1. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay. Issue 9 (18th July 2019) Authors: Jahic, Amir; Günther, Sven; Muschol, Nicole; Fossøy Stadheim, Barbro; Braaten, Øivind; Kjensli Hyldebrandt, Hanne; Kuiper, Gé‐Ann; Tylee, Karen; Wijburg, Frits A.; Beetz, Christian Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019) Authors: Yüksel, Zafer; Vogel, Florian; Alhashem, Amal M.; Alanzi, Talal S.A.; Tabarki, Brahim; Kampe, Kapil; Kandaswamy, Krishna K.; Werber, Martin; Bertoli‐Avella, Aida M.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Issue 5 (13th March 2022) Authors: Salah, Azza; Almannai, Mohammed; Al Ojaimi, Mode; Radefeldt, Mandy; Gulati, Nishtha; Iqbal, Maria; Alawbathani, Salem; Al‐Ali, Ruslan; Beetz, Christian; El‐Hattab, Ayman W. Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif. Issue 2 (27th November 2017) Authors: Bock, Andrea S.; Günther, Sven; Mohr, Julia; Goldberg, Lisa V.; Jahic, Amir; Klisch, Cornelia; Hübner, Christian A.; Biskup, Saskia; Beetz, Christian Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family. Issue 5 (20th December 2022) Authors: Alawbathani, Salem; Khan, Suliman; Westenberger, Ana; Beetz, Christian; Lingappa, Lokesh Journal: Clinical genetics Issue: Volume 103:Issue 5(2023) Page Start: 609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Issue 5 (11th August 2021) Authors: Musa, Noha; Elmonem, Mohamed A.; Beetz, Christian; Hafez, Mona; Hassan, Mona; Rolfs, Arndt; Selim, Laila; Elkhateeb, Nour Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. Issue 10 (22nd March 2022) Authors: Høyer, Helle; Hilmarsen, Hilde T; Sunder-Plassmann, Raute; Braathen, Geir J; Andersen, Peter M; Beetz, Christian; Hacker, Sandra; Holla, Øystein L; Kurth, Ingo; Löscher, Wolfgang N; Reiter, Simone B C F; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; S... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 1024 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. Issue 1 (19th May 2020) Authors: Massadeh, Salam; Alhashem, Amal; van de Laar, Ingrid M.B.H.; Alhabshan, Fahad; Ordonez, Natalia; Alawbathani, Salem; Khan, Suliman; Kabbani, Mohamed S.; Chaikhouni, Farah; Sheereen, Atia; Almohammed, Iman; Alghamdi, Bader; Frohn‐Mulder, Ingrid; Ahmad, Salim; Beetz, Christian; Bauer, Peter; Wessel... Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN). Issue 7 (13th May 2019) Authors: Gregory, Allison; Lotia, Mitesh; Jeong, Suh Young; Fox, Rachel; Zhen, Dolly; Sanford, Lynn; Hamada, Jeff; Jahic, Amir; Beetz, Christian; Freed, Alison; Kurian, Manju A.; Cullup, Thomas; van der Weijden, Marlous C. M.; Nguyen, Vy; Setthavongsack, Naly; Garcia, Daphne; Krajbich, Victoria; Pham, Tha... Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy. Issue 4 (16th January 2021) Authors: Abbasi‐Moheb, Lia; Westenberger, Ana; Alotaibi, Maha; Alghamdi, Malak Ali; Hertecant, Jozef L.; Ariamand, Amir; Beetz, Christian; Rolfs, Arndt; Bertoli‐Avella, Aida M.; Bauer, Peter Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗