HomozygosityMapper—an interactive approach to homozygosity mapping

por Seelow, Dominik, Schuelke, Markus, Hildebrandt, Friedhelm, Nürnberg, Peter
Publicado 2009

Next Generation Sequencing of miRNAs – Strategies, Resources and Methods

por Motameny, Susanne, Wolters, Stefanie, Nürnberg, Peter, Schumacher, Björn
Publicado 2010

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

por Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Publicado 2019

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly

por Asif, Maria, Abdullah, Uzma, Nürnberg, Peter, Tinschert, Sigrid, Hussain, Muhammad Sajid
Publicado 2023

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

por Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin
Publicado 2018

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

por Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.
Publicado 2017

Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span

por Hämmerer, Dorothea, Biele, Gudio, Müller, Viktor, Thiele, Holger, Nürnberg, Peter, Heekeren, Hauke R., Li, Shu-Chen
Publicado 2013

Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

por Breitenkamp, Alexandra F. S., Matthes, Jan, Nass, Robert Daniel, Sinzig, Judith, Lehmkuhl, Gerd, Nürnberg, Peter, Herzig, Stefan
Publicado 2014

A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy

por Cirak, Sebahattin, Wang, Haicui, Heredia, Raul, Muntoni, Francesco, Hathout, Yetrib, Herkenrath, Peter, Dötsch, Jörg, Nürnberg, Peter
Publicado 2015

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders

por Rosewich, Hendrik, Thiele, Holger, Ohlenbusch, Andreas, Maschke, Ulrike, Frommolt, Peter, Nürnberg, Peter, Brockmann, Knut, Gärtner, Jutta
Publicado 2014

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

por Hatzold, Julia, Beleggia, Filippo, Herzig, Hannah, Altmüller, Janine, Nürnberg, Peter, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias
Publicado 2016

Genes from Chagas Susceptibility Loci That Are Differentially Expressed in T. cruzi-Resistant Mice Are Candidates Accounting for Impaired Immunity

por Graefe, Sebastian E. B., Streichert, Thomas, Budde, Birgit S., Nürnberg, Peter, Steeg, Christiane, Müller-Myhsok, Bertram, Fleischer, Bernhard
Publicado 2006

Sensitive Detection of Viral Transcripts in Human Tumor Transcriptomes

por Schelhorn, Sven-Eric, Fischer, Matthias, Tolosi, Laura, Altmüller, Janine, Nürnberg, Peter, Pfister, Herbert, Lengauer, Thomas, Berthold, Frank
Publicado 2013

A large deletion in RPGR causes XLPRA in Weimaraner dogs

por Kropatsch, Regina, Akkad, Denis A., Frank, Matthias, Rosenhagen, Carsten, Altmüller, Janine, Nürnberg, Peter, Epplen, Jörg T., Dekomien, Gabriele
Publicado 2016

Efficacy assessment of SNP sets for genome-wide disease association studies

por Wollstein, Andreas, Herrmann, Alexander, Wittig, Michael, Nothnagel, Michael, Franke, Andre, Nürnberg, Peter, Schreiber, Stefan, Krawczak, Michael, Hampe, Jochen
Publicado 2007

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

por Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
Publicado 2016

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

por Moosa, Shahida, Altmüller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nürnberg, Peter, Yigit, Gökhan, Vogel, Ida, Wollnik, Bernd
Publicado 2017

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

por Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang
Publicado 2014

Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history

por Lao, Oscar, Altena, Eveline, Becker, Christian, Brauer, Silke, Kraaijenbrink, Thirsa, van Oven, Mannis, Nürnberg, Peter, de Knijff, Peter, Kayser, Manfred
Publicado 2013

Duplications at 19q13.33 in patients with neurodevelopmental disorders

por Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Publicado 2018