Aslı Tolun - Publications


  • Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A (2017) Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. Am J Med Genet A. Jun 21.

  • Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S (2017). Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. Eur J Med Genet. 60:268-274.

  • Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A (2017). Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. Eur J Hum Genet. 25:315-323.

  • Durmuş H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, Serdaroğlu-Oflazer P (2016). Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology 87:799-805.

  • Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features (2017). Neurology 87:77-85.

  • Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ (2016). A role of autophagy in spinocerebellar ataxia-rare exception or general principle? Autophagy. 22:0.
  • Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M (2016). Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. Elife. 26;5.

  • Seven M, Güven A, Bozoğlu TM, Tolun A. Detecting PORCN microdeletions in a large family with focal dermal hypoplasia (2015). Genet Couns. 26:195-204.

  • Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S (2015). RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet A. 167:3148-52.

  • Batini C, Hallast P, Zadik D, Delser PM, Benazzo A, Ghirotto S, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Dupuy BM, Eriksen HA, King TE, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Tolun A, Winney B, Jobling MA (2015). Large-scale recent expansion of European patrilineages shown by population resequencing. Nat Commun. 19;6:7152.

  • Yüceyar N, Ayhan Ö, Karasoy H, Tolun A (2015). Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. Neuromuscul Disord. 25:340-4.

  • Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Destro Bisol G, Dupuy BM, Eriksen HA, Jorde LB, King TE, Larmuseau MH, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Schempp W, Sears M, Tolun A, Tyler-Smith C, Van Geystelen A, Watkins S, Winney B, Jobling MA (2015). The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades. Mol Biol Evol. 32:661-73.

  • Durlu YK, Köroğlu Ç, Tolun A (2014). Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol. 132:1185-91.

  • Erken E, Köroğlu Ç, Yıldız F, Özer HT, Gülek B, Tolun A (2015). A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. Mod Rheumatol. 25:315-21.

  • Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD,

  • Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG (2014). Exome sequencing links corticospinal motor neuron

  • disease to common neurodegenerative disorders. Science. 31;343:506-11.

  • Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A (2014). Adult phenotype and further phenotypic variability in SRD5A3-CDG. BMC Med Genet. 15:10.

  • Ayhan Ö, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A (2014). Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. J Med Genet. 51:239-44

  • Yıldırım Y, Kerem M, Köroğlu Ç, Tolun A (2014). A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family. Eur J Hum Genet. 22:333-7.

  • Köroğlu Ç, Seven M, Tolun A (2013). Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J Med Genet. 50:515-20.

  • Guven A, Tolun A. TBC1D24 truncating mutation resulting in severe

  • Neurodegeneration (2013). J Med Genet. 50:199-202.

  • Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A (2013). DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord. 19:320-4.

  • Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A (2012). Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics, 13:189–194.

  • Ebba Lohmann, Çiğdem Köroğlu, Hasmet A. Hanagasi, Burcu Dursun, Erşan Taşan, Aslıhan Tolun (2012). A Homozygous Frameshift Mutation of Sepiapterin Reductase Gene causing Parkinsonism with Onset in Childhood. Parkinsonism & Related Disorders, 18, 191-193.

  • Yildirim Y, Kocasoy Orhan E, Ugur Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoglu S, Tolun A. (2011). A Frameshift Mutation of ERLIN2 in Recessive Intellectual Disability, Motor Dysfunction and Multiple Joint Contractures. Hum Mol Genet. 20:1886-92.

  • Yildirim Y, Tolun A, Tüysüz B. (2011). The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. Am J Med Genet A. 155, 134-40.

  • Jana Behunova, Eva Zavadilikova, Tarik M. Bozoglu, Aysegul Gunduz, Aslihan Tolun, Cengiz Yalcinkaya (2010). Familial Microhydranencephaly, a family that does not map to 16p13.13-12.2: hereditary fetal brain degeneration and fetal brain disruption sequence. Clin Dysmorphol. 19:107-18.

  • Sedjaï F, Acquaviva C, Chevrier V, Chauvin JP, Coppin E, Aouane A, Coulier F, Tolun A, Pierres M, Birnbaum D, Rosnet O. (2010). Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein. Journal of Cell Science 123 (Pt 14):2391-401.

  • Ugur Iseri SA, Durlu YK, Tolun A. (2010) A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 18, 1121–1126.

  • Duru N, Ugur Iseri SA, Selçuk N, Tolun A (2010) Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. J Neurogenet. 24, 207-15.

  • Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A 2009). Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics (DOI: 10.1007/s10048-009-0191-3).

  • Ugur SA, Tolun A (2008) Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. Hum Mol Genet 1;17:2644-53

  • Ugur SA, Tolun A (2008). A deletion in DRCTNNB1A associated with hypo-myelination and juvenile onset cataract. Eur J Hum Genet 16: 261-264.

  • Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A (2006). Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. AJHG 79: 650-656.

  • Sönmez, F. M., Celep, F., Uğur, S. A. & Tolun, A (2006). Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family. J Child Neurology 21:333-337.

  • Suna Önengüt, Sibel Uğur, Hatice Karasoy, Nuran Yüceyar, Aslıhan Tolun (2004). Identification of a Locus for an Autosomal Recessive Hyaline Body Myopathy at Chromosome 3p23-p21. Neuromuscular Diseases 14:4-9.

  • Kılınç MO, Ninis VN, Uğur SA, Tüysüz B, Seven M, Balcı S, Goodship J, Tolun A (2003). Is the novel SCKL3 at 14q23 a Predominant Seckel Locus? Eur J Hum Genet 11:851-857.

  • Vasiliki Ninidu Ninis, Okyay Kilinç, Murat Kandemir, Elif Dagli, Aslihan Tolun. High Frequency of 9T and CFTR Mutations in Children with Idiopathic Bronchiectasis. J Med Genet 40:530-536. Geri çekildi.

  • Kilinç MO, Ninis VN, Dagli E, Demirkol M, Özkinay F, Arikan Z, Çogulu Ö, Hüner G, Karakoç F, Tolun A (2002). Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of alleles in Turkish patients. Amer J Med Genet, 113:250-257.

  • Baris I, Kilinc MO, Tolun A (2001). Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin Genet 60, 452-455.

  • Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HBSM, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PJ, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith R, Jobling MA (2000). Y-chromosomal diversity within Europe is clinal and influenced primarily by geography rather than language. Am J Hum Genet 67:1526-1543.

  • Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa, Pisano M, Fortina P, Zelante L, Estivill X and the Genetic Analysis Consortium of GJB2 35delG (2000). High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 8, 19-23.

  • Kasvaslar GN, Önengüt S, Derman O, Kaya A, Tolun A (2000). A novel genetic disorder Micro- Hydranencephaly (MHAC) Maps to Chromosome 16p13.13-12.1. Am J Hum Genet 65, 1705-1709.

  • Önengüt S, Kavaslar GN, Battaloglu E, Serdaroglu P, Deymeer F, Özdemir C, Calafell F, Tolun A (2000). Deletion pattern in the dystrophin gene in Turks and comparison to Europeans and Indians.Annals of Human Genetics 64, 33-40.

  • Kilinç O, Ninis V, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Özkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I (2000). Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA->G demonstrates a severe phenotype for the mutation. J Med Genet 37, 307-309.

  • Teraoka SN, Telatar M, Becker-Catania S, Liang T, Önengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P (1999). Splicing defects in the Ataxia-Telangiectasia gene ATM : underlying mutations and consequences Am J Hum Genet 64, 1617.

  • Oktay S, Cabadak H, Iskender E, Goren Z, Caliskan E, Orun O, Aslan N, Karaalp A, Tolun A, Ulusoy NB, Levey AI, El-Fakahany EE, Kan B (1998). Evidence for the Presence of Muscarinic M2 and M4 receptors in Guinea-pig Gallbladder Smooth Muscle. J Auton Pharm 18, 194-204.

  • Wright J, Teraoka S, Önengüt S, Tolun A, Gatti RA, Ochs HD, Concannon P (1996). A High Frequency of Distinct ATM Genes Mutations in Ataxia-Telangiectasia Am J Hum Genet 59, 839-946.

  • Calafel F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L. (1996). From Asia to Europe: Mitochondrial DNA Sequence Variability in Bulgarians and Turks. Am Hum Genet 60, 35-49.

  • Lange E, Borresen AL, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liagn T, McConville C, Polakow J, Porras, Rotman G, Sanal Ö, Seikhavandi S, Shiloh Y, Sobel E, Taylor M, Telatar M, Teraoka S, Tolun A, Udar N, Uhrhammer N, Vanagaite L, Wang Z, Wapelhorst B, Yang HM, Yang L, Ziv Y, and Gatti RA (1995). Localization of an ataxia-telangiectasia gene to a 500 kb interval on chromosome 11p23.1: linkage analysis of 176 families by an international consortium. Am Hum Genet 57, 112-119.

  • Kavaslar GN, Telatar M, Serdaroglu P, Deymeer F, Özdemir C and Tolun A. (1995) Identification of a one base pair deletion in exon 6 of the dysdystrophin gene. Human Mutation 6, 85-86.

  • Telatar M, Concannon P and Tolun A (1994). Dinucleotide repeat polymorphism at the NCAM locus. Hum Mol Genet 3, 842.

  • Telatar M, Concannon P and Tolun A (1994) Dinucleotide repeat polymorphism at 11q23. Hum Genet 94, 109.

  • Angelicheva D, Boteva K, Jordanova A, Savov A, Kufardjieva A, Tolun A, Telatar M, Akarsubasi A, Köprübasi F, Aydogdu S, Demirkol M, Kurdoglu G, Constantinou-Deltas CD, Georgiou C, Dean M, Ivaschenko T, Baranov V and Kalaydjieva L (1994). Cystic Fibrosis Patients From The Black Sea Region: The 1677delTA Mutations. Human Mutation 3, 353-357.

  • Gülbaran Z, Habiboglu E, Battaloglu E, Eren M, Çelikoglu F, Çalys Ö, Çelikoglu S, and Tolun A (1993). Detection of Mycobacterium Tubercolosis in Sputum Samples. Doga Dergisi 18, 187.

  • Sanal Ö, Lange E, Telatar M, Sobel E, Salazar-Novak J, Ersoy F, Concannon P, Tolun A and Gatti RA (1992). Ataxia-Telangiectasia: Linkage analysis of chromosome 11q23 markers in Turkish families. FASEB J 6, 2848.

  • Battaloglu E, Telatar M, Deymeer F, Serdaroglu P, Kuseyri F, Özdemir C, Yüksel Apak M and Tolun A (1992). DNA analysis in Turkish Duchenne/Becker muscular dystrophy families. Hum Genet 89, 635-639.

  • Basak AN, Özçelik H, Özer A, Tolun A, Aksoy M, Ridolfi F, Ulukutlu L, Akar N, Gürgey A and Kirdar B (1992). The Molecular Basis of ?Thalassemia in Turkey. Hum Genet 89, 315-318.

  • Battaloglu E, Telatar M, Deymeer F, Serdaroglu P, Özdemir C, Kuseyri F, Yüksel-Apak M and Tolun A (1992). Carrier detection by DNA analysis in Duchenne muscular dystrophy families. Turkish J Pediat 34, 79-92.

  • Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa L, Charmley P, Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor AMR, Shiloh Y, Lange K and Gatti RA (1991). Localization of an Ataxia-Telangiectasia Locus to a 3-cM Interval on Chromosome 11q23: Linkage Analysis of 111 Families by an International Consortium. Am Hum Genet 49, 1263-1279.

  • Hugnot JP, R?ɬ©can D, Jeanpierre M, Kaplan JC and Tolun A (1991). A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD). Nucl Acids Res 19, 3159.

  • Basak AN, Özçelik H, Özer A, Tolun A and Kirdar B (1991). Molecular Characteristics of Turkish Patients with B-Thalassemia. Doga Dergisi 15, 426-434. Tolun A, Yüksel-Apak M, Özdemir C, Türkdogan N and Karaman B (1989). Duchenne Kas Distrofili Ailelerde DNA Analizi ile Tasyyycy Tanysy (Carrier state determination in families at risk for DMD). Doga Dergisi 13, 173-182.

  • Goonewardena P, Gustavson KH, Holmgren G, Tolun A, Chotai J Johnsen E and Pettersson U (1986). Analysis of Fragile X-Mental Retardation Families Using Flanking Polymorphic DNA Probes. Clinical Genetics 30, 249-254.

  • Tolun A (1985) Plasmid Incompatibility and Replication in "Industrial Aspects of Biochemistry and Genetics", series A: Life Sciences 87, 1-7. Ed: Alaeddino?lu, Demain and Lancini Tolun A and Helinski DR (1982). Separation of the Minimal Replication Region of the F Plasmid into a Replication Origin Segment and a Trans-Acting Segment. Molecular and General Genetics 186, 372-377.

  • Shaffermen A, Stalker DM, Tolun A, Kolter R and Helinski DR (1981). Structure - Function Relationships in Essential Regions for Plasmid Replication in "Molecular Biology, Pathogenicity and Ecology of Bacterial Plasmids", 259-270, Ed: Levy, Clowes, Koenig.

  • Tolun A and Helinski DR (1981). Direct Repeats of the F Plasmid incB Region Express F Incompatibility Cell 24, 687-694.

  • Persson H, Perricaudet M, Tolun A, Philipson A and Pettersson U (1979). Purification of RNA-DNA Hybrids by Exclusion Chromatography. Journal of Bacterial Chemistry 254, 7999-8003.

  • Tolun A, Aleström P and Pettersson U (1979). Sequence of Inverted Terminal Repetitions from Different Adenoviruses: Demonstration of Conserved Sequences and Homology Between Sa7 Termini and SV40 DNA Cell 17, 705-713.

  • Weingartner B, Winnacker EL, Tolun A and Pettersson U (1976). Two Complementary Strand-specific Termination Sites for Adenovirus DNA Replication. Cell 9, 259-268.

  • Sussenbach JS, Tolun A and Pettersson U (1976). Nature of the Single Stranded DNA in Replicating Adenovirus type 5 DNA. Journal of Virology 20, 532-534.

  • Tolun A and Pettersson U (1975). Termination Sites for Adeno- virus type 2 DNA Replication. Journal of Virology 16, 759-766.

  • Tolun A, Christensen R and Pollard EC (1974). Repair of Radiation induced Strand Breaks as Related to the Inducible Inhibitor of Postirradiation DNA Degradation. Biophysical Journal 14, 691-696.