Kornak, Uwe

[["dc.bibliographiccitation.firstpage","508"],["dc.bibliographiccitation.journal","Indian Journal of Medical Research"],["dc.bibliographiccitation.lastpage","514"],["dc.bibliographiccitation.volume","131"],["dc.contributor.author","Phadke, Shubha"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Gupta, Neerja"],["dc.contributor.author","Ranganath, Prajnya"],["dc.contributor.author","Kabra, Madhulika"],["dc.contributor.author","Kornak, Uwe"],["dc.date.accessioned","2020-06-19T09:36:11Z"],["dc.date.available","2020-06-19T09:36:11Z"],["dc.date.issued","2010"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66533"],["dc.title","Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis"],["dc.type","journal_article"],["dc.type.internalPublication","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","325"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","328"],["dc.bibliographiccitation.volume","62"],["dc.contributor.author","Al-Bughaili, Mohammed"],["dc.contributor.author","Neuhann, Teresa M"],["dc.contributor.author","Flöttmann, Ricarda"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Spielmann, Malte"],["dc.contributor.author","Kornak, Uwe"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.date.accessioned","2020-06-23T14:53:14Z"],["dc.date.available","2020-06-23T14:53:14Z"],["dc.date.issued","2017-02"],["dc.description.abstract","Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. 1q24 deletions underlie a spectrum of disorders with intellectual disability and ear abnormalities as phenotypic hallmarks. Here we report on an individual from Azerbaijan originating from a non-consanguineous couple showing short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability. Sanger sequencing of GORAB revealed the seemingly homozygous missense mutation p.Ser175Phe. This mutation was detected in a heterozygous state in the clinically unaffected mother, but was absent in the healthy father. We performed copy-number investigations by high-resolution array-CGH and PCR approaches and found an ~6 Mb de novo deletion spanning 1q23.3-q24.2 in the affected boy. This novel combination of genetic defects very well explains the phenotype that goes beyond the usual presentation of gerodermia osteodysplastica. Our data provide new insight into the phenotypic spectrum of 1q23-q25 deletions and shows that the combination with another pathogenic allele can lead to more severe clinical manifestations."],["dc.identifier.doi","10.1038/jhg.2016.111"],["dc.identifier.pmid","27604556"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66682"],["dc.language.iso","en"],["dc.relation.eissn","1435-232X"],["dc.relation.issn","1434-5161"],["dc.title","A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa"],["dc.type","journal_article"],["dc.type.internalPublication","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","631"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","639"],["dc.bibliographiccitation.volume","105"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Segebrecht, Lara"],["dc.contributor.author","Schubach, Max"],["dc.contributor.author","Charles, Perrine"],["dc.contributor.author","Alderman, Emily"],["dc.contributor.author","Brown, Kathleen"],["dc.contributor.author","Cadieux-Dion, Maxime"],["dc.contributor.author","Cartwright, Tracy"],["dc.contributor.author","Chen, Yanmin"],["dc.contributor.author","Costin, Carrie"],["dc.contributor.author","Fehr, Sarah"],["dc.contributor.author","Fitzgerald, Keely M"],["dc.contributor.author","Fleming, Emily"],["dc.contributor.author","Foss, Kimberly"],["dc.contributor.author","Ha, Thoa"],["dc.contributor.author","Hildebrand, Gabriele"],["dc.contributor.author","Horn, Denise"],["dc.contributor.author","Liu, Shuxi"],["dc.contributor.author","Marco, Elysa J"],["dc.contributor.author","McDonald, Marie"],["dc.contributor.author","McWalter, Kirsty"],["dc.contributor.author","Race, Simone"],["dc.contributor.author","Rush, Eric T"],["dc.contributor.author","Si, Yue"],["dc.contributor.author","Saunders, Carol"],["dc.contributor.author","Slavotinek, Anne"],["dc.contributor.author","Stockler-Ipsiroglu, Sylvia"],["dc.contributor.author","Telegrafi, Aida"],["dc.contributor.author","Thiffault, Isabelle"],["dc.contributor.author","Torti, Erin"],["dc.contributor.author","Tsai, Anne Chun-Hui"],["dc.contributor.author","Wang, Xin"],["dc.contributor.author","Zafar, Muhammad"],["dc.contributor.author","Keren, Boris"],["dc.contributor.author","Kornak, Uwe"],["dc.contributor.author","Boerkoel, Cornelius F"],["dc.contributor.author","Mirzaa, Ghayda"],["dc.contributor.author","Ehmke, Nadja"],["dc.date.accessioned","2020-06-23T10:09:44Z"],["dc.date.available","2020-06-23T10:09:44Z"],["dc.date.issued","2019"],["dc.description.abstract","Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. We performed exome sequencing in individuals with neurodevelopmental disorders. The cohort was identified using known Matchmaker Exchange nodes such as GeneMatcher. This method identified 15 individuals from 12 unrelated families with heterozygous pathogenic DLL1 variants (nonsense, missense, splice site, and one whole gene deletion). The most common features in our cohort were intellectual disability, autism spectrum disorder, seizures, variable brain malformations, muscular hypotonia, and scoliosis. We did not identify an obvious genotype-phenotype correlation. Analysis of one splice site variant showed an in-frame insertion of 12 bp. In conclusion, heterozygous DLL1 pathogenic variants cause a variable neurodevelopmental phenotype and multi-systemic features. The clinical and molecular data support haploinsufficiency as a mechanism for the pathogenesis of this DLL1-related disorder and affirm the importance of DLL1 in human brain development."],["dc.identifier.doi","10.1016/j.ajhg.2019.07.002"],["dc.identifier.pmid","31353024"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66647"],["dc.language.iso","en"],["dc.relation.eissn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","e2014481118"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Proceedings of the National Academy of Sciences"],["dc.bibliographiccitation.volume","118"],["dc.contributor.author","Rodríguez de los Santos, Miguel"],["dc.contributor.author","Rivalan, Marion"],["dc.contributor.author","David, Friederike S."],["dc.contributor.author","Stumpf, Alexander"],["dc.contributor.author","Pitsch, Julika"],["dc.contributor.author","Tsortouktzidis, Despina"],["dc.contributor.author","Velasquez, Laura Moreno"],["dc.contributor.author","Voigt, Anne"],["dc.contributor.author","Schilling, Karl"],["dc.contributor.author","Mattei, Daniele"],["dc.contributor.author","Long, Melissa"],["dc.contributor.author","Vogt, Guido"],["dc.contributor.author","Knaus, Alexej"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Wittler, Lars"],["dc.contributor.author","Timmermann, Bernd"],["dc.contributor.author","Robinson, Peter N."],["dc.contributor.author","Horn, Denise"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Kornak, Uwe"],["dc.contributor.author","Becker, Albert J."],["dc.contributor.author","Schmitz, Dietmar"],["dc.contributor.author","Winter, York"],["dc.contributor.author","Krawitz, Peter M."],["dc.date.accessioned","2021-04-14T08:30:13Z"],["dc.date.available","2021-04-14T08:30:13Z"],["dc.date.issued","2021"],["dc.identifier.doi","10.1073/pnas.2014481118"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/83155"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.eissn","1091-6490"],["dc.relation.issn","0027-8424"],["dc.title","A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.contributor.author","Kolanczyk, Mateusz"],["dc.contributor.author","Pech, Markus"],["dc.contributor.author","Zemojtel, Tomasz"],["dc.contributor.author","Yamamoto, Hiroshi"],["dc.contributor.author","Mikula, Ivan"],["dc.contributor.author","Calvaruso, Maria-Antonietta"],["dc.contributor.author","Richter-Dennerlein, Ricarda"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Ritz, Anita"],["dc.contributor.author","Kossler, Nadine"],["dc.contributor.author","Martasek, Pavel"],["dc.contributor.author","Spoerle, Ralf"],["dc.contributor.author","Smeitink, Jan"],["dc.contributor.author","Kornak, Uwe"],["dc.contributor.author","Vingron, Martin"],["dc.contributor.author","Nijtmans, Leo"],["dc.contributor.author","Nierhaus, Knud"],["dc.contributor.author","Lightowlers, Robert"],["dc.contributor.author","Schuelke, Markus"],["dc.contributor.author","Mundlos, Stefan"],["dc.date.accessioned","2020-06-19T09:54:57Z"],["dc.date.available","2020-06-19T09:54:57Z"],["dc.date.issued","2011"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66547"],["dc.title","Trophoblast Development Is Compromised By The Mitochondrial Dysfunction"],["dc.type","report"],["dc.type.internalPublication","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1236"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Genetics in Medicine"],["dc.bibliographiccitation.lastpage","1245"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Beyens, Aude"],["dc.contributor.author","Albuisson, Juliette"],["dc.contributor.author","Boel, Annekatrien"],["dc.contributor.author","Al-Essa, Mazen"],["dc.contributor.author","Al-Manea, Waheed"],["dc.contributor.author","Bonnet, Damien"],["dc.contributor.author","Bostan, Ozlem"],["dc.contributor.author","Boute, Odile"],["dc.contributor.author","Busa, Tiffany"],["dc.contributor.author","Canham, Nathalie"],["dc.contributor.author","Cil, Ergun"],["dc.contributor.author","Coucke, Paul J"],["dc.contributor.author","Cousin, Margot A"],["dc.contributor.author","Dasouki, Majed"],["dc.contributor.author","De Backer, Julie"],["dc.contributor.author","De Paepe, Anne"],["dc.contributor.author","De Schepper, Sofie"],["dc.contributor.author","De Silva, Deepthi"],["dc.contributor.author","Devriendt, Koenraad"],["dc.contributor.author","De Wandele, Inge"],["dc.contributor.author","Deyle, David R"],["dc.contributor.author","Dietz, Harry"],["dc.contributor.author","Dupuis-Girod, Sophie"],["dc.contributor.author","Fontenot, Eudice"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Gezdirici, Alper"],["dc.contributor.author","Ghoumid, Jamal"],["dc.contributor.author","Giuliano, Fabienne"],["dc.contributor.author","Diéz, Neus Baena"],["dc.contributor.author","Haider, Mohammed Z"],["dc.contributor.author","Hardin, Joshua S"],["dc.contributor.author","Jeunemaitre, Xavier"],["dc.contributor.author","Klee, Eric W"],["dc.contributor.author","Kornak, Uwe"],["dc.contributor.author","Landecho, Manuel F"],["dc.contributor.author","Legrand, Anne"],["dc.contributor.author","Loeys, Bart"],["dc.contributor.author","Lyonnet, Stanislas"],["dc.contributor.author","Michael, Helen"],["dc.contributor.author","Moceri, Pamela"],["dc.contributor.author","Mohammed, Shehla"],["dc.contributor.author","Muiño-Mosquera, Laura"],["dc.contributor.author","Nampoothiri, Sheela"],["dc.contributor.author","Pichler, Karin"],["dc.contributor.author","Prescott, Katrina"],["dc.contributor.author","Rajeb, Anna"],["dc.contributor.author","Ramos-Arroyo, Maria"],["dc.contributor.author","Rossi, Massimiliano"],["dc.contributor.author","Salih, Mustafa"],["dc.contributor.author","Seidahmed, Mohammed Z"],["dc.contributor.author","Schaefer, Elise"],["dc.contributor.author","Steichen-Gersdorf, Elisabeth"],["dc.contributor.author","Temel, Sehime"],["dc.contributor.author","Uysal, Fahrettin"],["dc.contributor.author","Vanhomwegen, Marine"],["dc.contributor.author","Van Laer, Lut"],["dc.contributor.author","Van Maldergem, Lionel"],["dc.contributor.author","Warner, David"],["dc.contributor.author","Willaert, Andy"],["dc.contributor.author","Collins, Tom R"],["dc.contributor.author","Taylor, Andrea"],["dc.contributor.author","Davis, Elaine C"],["dc.contributor.author","Zarate, Yuri"],["dc.contributor.author","Callewaert, Bert"],["dc.date.accessioned","2020-06-23T14:53:09Z"],["dc.date.available","2020-06-23T14:53:09Z"],["dc.date.issued","2018"],["dc.description.abstract","We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10."],["dc.identifier.doi","10.1038/gim.2017.253"],["dc.identifier.pmid","29323665"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66681"],["dc.language.iso","en"],["dc.relation.eissn","1530-0366"],["dc.relation.haserratum","/handle/2/66572"],["dc.relation.issn","1098-3600"],["dc.title","Arterial tortuosity syndrome: 40 new families and literature review"],["dc.type","journal_article"],["dc.type.internalPublication","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","483"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","492"],["dc.bibliographiccitation.volume","97"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Escande-Beillard, Nathalie"],["dc.contributor.author","Ganesh, Jaya"],["dc.contributor.author","Tan, Yu Xuan"],["dc.contributor.author","Al Bughaili, Mohammed"],["dc.contributor.author","Lin, Angela E"],["dc.contributor.author","Sahai, Inderneel"],["dc.contributor.author","Bahena, Paulina"],["dc.contributor.author","Reichert, Sara L"],["dc.contributor.author","Loh, Abigail"],["dc.contributor.author","Wright, Graham D"],["dc.contributor.author","Liu, Jaron"],["dc.contributor.author","Rahikkala, Elisa"],["dc.contributor.author","Pivnick, Eniko K"],["dc.contributor.author","Choudhri, Asim F"],["dc.contributor.author","Krüger, Ulrike"],["dc.contributor.author","Zemojtel, Tomasz"],["dc.contributor.author","van Ravenswaaij-Arts, Conny"],["dc.contributor.author","Mostafavi, Roya"],["dc.contributor.author","Stolte-Dijkstra, Irene"],["dc.contributor.author","Symoens, Sofie"],["dc.contributor.author","Pajunen, Leila"],["dc.contributor.author","Al-Gazali, Lihadh"],["dc.contributor.author","Meierhofer, David"],["dc.contributor.author","Robinson, Peter N"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Villarroel, Camilo E"],["dc.contributor.author","Byers, Peter"],["dc.contributor.author","Masri, Amira"],["dc.contributor.author","Robertson, Stephen P"],["dc.contributor.author","Schwarze, Ulrike"],["dc.contributor.author","Callewaert, Bert"],["dc.contributor.author","Reversade, Bruno"],["dc.contributor.author","Kornak, Uwe"],["dc.date.accessioned","2020-06-23T10:09:29Z"],["dc.date.available","2020-06-23T10:09:29Z"],["dc.date.issued","2015-09-03"],["dc.description.abstract","Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling."],["dc.identifier.doi","10.1016/j.ajhg.2015.08.001"],["dc.identifier.pmid","26320891"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66645"],["dc.language.iso","en"],["dc.relation.eissn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa"],["dc.type","journal_article"],["dc.type.internalPublication","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2368"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","2376"],["dc.bibliographiccitation.volume","135"],["dc.contributor.author","Egerer, Johannes"],["dc.contributor.author","Emmerich, Denise"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Chan, Wing Lee"],["dc.contributor.author","Meierhofer, David"],["dc.contributor.author","Tuysuz, Beyhan"],["dc.contributor.author","Marschner, Katrin"],["dc.contributor.author","Sauer, Sascha"],["dc.contributor.author","Barr, Francis A"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Kornak, Uwe"],["dc.date.accessioned","2020-06-23T14:53:19Z"],["dc.date.available","2020-06-23T14:53:19Z"],["dc.date.issued","2015-10"],["dc.description.abstract","Gerodermia osteodysplastica is a hereditary segmental progeroid disorder affecting skin, connective tissues, and bone that is caused by loss-of-function mutations in GORAB. The golgin, RAB6-interacting (GORAB) protein localizes to the Golgi apparatus and interacts with the small GTPase RAB6. In this study, we used different approaches to shed more light on the recruitment of GORAB to this compartment. We show that GORAB best colocalizes with trans-Golgi markers and is rapidly displaced upon Brefeldin A exposition, indicating a loose association with Golgi membranes. A yeast two-hybrid screening revealed a specific interaction with the small GTPase ADP-ribosylation factor (ARF5) in its active, GTP-bound form. ARF5 and RAB6 bind to GORAB via the same internal Golgi-targeting RAB6 and ARF5 binding (IGRAB) domain. Two GORAB missense mutations identified in gerodermia osteodysplastica patients fall within this IGRAB domain. GORAB carrying the mutation p.Ala220Pro had a cytoplasmic distribution and failed to interact with both RAB6 and ARF5. In contrast, the p.Ser175Phe mutation displaced GORAB from the Golgi compartment to vesicular structures and selectively impaired ARF5 binding. Our findings indicate that the IGRAB domain is crucial for the Golgi localization of GORAB and that loss of this localization impairs its physiological function."],["dc.identifier.doi","10.1038/jid.2015.192"],["dc.identifier.pmid","26000619"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66683"],["dc.language.iso","en"],["dc.relation.eissn","1523-1747"],["dc.relation.issn","0022-202X"],["dc.title","GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting"],["dc.type","journal_article"],["dc.type.internalPublication","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","609"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","616"],["dc.bibliographiccitation.volume","64"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Koenig, Rainer"],["dc.contributor.author","Alisch, Franz"],["dc.contributor.author","Güneş, Nilay"],["dc.contributor.author","Hausser, Ingrid"],["dc.contributor.author","Saha, Namrata"],["dc.contributor.author","Beck-Woedl, Stefanie"],["dc.contributor.author","Haack, Tobias B"],["dc.contributor.author","Thiel, Christian"],["dc.contributor.author","Kamrath, Clemens"],["dc.contributor.author","Tüysüz, Beyhan"],["dc.contributor.author","Henning, Stephan"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Hoffmann, Katrin"],["dc.contributor.author","Horn, Denise"],["dc.contributor.author","Kornak, Uwe"],["dc.date.accessioned","2020-06-23T14:53:40Z"],["dc.date.available","2020-06-23T14:53:40Z"],["dc.date.issued","2019-07"],["dc.description.abstract","Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia. All had elevated liver enzymes and acute liver failure during febrile episodes leading to early demise in two of them. The only surviving patient had been treated with immunoglobulins. Through exome sequencing we identified mutations in NBAS, coding for a protein involved in Golgi-to-ER transport. NBAS deficiency causes several rare conditions ranging from isolated recurrent acute liver failure to a multisystem disorder mainly characterized by short stature, optic nerve atrophy and Pelger-Huët anomaly (SOPH). Since we subsequently verified Pelger-Huët anomaly in two of the patients the diagnosis SOPH syndrome was unequivocally proven. Our data show that SOPH syndrome can be regarded as a differential diagnosis for the progeroid forms of cutis laxa in early infancy and that possibly treatment of the hypogammaglobulinemia can be of high relevance for the prognosis."],["dc.identifier.doi","10.1038/s10038-019-0602-8"],["dc.identifier.pmid","31015584"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/66687"],["dc.language.iso","en"],["dc.relation.eissn","1435-232X"],["dc.relation.issn","1434-5161"],["dc.title","SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","btac418"],["dc.bibliographiccitation.journal","Bioinformatics"],["dc.contributor.author","May, Vinzenz"],["dc.contributor.author","Koch, Leonard"],["dc.contributor.author","Fischer-Zirnsak, Björn"],["dc.contributor.author","Horn, Denise"],["dc.contributor.author","Gehle, Petra"],["dc.contributor.author","Kornak, Uwe"],["dc.contributor.author","Beule, Dieter"],["dc.contributor.author","Holtgrewe, Manuel"],["dc.contributor.editor","Birol, Inanc"],["dc.date.accessioned","2022-07-01T07:35:00Z"],["dc.date.available","2022-07-01T07:35:00Z"],["dc.date.issued","2022"],["dc.description.abstract","Abstract Motivation While the identification of small variants in panel sequencing data can be considered a solved problem, the identification of larger, multi-exon copy number variants (CNVs) still poses a considerable challenge. Thus, CNV calling has not been established in all laboratories performing panel sequencing. At the same time such laboratories have accumulated large data sets and thus have the need to identify copy number variants on their data to close the diagnostic gap. Results In this manuscript we present our method clearCNV that addresses this need in two ways. First, it helps laboratories to properly assign data sets to enrichment kits. Based on homogeneous subsets of data, clearCNV identifies CNVs affecting the targeted regions. Using real-world data sets and validation, we show that our method is highly competitive with previous methods and preferable in terms of specificity. Availability The software is available for free under a permissible license at {{https://github.com/bihealth/clear-cnv}} Supplementary information Supplementary data are available at Bioinformatics online."],["dc.identifier.doi","10.1093/bioinformatics/btac418"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/112064"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-581"],["dc.relation.eissn","1460-2059"],["dc.relation.issn","1367-4803"],["dc.title","ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]