CUSHAW3: Sensitive and Accurate Base-Space and Color-Space Short-Read Alignment with Hybrid Seeding

por Liu, Yongchao, Popp, Bernt, Schmidt, Bertil
Publicado 2014

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%

por Bartolomaeus, Tobias, Hentschel, Julia, Jamra, Rami Abou, Popp, Bernt
Publicado 2023

Detecting tandem repeat variants in coding regions using code-adVNTR

por Park, Jonghun, Bakhtiari, Mehrdad, Popp, Bernt, Wiesener, Michael, Bafna, Vineet
Publicado 2022

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

por de Fallois, Jonathan, Schönauer, Ria, Münch, Johannes, Nagel, Mato, Popp, Bernt, Halbritter, Jan
Publicado 2021

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

por Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R., Beblo, Skadi, Popp, Bernt
Publicado 2021

Exome Pool-Seq in neurodevelopmental disorders

por Popp, Bernt, Ekici, Arif B., Thiel, Christian T., Hoyer, Juliane, Wiesener, Antje, Kraus, Cornelia, Reis, André, Zweier, Christiane
Publicado 2017

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders

por Halfmeyer, Insa, Bartolomaeus, Tobias, Popp, Bernt, Radtke, Maximilian, Helms, Tobias, Hentschel, Julia, Popp, Denny, Jamra, Rami Abou
Publicado 2022

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

por Popp, Bernt, Agaimy, Abbas, Kraus, Cornelia, Knaup, Karl X., Ekici, Arif B., Uebe, Steffen, Reis, André, Wiesener, Michael, Zweier, Christiane
Publicado 2019

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

por Popp, Bernt, Erber, Ramona, Kraus, Cornelia, Vasileiou, Georgia, Hoyer, Juliane, Burghaus, Stefanie, Hartmann, Arndt, Beckmann, Matthias W., Reis, André, Agaimy, Abbas
Publicado 2020

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

por Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
Publicado 2015

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

por Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt
Publicado 2019

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

por Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan
Publicado 2020

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

por Freunscht, Inga, Popp, Bernt, Blank, Rainer, Endele, Sabine, Moog, Ute, Petri, Holger, Prott, Eva-Christina, Reis, Andre, Rübo, Jochen, Zabel, Bernhard, Zenker, Martin, Hebebrand, Johannes, Wieczorek, Dagmar
Publicado 2013

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

por Popp, Bernt, Ekici, Arif B., Knaup, Karl X., Schneider, Karen, Uebe, Steffen, Park, Jonghun, Bafna, Vineet, Meiselbach, Heike, Eckardt, Kai-Uwe, Schiffer, Mario, Reis, André, Kraus, Cornelia, Wiesener, Michael
Publicado 2022

Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies

por Velluva, Akhil, Radtke, Maximillian, Horn, Susanne, Popp, Bernt, Platzer, Konrad, Gjermeni, Erind, Lin, Chen-Ching, Lemke, Johannes R., Garten, Antje, Schöneberg, Torsten, Blüher, Matthias, Abou Jamra, Rami, Le Duc, Diana
Publicado 2021

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

por Popp, Bernt, Bienvenu, Thierry, Giurgea, Irina, Metreau, Julia, Kraus, Cornelia, Reis, André, Fischer, Jan, Bralo, María Palomares, Tenorio‐Castaño, Jair, Lapunzina, Pablo, Almoguera, Berta, Lopez‐Grondona, Fermina, Sticht, Heinrich, Zweier, Christiane
Publicado 2022

Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation

por Lehmann, Claudia, Pehnke, Sarah, Weimann, Antje, Bachmann, Anette, Dittrich, Katalin, Petzold, Friederike, Fürst, Daniel, de Fallois, Jonathan, Landgraf, Ramona, Henschler, Reinhard, Lindner, Tom H., Halbritter, Jan, Doxiadis, Ilias, Popp, Bernt, Münch, Johannes
Publicado 2023

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

por Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S., Gießl, Andreas, Helmut Brandstätter, Johann, Popp, Bernt, Klinger, Patricia, Ekici, Arif B., Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T.
Publicado 2015

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

por Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko
Publicado 2023

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

por Popp, Bernt, Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias, Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B., Asadollahi, Reza, Regensburger, Martin, Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate, Reis, André
Publicado 2018