P. Robinson

发表

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

P. Robinson, S. Köhler, Sebastian Bauer, 2008, American journal of human genetics.

Walking the interactome for prioritization of candidate disease genes.

P. Robinson, S. Köhler, Sebastian Bauer, 2008, American journal of human genetics.

TCR Repertoire Analysis by Next Generation Sequencing Allows Complex Differential Diagnosis of T Cell–Related Pathology

P. Robinson, S. Mundlos, C. Rödelsperger, 2013, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

P. Robinson, Hannah Blau, P. Krawitz, 2020, Orphanet Journal of Rare Diseases.

Deep phenotyping for precision medicine

Peter N. Robinson, P. Robinson, P. Robinson, 2012, Human mutation.

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

P. Robinson, P. Nürnberg, S. Tinschert, 1995, Human Genetics.

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF

P. Robinson, S. Mundlos, S. Haas, 2016, bioRxiv.

Bioinformatics for Human Genetics: Promises and Challenges

P. Robinson, P. Robinson, A. Lindblom, 2011, Human mutation.

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

A. Pagnamenta, P. Robinson, D. Horn, 2014, American journal of human genetics.

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013, Blood.

Key Point : A carrier of a deleterious splice site mutation in PIGT acquired a second hit in PIGT and developed PNH

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013 .

PIGT mutation and a somatic mutation in A case of paroxysmal nocturnal hemoglobinuria caused by a germline

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013 .

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Sebastian Bauer, Sebastian Köhler, Christian Rödelsperger, 2010, Nature Genetics.

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Gabor Matyas, Christophe Béroud, Claudine Junien, 2003, Human mutation.

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

P. Robinson, Peter N Robinson, 2010, Genome Biology.

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

Tom Kamphans, Thorsten Dickhaus, Verena Heinrich, 2013, Genome Medicine.

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

Damian Smedley, Yves Moreau, Melissa Haendel, 2014, Science Translational Medicine.

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

Michael A. Gargano, Guy Karlebach, P. Robinson, 2019, Genes.

Microindel detection in short-read sequence data

Sebastian Bauer, Christian Rödelsperger, Peter M. Krawitz, 2010, Bioinform..

A Systematic Approach to Marfan Syndrome and Hereditary Forms of Aortic Dilatation and Dissection

P. Robinson, Y. Kodolitsch, 2010 .

Diagnosis and management of Marfan syndrome.

P. Robinson, C. Detter, Y. von Kodolitsch, 2008, Future cardiology.

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

P. Robinson, S. Mundlos, D. Parkhomchuk, 2014, Molecular genetics & genomic medicine.

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8

P. Robinson, D. Horn, P. Nürnberg, 1996, Electrophoresis.

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

P. Robinson, S. Mundlos, C. Mischung, 2009, PLoS genetics.

Tissue Doppler imaging identifies myocardial dysfunction in adults with marfan syndrome

P. Robinson, M. A. Aydin, T. Meinertz, 2007, Clinical Cardiology.

Induction of Macrophage Chemotaxis by Aortic Extracts from Patients with Marfan Syndrome Is Related to Elastin Binding Protein

P. Robinson, R. Hetzer, S. Doelken, 2011, PloS one.

Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment

P. Robinson, S. Mundlos, M. Halushka, 2006, Circulation.

Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies

P. Robinson, T. Rosenberg, L. Neumann, 2002, Human mutation.

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

P. Robinson, E. Arbustini, U. Francke, 2009, Pediatrics.

Neurofibromin (Nf1) is required for skeletal muscle development.

P. Robinson, S. Mundlos, C. Rödelsperger, 2011, Human molecular genetics.

Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51)

P. Robinson, M. Jäger, V. Vanita, 2016, Clinical genetics.

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

P. Robinson, R. Fahsold, L. Graul-Neumann, 2010, American journal of medical genetics. Part A.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

P. Robinson, C. Detter, T. Meinertz, 2008, American journal of medical genetics. Part A.

E2F6 initiates stable epigenetic silencing of germline genes during embryonic development

P. Robinson, Michael Weber, J. Hecht, 2021, Nature Communications.

MiR‐497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling

P. Robinson, S. Mundlos, M. Jäger, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

P. Robinson, S. Mundlos, P. Krawitz, 2014, American journal of medical genetics. Part A.

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

P. Robinson, S. Blankenberg, T. Zeller, 2014, Clinical cardiology.

Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?

P. Robinson, H. Reichenspurner, T. Meinertz, 2010, VASA. Zeitschrift fur Gefasskrankheiten.

Congenital heart disease Cardiovascular manifestations in men and women carrying a FBN 1 mutation

P. Robinson, E. Arbustini, U. Francke, 2010 .

Molecular Diagnosis of the Marfan Syndrome

P. Robinson, 2001 .

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments

P. Robinson, T. Rosenberg, C. Hagemeier, 2000, Human Genetics.

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

P. Robinson, C. Hagemeier, P. Booms, 1997, Human Genetics.

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.

Marcel H. Schulz, P. Robinson, Sebastian Bauer, 2008, The international journal of biochemistry & cell biology.

Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

P. Robinson, C. Hagemeier, P. Booms, 1999, Clinical genetics.

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.

P. Robinson, C. Ott, M. Karck, 2013, Journal of vascular surgery.

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

P. Robinson, M. Hecker, M. Karck, 2017, Molecular therapy. Nucleic acids.

Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice

P. Robinson, C. Ott, B. Muñóz-García, 2013, AORTA.

Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice.

P. Robinson, C. Ott, P. Knaus, 2013, Human molecular genetics.

Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

P. Robinson, L. Graul-Neumann, E. Passarge, 2016, European Journal of Human Genetics.

Diagnosis and Treatment of Marfan Syndrome—A Summary

P. Robinson, A. Child, L. Neumann, 2004 .

New evidence for a mutation hotspot in exon 37 of the NF1 gene

P. Robinson, P. Nürnberg, S. Tinschert, 1997 .

European School of Genetic Medicine 3 rd Course in Next Generation Sequencing

P. Robinson, S. Mundlos, P. Krawitz, 2014 .

Temperature and Denaturing Gradient Gel Electrophoresis

P. Robinson, H. Peters, 2010 .

CHAPTER 8 Temperature and Denaturing Gradient Gel Electrophoresis

P. Robinson, H. Peters, 2009 .

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Sylvia Richardson, Augusto Rendon, Sjoert B. G. Jansen, 2015, Genome Medicine.

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

P. Robinson, E. Utine, Y. Alanay, 2012, The Turkish journal of pediatrics.

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

P. Robinson, A. Verloes, U. Kornak, 2014, European journal of medical genetics.

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

P. Robinson, D. Horn, 2011, American journal of medical genetics. Part A.

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

P. Robinson, Sebastian Bauer, S. Mundlos, 2006, BMC Genomics.

Genetics and population analysis A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

P. Robinson, S. Mundlos, P. Krawitz, 2016 .

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.

C. Dieterich, P. Robinson, S. Mundlos, 2007, Gene expression patterns : GEP.

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

P. Robinson, S. Mundlos, C. Ott, 2018, Bone.

Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change

P. Robinson, 2012, Orphanet Journal of Rare Diseases.

Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy

P. Robinson, M. Karck, Karsten Richter, 2016, PloS one.

Neuroﬁbromin (Nf1) is required for skeletal muscle development

T. Braun, P. Robinson, S. Mundlos, 2011 .

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis

P. Robinson, P. Nürnberg, P. Booms, 1998, Electrophoresis.

Recurrent 2‐bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

P. Robinson, R. Neumann, P. Nürnberg, 1996, Human mutation.

Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease.

P. Robinson, H. Hense, H. Schunkert, 2011, International journal of cardiology.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

P. Robinson, E. Arbustini, G. Jondeau, 2015, European Journal of Human Genetics.

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

P. Robinson, D. Horn, S. Mundlos, 2013, Genome research.

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

P. Robinson, S. Mundlos, M. Spielmann, 2014, European Journal of Human Genetics.

Jannovar: A Java Library for Exome Annotation

Damian Smedley, Sebastian Bauer, Marten Jäger, 2014, Human mutation.

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

P. Robinson, S. Mundlos, M. Spielmann, 2012, American journal of human genetics.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

P. Robinson, S. Mundlos, T. Żemojtel, 2016, Polish journal of pathology : official journal of the Polish Society of Pathologists.

MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3′ UTR and Coding-Sequence Binding Sites

Thomas Manke, Gao Guo, Marten Jäger, 2011, PloS one.

The molecular genetics of Marfan syndrome and related microfibrillopathies

P. Robinson, Peter N. Robinson, Maurice Godfrey, 2000, Journal of medical genetics.

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

A. Schäffer, A. Schambach, P. Robinson, 2013, The Journal of experimental medicine.

Augmentation index and the evolution of aortic disease in marfan-like syndromes.

P. Robinson, M. A. Aydin, T. Meinertz, 2010, American Journal of Hypertension.

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome*

P. Robinson, S. Mundlos, P. Krawitz, 2012, The Journal of Biological Chemistry.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Na Zhu, Peter M. Krawitz, Stefan Mundlos, 2013, American journal of human genetics.

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

P. Robinson, D. Horn, S. Mundlos, 2012, American journal of human genetics.

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

P. Robinson, H. Brunner, T. Roscioli, 2012, American journal of medical genetics. Part A.

Novel sequence variants in dysferlin‐deficient muscular dystrophy leading to mRNA decay and possible C2‐domain misfolding

P. Robinson, W. Kress, M. Ebeling, 2006, Human mutation.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

P. Robinson, S. Mundlos, E. Chouery, 2006, American journal of human genetics.

New evidence for a mutation hotspot in exon 37 of the NF1 gene.

P. Robinson, P. Nürnberg, S. Tinschert, 1997, Human Mutation.

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

P. Robinson, K. Devriendt, J. Vermeesch, 2014, PLoS genetics.

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Tom Kamphans, Na Zhu, Peter M. Krawitz, 2013, PloS one.

1-14-2019 GOPHER : Generator Of Probes for capture HiC Experiments at high Resolution

P. Robinson, S. Mundlos, Hannah Blau, 2019 .

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

P. Robinson, S. Mundlos, Hannah Blau, 2019, BMC Genomics.

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

Jana Marie Schwarz, P. Robinson, D. Seelow, 2016, BMC genomics.

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

P. Robinson, S. Mundlos, E. Wanker, 2004, Human molecular genetics.

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

Peter N. Robinson, Tobias Penzkofer, Marten Jäger, 2016, Nucleic Acids Res..

Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders

Sebastian Bauer, Peter N. Robinson, Abigail W. Bigham, 2011, Bioinform..

Recessive Inheritance of Population‐Specific Intronic LINE‐1 Insertion Causes a Rotor Syndrome Phenotype

Ting Wang, Tomasz Zemojtel, Yoshinao Kobayashi, 2015, Human mutation.

The Genomic Birthday Paradox: How Much Is Enough?

Orion J. Buske, P. Robinson, M. Brudno, 2015, Human mutation.

Somatic neuro fi bromatosis type 1 ( NF 1 ) inactivation events in cutaneous neuro fi bromas of a single NF 1 patient

P. Robinson, S. Mundlos, M. Spielmann, 2014 .

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

P. Robinson, G. Condorelli, G. Faggian, 2013, European Journal of Human Genetics.

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

P. Robinson, S. Mundlos, P. Krawitz, 2011, Cell cycle.

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.

P. Robinson, V. Vanita, J. Singh, 2012, Experimental eye research.

Ontologizer 2.0 - a multifunctional tool for GO term enrichment analysis and data exploration

Martin Vingron, Sebastian Bauer, Peter N. Robinson, 2008, Bioinform..

The digital revolution in phenotyping

Olivier Bodenreider, Michel Dumontier, Hongfang Liu, 2015, Briefings Bioinform..

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

P. Robinson, I. Gut, K. Zatloukal, 2014, Journal of General Internal Medicine.

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

P. Robinson, C. Ott, V. Vanita, 2014, Molecular and Cellular Biochemistry.

A novel mutation in the DNA‐binding domain of MAF at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family

P. Robinson, K. Sperling, V. Vanita, 2006, American journal of medical genetics. Part A.

A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

P. Robinson, S. Mundlos, H. Ropers, 2006, American Journal of Medical Genetics. Part A.

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

Matthias Truss, Peter Hansen, P. Robinson, 2015, Genome research.

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Sebastian Bauer, Thorsten Dickhaus, Peter M. Krawitz, 2011, Nucleic acids research.

When Should Surgery Be Performed in Marfan Syndrome and Other Connective Tissue Disorders to Protect Against Type A Dissection

P. Robinson, J. Berger, Y. Kodolitsch, 2014 .

The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome

P. Robinson, S. Blankenberg, J. Schmidtke, 2014, Orphanet Journal of Rare Diseases.

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

P. Robinson, S. Tinschert, L. Neumann, 2005, American journal of medical genetics. Part A.

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Flemming Skovby, Christian Hagemeier, P. Robinson, 2002, Human mutation.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

J. Ganesh, P. Robinson, S. Mundlos, 2015, American journal of human genetics.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

P. Robinson, T. Rosenberg, C. Nienaber, 2000, American journal of medical genetics.

The molecular genetics of Marfan syndrome and related disorders

P. Robinson, D. Milewicz, D. Judge, 2006, Journal of Medical Genetics.

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.

P. Robinson, C. Ott, P. Knaus, 2013, The international journal of biochemistry & cell biology.

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

P. Robinson, J. Hecht, Jonas Ibn-Salem, 2016, BMC Genomics.

A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.

P. Robinson, S. Mundlos, C. Gille, 2006, Journal of molecular and cellular cardiology.

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome

P. Robinson, S. Mundlos, F. Barthel, 2004, Human Genetics.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

P. Robinson, C. Detter, T. Meinertz, 2008, American journal of medical genetics. Part A.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Flemming Skovby, Christian Hagemeier, P. Robinson, 2001, European Journal of Human Genetics.

Human Genome and Diseases:¶The molecular pathogenesis of the Marfan syndrome

P. Robinson, P. Booms, 2001, Cellular and Molecular Life Sciences CMLS.

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

Peter N. Robinson, Knut Reinert, Jochen Hecht, 2015, Bioinform..

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

P. Robinson, K. Sperling, R. Varon, 2007, Molecular vision.

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity

P. Robinson, D. Horbelt, P. Knaus, 2010, Journal of Cell Science.

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.

Ulrike Böhme, Peter Nürnberg, Stefan Mundlos, 2004, Human molecular genetics.

Frequency of sleep apnea in adults with the Marfan syndrome.

P. Robinson, T. Meinertz, A. Bernhardt, 2010, The American journal of cardiology.

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

P. Robinson, D. Horn, S. Mundlos, 2015, European journal of medical genetics.

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

Georg N Duda, Marten Jäger, Stefan Mundlos, 2011, BMC Genomics.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis

A. Schäffer, P. Robinson, S. Mundlos, 2011 .

University of Groningen Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Fischer-Zirnsak,

J. Ganesh, P. Robinson, S. Mundlos, 2022 .

Calcium-dependent self-association of the C-type lectin domain of versican.

Gao Guo, P. Robinson, M. Mörgelin, 2006, The international journal of biochemistry & cell biology.

Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease.

P. Robinson, C. Detter, S. Willems, 2013, International journal of cardiology.

Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

P. Robinson, S. Blankenberg, C. Detter, 2013, PloS one.

Marfan syndrome: an update of genetics, medical and surgical management

P. Robinson, Peter N Robinson, Y. von Kodolitsch, 2007, Heart.

The Application of Clinical Genetics Dovepress Perspectives on the Revised Ghent Criteria for the Diagnosis of Marfan Syndrome

P. Robinson, S. Blankenberg, A. Bernhardt, 2022 .

FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.

P. Robinson, C. Detter, B. Hoffmann, 2013, International Journal of Cardiology.

An integrative systems approach identifies novel candidates in Marfan syndrome‐related pathophysiology

P. Robinson, M. Jäger, B. Timmermann, 2019, Journal of cellular and molecular medicine.

Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome.

P. Robinson, T. Meinertz, A. Bernhardt, 2010, The American journal of cardiology.

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

P. Robinson, C. Detter, S. Debus, 2015, AORTA.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

P. Robinson, D. Horn, D. Wieczorek, 2013, European Journal of Human Genetics.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.

Promiscuous and Depolarization‐Induced Immediate‐Early Response Genes Are Induced by Mechanical Strain of Osteoblasts

P. Robinson, Sebastian Bauer, S. Mundlos, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Augmentation index relates to progression of aortic disease in adults with Marfan syndrome.

Stephan Willems, Rodolfo Ventura, Olaf Franzen, 2009, American journal of hypertension.

Arterial mechanical properties after replacement or reconstruction of the aortic root

P. Robinson, M. A. Aydin, A. Bernhardt, 2012 .

Computational Exome and Genome Analysis

Rosario M. Piro, Marten Jäger, P. Robinson, 2017 .

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

P. Robinson, D. Horn, S. Mundlos, 2014, European Journal of Human Genetics.

Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome.

P. Robinson, T. Meinertz, A. Bernhardt, 2011, The American journal of cardiology.

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

T. Dickhaus, P. Robinson, D. Parkhomchuk, 2013 .