1. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. Issue 3 (18th November 2015) Authors: Ibrahim, Daniel M.; Tayebi, Naeimeh; Knaus, Alexej; Stiege, Asita C.; Sahebzamani, Afsaneh; Hecht, Jochen; Mundlos, Stefan; Spielmann, Malte Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Issue 5 (11th April 2019) Authors: Krenn, Martin; Knaus, Alexej; Westphal, Dominik S.; Wortmann, Saskia B.; Polster, Tilman; Woermann, Friedrich G.; Karenfort, Michael; Mayatepek, Ertan; Meitinger, Thomas; Wagner, Matias; Distelmaier, Felix Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 5(2019) Page Start: 968 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. 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) ↗
7. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome. Issue 11 (2nd October 2022) Authors: Brand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung‐Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PIGN encephalopathy: Characterizing the epileptology. Issue 4 (18th February 2022) Authors: Bayat, Allan; de Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carl... Journal: Epilepsia Issue: Volume 63:Issue 4(2022) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Issue 8 (19th May 2016) Authors: Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu‐Rachma, Jubran; Thompson, Miles D.; Cole, David E.; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R.; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold; Murakami, Yoshiko; H... Journal: Human mutation Issue: Volume 37:Issue 8(2016) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function. Issue 10 (12th June 2017) Authors: Zhao, Jin James; Halvardson, Jonatan; Knaus, Alexej; Georgii‐Hemming, Patrik; Baeck, Peter; Krawitz, Peter M.; Thuresson, Ann‐Charlotte; Feuk, Lars Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗