1. CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. (3rd September 2021) Authors: Peng, Chengyao; Dieck, Simon; Schmid, Alexander; Ahmad, Ashar; Knaus, Alexej; Wenzel, Maren; Mehnert, Laura; Zirn, Birgit; Haack, Tobias; Ossowski, Stephan; Wagner, Matias; Brunet, Theresa; Ehmke, Nadja; Danyel, Magdalena; Rosnev, Stanislav; Kamphans, Tom; Nadav, Guy; Fleischer, Nicole; Fröhlich,... Journal: NAR genomics and bioinformatics Issue: Volume 3:issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Crowdsourced direct-to-consumer genomic analysis of a family quartet. (December 2015) Authors: Corpas, Manuel; Valdivia-Granda, Willy; Torres, Nazareth; Greshake, Bastian; Coletta, Alain; Knaus, Alexej; Harrison, Andrew; Cariaso, Mike; Moran, Federico; Nielsen, Fiona; Swan, Daniel; Weiss Solís, David; Krawitz, Peter; Schacherer, Frank; Schols, Peter; Yang, Huangming; Borry, Pascal; Glusman... Journal: BMC genomics Issue: Volume 16:Number 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DeepCNV: a deep learning approach for authenticating copy number variations. Issue 5 (12th January 2021) Authors: Glessner, Joseph T; Hou, Xiurui; Zhong, Cheng; Zhang, Jie; Khan, Munir; Brand, Fabian; Krawitz, Peter; Sleiman, Patrick M A; Hakonarson, Hakon; Wei, Zhi Journal: Briefings in bioinformatics Issue: Volume 22:Issue 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. Issue 5 (20th October 2020) Authors: Jezela‐Stanek, Aleksandra; Szczepanik, Elżbieta; Mierzewska, Hanna; Rydzanicz, Małgorzata; Rutkowska, Karolina; Knaus, Alexej; Śmigiel, Robert; Stępniak, Iwona; Markiewicz, Michał G.; Boniel, Snir; Krawitz, Peter; Płoski, Rafał Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 468 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature†. Issue 12 (20th October 2014) Authors: Ehmke, Nadja; Parvaneh, Nima; Krawitz, Peter; Ashrafi, Mahmoud‐Reza; Karimi, Parviz; Mehdizadeh, Mehrzad; Krüger, Ulrike; Hecht, Jochen; Mundlos, Stefan; Robinson, Peter N. Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3170 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hematologist‐Level Classification of Mature B‐Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data. Issue 10 (9th June 2020) Authors: Zhao, Max; Mallesh, Nanditha; Höllein, Alexander; Schabath, Richard; Haferlach, Claudia; Haferlach, Torsten; Elsner, Franz; Lüling, Hannes; Krawitz, Peter; Kern, Wolfgang Journal: Cytometry Issue: Volume 97:Issue 10(2020) Page Start: 1073 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. Issue 3 (5th December 2022) Authors: Ishorst, Nina; Henschel, Leonie; Thieme, Frederic; Drichel, Dmitriy; Sivalingam, Sugirthan; Mehrem, Sarah L.; Fechtner, Ariane C.; Fazaal, Julia; Welzenbach, Julia; Heimbach, André; Maj, Carlo; Borisov, Oleg; Hausen, Jonas; Raff, Ruth; Hoischen, Alexander; Dixon, Michael; Rada‐Iglesias, Alvaro; B... Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 3(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Jannovar: A Java Library for Exome Annotation. Issue 5 (9th April 2014) Authors: Jäger, Marten; Wang, Kai; Bauer, Sebastian; Smedley, Damian; Krawitz, Peter; Robinson, Peter N. Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course. Issue 1 (December 2016) Authors: Kallinich, Tilmann; Thorwarth, Anne; von Stuckrad, Sae-Lim; Rösen-Wolff, Angela; Luksch, Hella; Hundsdoerfer, Patrick; Minden, Kirsten; Krawitz, Peter Journal: Pediatric rheumatology online journal Issue: Volume 14:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Lessons learned from 40 novel PIGA patients and a review of the literature. (26th May 2020) Authors: Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Céc... Journal: Epilepsia Issue: Volume 61:issue 6(2020) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗