Search Results - "KRAWITZ, Peter M"

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes by KAMPHANS, Tom, KRAWITZ, Peter M

“…Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are…”
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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies by Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.

“…The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and is present on every cell type. Many of these proteins play…”
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Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes by Witzel, Maximilian, Petersheim, Daniel, Fan, Yanxin, Bahrami, Ehsan, Racek, Tomas, Rohlfs, Meino, Puchałka, Jacek, Mertes, Christian, Gagneur, Julien, Ziegenhain, Christoph, Enard, Wolfgang, Stray-Pedersen, Asbjørg, Arkwright, Peter D, Abboud, Miguel R, Pazhakh, Vahid, Lieschke, Graham J, Krawitz, Peter M, Dahlhoff, Maik, Schneider, Marlon R, Wolf, Eckhard, Horny, Hans-Peter, Schmidt, Heinrich, Schäffer, Alejandro A, Klein, Christoph

“…Christoph Klein and colleagues identify loss-of-function mutations in SMARCD2 ( BAF60b ) that lead to neutropenia, specific granule deficiency and…”
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PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome by Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise

“…Recently, mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor have been identified in a new subclass of congenital…”
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Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation by Krawitz, Peter M., Murakami, Yoshiko, Hecht, Jochen, Krüger, Ulrike, Holder, Susan E., Mortier, Geert R., Delle Chiaie, Barbara, De Baere, Elfride, Thompson, Miles D., Roscioli, Tony, Kielbasa, Szymon, Kinoshita, Taroh, Mundlos, Stefan, Robinson, Peter N., Horn, Denise

“…Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism,…”
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Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism by Pantel, Jean T., Zhao, Max, Mensah, Martin A., Hajjir, Nurulhuda, Hsieh, Tzung-Chien, Hanani, Yair, Fleischer, Nicole, Kamphans, Tom, Mundlos, Stefan, Gurovich, Yaron, Krawitz, Peter M.

“…Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted…”
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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation by Howard, Malcolm F., Murakami, Yoshiko, Pagnamenta, Alistair T., Daumer-Haas, Cornelia, Fischer, Björn, Hecht, Jochen, Keays, David A., Knight, Samantha J.L., Kölsch, Uwe, Krüger, Ulrike, Leiz, Steffen, Maeda, Yusuke, Mitchell, Daphne, Mundlos, Stefan, Phillips, John A., Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.

“…Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the…”
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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding by Abdelrazek, Ibrahim M., Knaus, Alexej, Javanmardi, Behnam, Krawitz, Peter M., Horn, Denise, Abdalla, Ebtesam M., Kumar, Sheetal

“…ABSTRACT Background Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are…”
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A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT by Krawitz, Peter M., Höchsmann, Britta, Murakami, Yoshiko, Teubner, Britta, Krüger, Ulrike, Klopocki, Eva, Neitzel, Heidemarie, Hoellein, Alexander, Schneider, Christina, Parkhomchuk, Dmitri, Hecht, Jochen, Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Schrezenmeier, Hubert

“…To ascertain the genetic basis of a paroxysmal nocturnal hemoglobinuria (PNH) case without somatic mutations in PIGA, we performed deep next-generation…”
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AI-based multi-PRS models outperform classical single-PRS models by Klau, Jan Henric, Maj, Carlo, Klinkhammer, Hannah, Krawitz, Peter M, Mayr, Andreas, Hillmer, Axel M, Schumacher, Johannes, Heider, Dominik

“…Polygenic risk scores (PRS) calculate the risk for a specific disease based on the weighted sum of associated alleles from different genetic loci in the…”
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A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions by de los Santos, Miguel Rodríguez, Rivalan, Marion, David, Friederike S., Stumpf, Alexander, Pitsch, Julika, Tsortouktzidis, Despina, Velasquez, Laura Moreno, Voigt, Anne, Schilling, Karl, Mattei, Daniele, Long, Melissa, Vogt, Guido, Knaus, Alexej, Fischer-Zirnsak, Björn, Wittler, Lars, Timmermann, Bernd, Robinson, Peter N., Horn, Denise, Mundlos, Stefan, Kornak, Uwe, Becker, Albert J., Schmitz, Dietmar, Winter, York, Krawitz, Peter M.

“…Pathogenic germline mutations in PIGV lead to glycosylphosphatidylinositol biosynthesis deficiency (GPIBD). Individuals with pathogenic biallelic mutations in…”
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TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 by Schmidt, Axel, Peters, Sophia, Knaus, Alexej, Sabir, Hemmen, Hamsen, Frauke, Maj, Carlo, Fazaal, Julia, Sivalingam, Sugirthan, Savchenko, Oleksandr, Mantri, Aakash, Holzinger, Dirk, Neudorf, Ulrich, Müller, Andreas, Ludwig, Kerstin U., Krawitz, Peter M., Engels, Hartmut, Nöthen, Markus M., Bagci, Soyhan

“…Among children, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections are typically mild. Here, we describe the case of a 3.5-year-old girl…”
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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome by Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan

“…Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We…”
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Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees by Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N, Parkhomchuk, Dmitri, Krawitz, Peter M

“…The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare…”
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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder by Thompson, Miles D., Knaus, Alexej A., Barshop, Bruce A., Caliebe, Almuth, Muhle, Hiltrud, Nguyen, Thi Tuyet Mai, Baratang, Nissan V., Kinoshita, Taroh, Percy, Maire E., Campeau, Philippe M., Murakami, Yoshiko, Cole, David E., Krawitz, Peter M., Mabry, C. Charlton

“…We report that recessive inheritance of a post-GPI attachment to proteins 2 (PGAP2) gene variant results in the hyperphosphatasia with neurologic deficit…”
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Künstliche Intelligenz bei der Diagnose Seltener Erkrankungen: die Entwicklung der Phänotyp-Analyse by Krawitz, Peter M.

“…Zusammenfassung Durch die Analyse des Erscheinungsbildes (Phänotyp) von Patient:innen kann die Diagnostik von Seltenen Erkrankungen unterstützt werden, da bei…”
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The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process by Heinrich, Verena, Stange, Jens, Dickhaus, Thorsten, Imkeller, Peter, Krüger, Ulrike, Bauer, Sebastian, Mundlos, Stefan, Robinson, Peter N, Hecht, Jochen, Krawitz, Peter M

“…With the availability of next-generation sequencing (NGS) technology, it is expected that sequence variants may be called on a genomic scale. Here, we…”
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Identifying facial phenotypes of genetic disorders using deep learning by Gurovich, Yaron, Hanani, Yair, Bar, Omri, Nadav, Guy, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter M., Kamphausen, Susanne B., Zenker, Martin, Bird, Lynne M., Gripp, Karen W.

“…Syndromic genetic conditions, in aggregate, affect 8% of the population 1 . Many syndromes have recognizable facial features 2 that are highly informative to…”
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Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations by Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.

“…Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of…”
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Genetic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss Functions by Klinkhammer, Hannah, Staerk, Christian, Maj, Carlo, Krawitz, Peter M, Mayr, Andreas

“…Polygenic risk scores (PRS) aim to predict a trait from genetic information, relying on common genetic variants with low to medium effect sizes. As genotype…”
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