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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium; Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G. Iqbal M, et al. Among authors: beetz c. Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9. Genet Med. 2021. PMID: 34244665 Free PMC article.
First HPSE2 missense mutation in urofacial syndrome.
Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: beetz c. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471
LRIG2 mutations cause urofacial syndrome.
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. Stuart HM, et al. Among authors: beetz c. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11. Am J Hum Genet. 2013. PMID: 23313374 Free PMC article.
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Beetz C, et al. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11. Proc Natl Acad Sci U S A. 2013. PMID: 23479643 Free PMC article. Clinical Trial.
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga RE, Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, Beetz C. Varga RE, et al. Among authors: beetz c. Hum Mutat. 2013 Jun;34(6):860-3. doi: 10.1002/humu.22309. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23483706
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: beetz c. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: beetz c. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Neuray C, et al. Among authors: beetz c. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178. Brain. 2020. PMID: 32705143 Free PMC article.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
Maroofian R, Sedmík J, Mazaheri N, Scala M, Zaki MS, Keegan LP, Azizimalamiri R, Issa M, Shariati G, Sedaghat A, Beetz C, Bauer P, Galehdari H, O'Connell MA, Houlden H. Maroofian R, et al. Among authors: beetz c. J Med Genet. 2021 Jul;58(7):495-504. doi: 10.1136/jmedgenet-2020-107048. Epub 2020 Jul 27. J Med Genet. 2021. PMID: 32719099 Free PMC article.
148 results