1. A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Issue 4 (16th July 2021) Authors: Kaygusuz, Emrah; Khayyat, Arwa Ishaq A.; Abdullah, Uzma; Budde, Birgit Susanne; Asif, Maria; Ahmed, Ilyas; Makhdoom, Ehtisham Ul Haq; Sur‐Erdem, Ilknur; Baig, Jamshaid Mahmood; Khan, Muhammad Mohsin Ali; Toliat, Mohammad Reza; Becker, Christian; Anwar, Haseeb; Iqbal, Maria; Fischer, Sarah; Jameel... Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A large deletion in RPGR causes XLPRA in Weimaraner dogs. Issue 1 (December 2016) Authors: Kropatsch, Regina; Akkad, Denis; Frank, Matthias; Rosenhagen, Carsten; Altmüller, Janine; Nürnberg, Peter; Epplen, Jörg; Dekomien, Gabriele Journal: Canine genetics and epidemiology Issue: Volume 3:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Issue 10 (17th August 2017) Authors: Weissbach, Susann; Reinert, Marie‐Christine; Altmüller, Janine; Krätzner, Ralph; Thiele, Holger; Rosenbaum, Thorsten; Nürnberg, Peter; Gärtner, Jutta Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. Issue 9 (29th June 2016) Authors: Moosa, Shahida; Fano, Virginia; Obregon, Maria Gabriela; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Nishimura, Gen; Wollnik, Bernd Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2436 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family. Issue 4 (16th December 2021) Authors: Asif, Maria; Mocanu, Ionut Dragos; Abdullah, Uzma; Höhne, Wolfgang; Altmüller, Janine; Makhdoom, Ehtisham Ul Haq; Thiele, Holger; Baig, Shahid Mahmood; Nürnberg, Peter; Graul‐Neumann, Luitgard; Hussain, Muhammad Sajid Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel remitting leukodystrophy associated with a variant in FBP2. Issue 2 (11th March 2021) Authors: Gizak, Agnieszka; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Wiśniewski, Janusz; Duda, Przemysław; Ohlenbusch, Andreas; Huppke, Brenda; Henneke, Marco; Höhne, Wolfgang; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Rakus, Dariusz; Gärtner, Jutta; Huppke, Peter Journal: Brain communications Issue: Volume 3:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Issue 1 (15th September 2019) Authors: Karsak, Meliha; Glebov, Konstantin; Scheffold, Marina; Bajaj, Thomas; Kawalia, Amit; Karaca, Ilker; Rading, Sebastian; Kornhuber, Johannes; Peters, Oliver; Diez‐Fairen, Monica; Frölich, Lutz; Hüll, Michael; Wiltfang, Jens; Scherer, Martin; Riedel‐Heller, Steffi; Schneider, Anja; Heneka, Michael T... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. Issue 3 (6th December 2015) Authors: Yigit, Gökhan; Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Möller‐Hartmann, Claudia; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Wollnik, Bernd Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 728 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Issue 1 (December 2017) Authors: Huppke, Peter; Weissbach, Susann; Church, Joseph; Schnur, Rhonda; Krusen, Martina; Dreha-Kulaczewski, Steffi; Kühn-Velten, W. Nikolaus; Wolf, Annika; Huppke, Brenda; Millan, Francisca; Begtrup, Amber; Almusafri, Fatima; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Müller, Michael; Gärtner,... Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. (10th June 2021) Authors: Koko, Mahmoud; Yahia, Ashraf; Elsayed, Liena E.; Hamed, Ahlam A.; Mohammed, Inaam N.; Elseed, Maha A.; Hamad, Muddathir H. A.; Babai, Arwa M.; Siddig, Rayan A.; Abd Allah, Amal S. I.; Mohamed, Mayada; EL‐Amin, Melka; Esteves, Typhaine; Altmüller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nür... Journal: Annals of human genetics Issue: Volume 85:Number 5(2021) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗