André Reis

发表

Fernando Boavida, Jorge Sá Silva, Hugo Aguiar, 2016, I4CS.

Evaluation of XIS-Reverse, a Model-Driven Reverse Engineering Approach for Legacy Information Systems

Alberto Rodrigues da Silva, André Reis, 2017, MODELSWARD.

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

Arif B. Ekici, Denny Schanze, André Reis, 2010, BMC Bioinformatics.

Tech4SocialChange: Crowd-sourcing to bring migrants' experiences to the academics: Humanitarian challenges and opportunities, connectivity & communication

Fernando Boavida, Jorge Sá Silva, Hugo Aguiar, 2016, 2016 IEEE Global Humanitarian Technology Conference (GHTC).

WeDoCare: A humanitarian people-centric cyber-physical system for the benefit of refugees

Fernando Boavida, Jorge Sá Silva, Hugo Aguiar, 2016, 2016 IEEE Global Humanitarian Technology Conference (GHTC).

XIS-Reverse: A Model-driven Reverse Engineering Approach for Legacy Information Systems

Alberto Rodrigues da Silva, André Reis, 2017, MODELSWARD.

De novo mutations in the genome organizer CTCF cause intellectual disability.

Heinrich Sticht, Georgia Vasileiou, Juliane Hoyer, 2013, American journal of human genetics.

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Matti Pirinen, Christian Gieger, Peter Donnelly, 2012 .

Rare Copy Number Variants Are a Common Cause of Short Stature

Dagmar Wieczorek, Juliane Hoyer, Arif B. Ekici, 2013, PLoS genetics.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Hussain Jafri, Karl Sperling, André Reis, 2004, American journal of human genetics.

TALPID 3 controls centrosome and cell polarity and the human ortholog KIAA 0586 is 1 mutated in Joubert syndrome ( JBTS 23 ) 2 3

Peter Nürnberg, Arif B Ekici, André Reis, 2015 .

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Peter Nürnberg, Arif B Ekici, André Reis, 2015, eLife.

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

Christian Gieger, Arif B. Ekici, Ross McManus, 2010, Nature Genetics.

Common genetic variants associated with open-angle glaucoma.

Christian Y Mardin, Kari Stefansson, Fernando Rivadeneira, 2011, Human molecular genetics.

Psoriasis is associated with increased beta-defensin genomic copy number.

André Reis, Edward J Hollox, Martin den Heijer, 2008, Nature genetics.

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2

Georgia Vasileiou, Juliane Hoyer, Marius Wunderle, 2017, International journal of cancer.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Psoriasis is associated with increased β-defensin genomic copy number

André Reis, Edward J Hollox, M. Heijer, 2008, Nature Genetics.

The German Chronic Kidney Disease (GCKD) study: design and methods.

Hans-Ulrich Prokosch, Olaf Gefeller, Florian Kronenberg, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors.

Xavier Estivill, André Reis, Tim Becker, 2010, The Journal of investigative dermatology.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Annette Schenck, Arif B Ekici, André Reis, 2009, American journal of human genetics.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

Rafael de Cid, Pui-Yan Kwok, Xavier Estivill, 2011, The Journal of investigative dermatology.

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization

André Reis, Steffen Uebe, Frank Behrens, 2012, Arthritis Research & Therapy.

V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice

Helmut Fuchs, André Reis, Eckhard Wolf, 2002, Mammalian Genome.

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

Matti Pirinen, Peter Donnelly, Robert Plomin, 2010, Nature Genetics.

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Karl Sperling, André Reis, E. Schröck, 1994, Nature Genetics.

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14–q21 by homozygosity mapping

Irene M. Leigh, Howard P. Stevens, André Reis, 1997, Human Genetics.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy

Fred H. Gage, Tobias Bäuerle, Arif B. Ekici, 2016, Acta Neuropathologica.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

Georgia Vasileiou, Juliane Hoyer, Marius Wunderle, 2018, BMC Cancer.

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Christian Y Mardin, Peter Nürnberg, Arif B Ekici, 2011, European Journal of Human Genetics.

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Matthias Platzer, Karl Sperling, André Reis, 1998, Cell.