Institut für Humangenetik
 Universitätsmedizin Leipzig
Fotograf: Stefan Straube

Publikationen

Erst- und Seniorautorschaft

2016

 
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome
Strehlow V, Swinkels MEM, Rhys HT, Rapps N, Syrbe S, Dorn T, Lemke JR
Mol Syndromol. 2016 Aug 24 doi: 10.1159/000448445
 
A recurrent mutation in KCNA2 as a novel cause  of hereditary spastic paraplegia and ataxia.
Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcatraz WE, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik, M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR
Ann Neurol. 2016 Aug 20 doi: 10.1002/ana.24762
PMID:27543892

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.
Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.
PMID: 27164704
 
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.
Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, Uhlig HH, Abou Jamra R.
Cell Oncol (Dordr). 2016 Jun;39(3):253-63. doi: 10.1007/s13402-016-0270-z. Epub 2016 Feb 26.
PMID: 26443266
 
From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.
Neubauer BA, Lemke JR.
Neuropediatrics. 2016 Jan;47(1):5-11. doi: 10.1055/s-0035-1566448. Epub 2015 Nov 16.
PMID: 26569157
 
Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.
Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C.
Gene. 2016 May 31;590(1):1-4. doi: 10.1016/j.gene.2016.05.040. [Epub ahead of print]
PMID: 27259663
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2015
 
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.
Nat Genet. 2015 Apr;47(4):393-9. doi: 10.1038/ng.3239. Epub 2015 Mar 9.
PMID: 25751627
 
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R.
Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.
PMID: 26637978
 
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA*, Davey MG, Bolz HJ. shared last authors
Elife. 2015 Sep 19;4. pii: e08077. doi: 10.7554/eLife.08077.
PMID: 26386247
 
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA.
Hum Mol Genet. 2015 Jun 1;24(11):3172-80. doi: 10.1093/hmg/ddv069. Epub 2015 Feb 20.
PMID: 25701870
 
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.
Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, Sticht H, Pohl KJ, Cui Y, Reis A, Morrison H, Abou Jamra R.
Hum Mutat. 2015 Feb;36(2):270-8. doi: 10.1002/humu.22737.
PMID: 25504542
 
Protease-antiprotease imbalances differ between Cystic Fibrosis patients' upper and lower airway secretions.
Hentschel J, Fischer N, Janhsen WK, Markert UR, Lehmann T, Sonnemann J, Böer K, Pfister W, Hipler UC, Mainz JG.
J Cyst Fibros. 2015 May;14(3):324-33. doi: 10.1016/j.jcf.2014.09.003. Epub 2014 Oct 5.
PMID: 25286826
 
Investigation of GRIN2A in common epilepsy phenotypes.
Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR.
Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2.
PMID: 26220384
 
Recurrent null mutation in SPG20 leads to Troyer syndrome.
Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R.
Mol Cell Probes. 2015 Oct;29(5):315-8. doi: 10.1016/j.mcp.2015.05.006. Epub 2015 May 20.
PMID: 26003402
 
The Spectrum of GRIN2A-associated disorders
Strehlow V, Heyne HO, Lemke JR
Epileptologie 2015: 32: 147-151
 
 
Letzte Änderung: 25.08.2016, 14:00 Uhr
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