dysplasia.Hum Mutat2013
24092917A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.J Med Genet2013
24140640Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.Eur J Med Genet2013
23456818Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.J Med Genet2013
23425300Novel mutations of the PRKAR1A gene in patients with acrodysostosis.Clin Genet2013
23512835Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.BMJ Open2013
23239641Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.Am J Med Genet A2013
23284067Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Neurology2013
22245432The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.J Craniomaxillofac Surg2012
22544365Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.Nat Genet2012
22643382Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.Clin Dysmorphol2012
21216154Necrotizing 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 Surg2011
22190900Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.Mol Syndromol2011
21857152Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.Cell Cycle2011
21965147New mutations in the ATM gene and clinical data of 25 AT patients.Neurogenetics2011
21333765Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.Eur J Med Genet2011
21146417Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report.J Craniomaxillofac Surg2011
21190981Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.J Clin Endocrinol Metab2011
19844253Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.Eur J Hum Genet2010
20979188Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.Am J Med Genet A2010
20583119Digital necroses and vascular thrombosis in severe spinal muscular atrophy.Muscle Nerve2010
18767143The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Hum Mutat2009
19916152[Family screening in patients with retinal angiomatosis].Klin Monbl Augenheilkd2009
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Collaborators

Max Planck Institute for Molecular Genetics
Co-authored papers 13
Institute for Human Genetics, University of Wurzburg
Co-authored papers 12
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 11
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 10
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Co-authored papers 5
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Max Planck Institute for Molecular Genetics FG Development and Disease
Co-authored papers 4
The Barcelona Institute of Science and Technology
Co-authored papers 3
Institute of Human Genetics, University Medical Center Gottingen
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Berlin Institute of Health at Charite - Universitatsmedizin Berlin
Co-authored papers 3
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Co-authored papers 3
Max Planck Institute for Molecular Genetics
Co-authored papers 3
University Hospital Essen
Co-authored papers 2
Berlin Institute of Health (BIH)
Co-authored papers 2
University of Pavia
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University of Colorado Anschutz Medical Campus
Co-authored papers 2
university of california los angeles
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Medical University of Vienna
Co-authored papers 2
University of Duisburg-Essen
Co-authored papers 2
Institute of Human Development, University of Manchester
Co-authored papers 2
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
Co-authored papers 2
Charite-Universitatsmedizin Berlin
Co-authored papers 2
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Berlin Institute of Health
Co-authored papers 2
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Charite Universitatsmedizin Berlin
Co-authored papers 2
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university of california los angeles Medical School
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