| Year |
Citation |
Score |
| 2022 |
Caglayan AO, Tuysuz B, Gül E, Alkaya DU, Yalcinkaya C, Gleeson JG, Bilguvar K, Gunel M. Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. Journal of Human Genetics. PMID 35338243 DOI: 10.1038/s10038-022-01032-1 |
0.336 |
|
| 2021 |
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, et al. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine. 27: 2165-2175. PMID 34887573 DOI: 10.1038/s41591-021-01572-7 |
0.33 |
|
| 2020 |
Dong W, Jin SC, Allocco A, Zeng X, Sheth AH, Panchagnula S, Castonguay A, Lorenzo LÉ, Islam B, Brindle G, Bachand K, Hu J, Sularz A, Gaillard J, Choi J, et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. Iscience. 23: 101552. PMID 33083721 DOI: 10.1016/J.Isci.2020.101552 |
0.309 |
|
| 2020 |
Caglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. Journal of Human Genetics. PMID 32764695 DOI: 10.1038/S10038-020-0820-0 |
0.451 |
|
| 2020 |
Karschnia P, Erson-Omay EZ, Huttner AJ, Kaulen LD, Duran D, Fulbright RK, Günel M, Baehring JM. Genomic alterations in Turcot syndrome: Insights from whole exome sequencing. Journal of the Neurological Sciences. 417: 117056. PMID 32739502 DOI: 10.1016/J.Jns.2020.117056 |
0.311 |
|
| 2020 |
Youngblood MW, Günel M. Molecular genetics of meningiomas. Handbook of Clinical Neurology. 169: 101-119. PMID 32553282 DOI: 10.1016/B978-0-12-804280-9.00006-8 |
0.353 |
|
| 2019 |
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, ... ... Gunel M, et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathologica. PMID 31820119 DOI: 10.1007/S00401-019-02109-6 |
0.438 |
|
| 2019 |
Youngblood MW, Duran D, Montejo JD, Li C, Omay SB, Özduman K, Sheth AH, Zhao AY, Tyrtova E, Miyagishima DF, Fomchenko EI, Hong CS, Clark VE, Riche M, Peyre M, et al. Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas. Journal of Neurosurgery. 1-10. PMID 31653806 DOI: 10.3171/2019.8.Jns191266 |
0.303 |
|
| 2019 |
Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in . Frontiers in Cellular Neuroscience. 13: 425. PMID 31616254 DOI: 10.3389/Fncel.2019.00425 |
0.376 |
|
| 2019 |
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7 |
0.387 |
|
| 2019 |
Youngblood MW, Sheth A, Zhao A, Montejo JD, Duran D, Li C, Tyrtova E, Ozduman K, Miyagishima DF, Boetto J, Peyre M, Omay SB, Kalamarides M, Omay ZE, Gunel M, et al. Outcome Analysis Among Meningioma Genomic Subgroups Identifies Decreased Recurrence Free Survival in PI3K Activated Tumors Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_646 |
0.378 |
|
| 2019 |
Kundishora A, Zeng X, Duran D, Allocco AA, Choi J, Jin SC, Conine SB, Nelson-Williams C, Gaillard J, Furey CG, Timberlake AT, Mansuri M, Sorscher M, Klein J, Lu Q, ... ... Gunel M, et al. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_341 |
0.451 |
|
| 2019 |
Barak T, Sencicek AGE, Miyagishima DF, Henegariu O, Gorur KM, Bilguvar K, Gunel M. Identification of Peptidyl-Prolyl Cis-Trans Isomerase-Like 4 as a Disease Causing Gene in Intracranial Aneurysms and its Role in Vertebrate CNS Specific Angiogenesis Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_303 |
0.39 |
|
| 2019 |
Youngblood M, Sheth A, Zhao A, Montejo J, Duran D, Li C, Tyrtova E, Özduman K, Peyre M, Boetto J, Omay S, Kalamarides M, Zeynep Erson-Omay E, Günel M, Moliterno J. GENE-56. MENINGIOMA GENOMIC SUBGROUP AS A PREDICTOR OF POST-OPERATIVE PATIENT OUTCOMES: IMPLICATIONS FOR TREATMENT AND FOLLOW-UP Neuro-Oncology. 21: vi109-vi110. DOI: 10.1093/Neuonc/Noz175.458 |
0.318 |
|
| 2018 |
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, ... ... Gunel M, et al. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron. PMID 30578106 DOI: 10.1016/J.Neuron.2018.11.041 |
0.453 |
|
| 2018 |
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, ... ... Gunel M, et al. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive erebellar, cular, cranioacial and enital features (COFG syndrome). Journal of Medical Genetics. PMID 30487245 DOI: 10.1136/Jmedgenet-2018-105623 |
0.321 |
|
| 2018 |
Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, ... ... Gunel M, et al. Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology. PMID 30178464 DOI: 10.1002/Ana.25327 |
0.328 |
|
| 2018 |
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, ... ... Gunel M, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics. PMID 30013181 DOI: 10.1038/S41588-018-0166-0 |
0.34 |
|
| 2018 |
Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, et al. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron. PMID 29983323 DOI: 10.1016/J.Neuron.2018.06.019 |
0.35 |
|
| 2018 |
Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT. Novel association of germline de novo MYH9 mutation with congenital hemangioma. Cold Spring Harbor Molecular Case Studies. PMID 29903892 DOI: 10.1101/mcs.a002998 |
0.301 |
|
| 2018 |
Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Molecular Genetics & Genomic Medicine. 6: 230-248. PMID 29397575 DOI: 10.1002/Mgg3.364 |
0.408 |
|
| 2018 |
Duran D, Karschnia P, Gaillard JR, Karimy JK, Youngblood MW, DiLuna ML, Matouk CC, Aagaard-Kienitz B, Smith ER, Orbach DB, Rodesch G, Berenstein A, Gunel M, Kahle KT. Human genetics and molecular mechanisms of vein of Galen malformation. Journal of Neurosurgery. Pediatrics. 1-8. PMID 29350590 DOI: 10.3171/2017.9.Peds17365 |
0.465 |
|
| 2018 |
Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. American Journal of Medical Genetics. Part A. 176: 421-425. PMID 29226631 DOI: 10.1002/Ajmg.A.38558 |
0.393 |
|
| 2018 |
Furey CG, Jin SC, Timberlake AT, Choi J, Zeng X, Nelson-Williams C, Mansuri M, Lu Q, Duran D, Panchagnula S, Alloco A, Karimy JK, Gaillard J, Khanna A, Butler W, ... ... Gunel M, et al. 125 De Novo Mutations in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus Neurosurgery. 65: 88-89. DOI: 10.1093/Neuros/Nyy303.125 |
0.356 |
|
| 2018 |
Karschnia P, Erson-Omay EZ, Huttner AJ, Fulbright RK, Günel M, Baehring JM. P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome Neuro-Oncology. 20: iii293-iii293. DOI: 10.1093/Neuonc/Noy139.294 |
0.316 |
|
| 2017 |
Chow RD, Guzman CD, Wang G, Schmidt F, Youngblood MW, Ye L, Errami Y, Dong MB, Martinez MA, Zhang S, Renauer P, Bilguvar K, Gunel M, Sharp PA, Zhang F, et al. AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma. Nature Neuroscience. PMID 28805815 DOI: 10.1038/Nn.4620 |
0.404 |
|
| 2017 |
Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M. gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Cold Spring Harbor Molecular Case Studies. 3. PMID 28630369 DOI: 10.1101/mcs.a001859 |
0.321 |
|
| 2017 |
Akyerli CB, Yüksel Ş, Can Ö, Erson-Omay EZ, Oktay Y, Coşgun E, Ülgen E, Erdemgil Y, Sav A, von Deimling A, Günel M, Yakıcıer MC, Pamir MN, Özduman K. Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas. Journal of Neurosurgery. 1-13. PMID 28621624 DOI: 10.3171/2016.11.Jns16973 |
0.375 |
|
| 2017 |
Vilarinho S, Erson-Omay Z, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH. Exome Analysis of the Evolutionary Path of Hepatocellular Adenoma-Carcinoma Transition, Vascular Invasion and Brain Dissemination. Journal of Hepatology. PMID 28323122 DOI: 10.1016/J.Jhep.2017.03.009 |
0.314 |
|
| 2017 |
Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A. Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Scientific Reports. 7: 43708. PMID 28272472 DOI: 10.1038/Srep43708 |
0.374 |
|
| 2017 |
Harmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, et al. Integrated genomic analyses of de novo pathways underlying atypical meningiomas. Nature Communications. 8: 14433. PMID 28195122 DOI: 10.1038/Ncomms14433 |
0.373 |
|
| 2017 |
Sulkowski PL, Corso CD, Robinson ND, Scanlon SE, Purshouse KR, Bai H, Liu Y, Sundaram RK, Hegan DC, Fons NR, Breuer GA, Song Y, Mishra-Gorur K, De Feyter HM, de Graaf RA, et al. 2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity. Science Translational Medicine. 9. PMID 28148839 DOI: 10.1126/Scitranslmed.Aal2463 |
0.358 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, ... ... Gunel M, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.4 |
|
| 2017 |
Sulkowski P, Corso C, Robinson N, Scanlon S, Purshouse K, Bai H, Liu Y, Sundaram R, Hegan D, Fons N, Breuer G, Song Y, Mishra K, Feyter HD, Graaf Rd, ... ... Gunel M, et al. Abstract LB-290: Oncometabolites induce a BRCAness state that can be exploited by PARP inhibitors Cancer Research. 77. DOI: 10.1158/1538-7445.Am2017-Lb-290 |
0.343 |
|
| 2017 |
Furey CG, Choi J, Duran D, Timberlake AT, Zeng X, Nelson-Williams C, Khanna A, Iskandar B, Butler W, Heuer GG, Bayri Y, Sahin Y, Limbrick DD, Warf BC, Duncan CC, ... ... Gunel M, et al. 102 Exome Sequencing Identifies Novel Molecular Determinants of Human Congenital Hydrocephalus Neurosurgery. 64: 220-220. DOI: 10.1093/Neuros/Nyx417.102 |
0.36 |
|
| 2016 |
Duran D, Jin SC, DeSpenza T, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT. Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation. Human Genome Variation. 3: 16042. PMID 28018608 DOI: 10.1038/Hgv.2016.42 |
0.445 |
|
| 2016 |
Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, ... ... Gunel M, et al. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 167: 1481-1494.e18. PMID 27912058 DOI: 10.1016/J.Cell.2016.11.013 |
0.355 |
|
| 2016 |
Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, et al. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. American Journal of Human Genetics. PMID 27773428 DOI: 10.1016/J.Ajhg.2016.09.007 |
0.407 |
|
| 2016 |
Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. Journal of Neurosurgery. 1-5. PMID 27611203 DOI: 10.3171/2016.6.Jns16665 |
0.377 |
|
| 2016 |
Clark VE, Harmancı AS, Bai H, Youngblood MW, Lee TI, Baranoski JF, Ercan-Sencicek AG, Abraham BJ, Weintraub AS, Hnisz D, Simon M, Krischek B, Erson-Omay EZ, Henegariu O, Carrión-Grant G, et al. Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas. Nature Genetics. PMID 27548314 DOI: 10.1038/Ng.3651 |
0.414 |
|
| 2016 |
Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, ... ... Gunel M, et al. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal of Human Genetics. PMID 27453578 DOI: 10.1016/J.Ajhg.2016.07.004 |
0.43 |
|
| 2016 |
Oktay Y, Ülgen E, Can Ö, Akyerli CB, Yüksel Ş, Erdemgil Y, Durası IM, Henegariu OI, Nanni EP, Selevsek N, Grossmann J, Erson-Omay EZ, Bai H, Gupta M, Lee W, et al. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation. Scientific Reports. 6: 27569. PMID 27282637 DOI: 10.1038/Srep27569 |
0.375 |
|
| 2016 |
Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension. Hepatology (Baltimore, Md.). PMID 26874653 DOI: 10.1002/Hep.28499 |
0.393 |
|
| 2016 |
Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence? American Journal of Medical Genetics. Part A. 170: 1187-95. PMID 26749367 DOI: 10.1002/Ajmg.A.37543 |
0.335 |
|
| 2016 |
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal of Human Genetics. PMID 26740239 DOI: 10.1038/Jhg.2015.160 |
0.445 |
|
| 2016 |
Caglayan AO, Omay ZEE, Koksal Y, Coskun S, Unal E, Per H, Bilguvar K, Yasuno K, Ostergaard JR, Gunel M. Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies Journal of Biotechnology. 231: S12. DOI: 10.1016/J.Jbiotec.2016.05.067 |
0.31 |
|
| 2015 |
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228. PMID 29654772 DOI: 10.1016/J.Neuron.2014.12.046 |
0.375 |
|
| 2015 |
Bai H, Harmancı AS, Erson-Omay EZ, Li J, Coşkun S, Simon M, Krischek B, Özduman K, Omay SB, Sorensen EA, Turcan Ş, Bakırcığlu M, Carrión-Grant G, Murray PB, Clark VE, et al. Integrated genomic characterization of IDH1-mutant glioma malignant progression. Nature Genetics. PMID 26618343 DOI: 10.1038/Ng.3457 |
0.358 |
|
| 2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Gunel M, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 |
0.409 |
|
| 2015 |
Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, et al. Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes, Chromosomes & Cancer. 54: 542-54. PMID 26032282 DOI: 10.1002/Gcc.22267 |
0.447 |
|
| 2015 |
Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, ... ... Gunel M, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13. PMID 26005868 DOI: 10.1038/Ng.3311 |
0.339 |
|
| 2015 |
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European Journal of Human Genetics : Ejhg. PMID 25920557 DOI: 10.1038/Ejhg.2015.29 |
0.45 |
|
| 2015 |
He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH. A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 25: 836-44. PMID 25900930 DOI: 10.1093/Glycob/Cwv024 |
0.34 |
|
| 2015 |
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, ... ... Gunel M, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34. PMID 25848753 DOI: 10.1038/Ng.3256 |
0.432 |
|
| 2015 |
Erson-Omay EZ, Ça?layan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmanc? A, Clark V, Carrión-Grant G, Baranoski J, Ça?lar C, Barak T, Co?kun S, et al. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro-Oncology. PMID 25740784 DOI: 10.1093/Neuonc/Nov027 |
0.345 |
|
| 2015 |
Özo?uz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken AG, Sen NE, Kavak P, Sayg? C, Sapp PC, Keagle P, Parman Y, et al. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of Aging. 36: 1764.e9-18. PMID 25681989 DOI: 10.1016/J.Neurobiolaging.2014.12.032 |
0.384 |
|
| 2015 |
Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. Pediatric Radiology. 45: 771-6. PMID 25256152 DOI: 10.1007/S00247-014-3159-X |
0.345 |
|
| 2015 |
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal of Medical Genetics. 58: 39-43. PMID 25220016 DOI: 10.1016/J.Ejmg.2014.08.008 |
0.385 |
|
| 2015 |
Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, Marcondes de Souza J, Lee C, et al. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 188-96. PMID 25122144 DOI: 10.1038/Gim.2014.97 |
0.409 |
|
| 2015 |
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, ... ... Gunel M, et al. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal of Human Genetics : Ejhg. 23: 165-72. PMID 24781755 DOI: 10.1038/Ejhg.2014.82 |
0.617 |
|
| 2015 |
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, et al. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.6 |
0.463 |
|
| 2015 |
Erson-Omay EZ, Schultz N, Omay SB, Ozduman K, Harmanci AS, Clark V, Baranoski J, Gunel JM, Pamir MN, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Gunel M. GENO-15IDENTIFICATION AND GENOMIC ANALYSIS OF HYPER-MUTATED AND ULTRA-MUTATED GBMS Neuro-Oncology. 17: v94.3-v94. DOI: 10.1093/Neuonc/Nov215.15 |
0.427 |
|
| 2014 |
Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/J.Neuron.2014.12.014 |
0.42 |
|
| 2014 |
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, ... ... Gunel M, et al. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatric Neurology. 51: 806-813.e8. PMID 25456301 DOI: 10.1016/J.Pediatrneurol.2014.08.025 |
0.398 |
|
| 2014 |
Gündüz A, Eken AG, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Ba?ak AN, Ertan S. FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family. Parkinsonism & Related Disorders. 20: 1253-6. PMID 25169713 DOI: 10.1016/J.Parkreldis.2014.07.016 |
0.424 |
|
| 2014 |
Vilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno K, Bilguvar K, Günel M. Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations Journal of Hepatology. 61: 1178-1183. PMID 25016225 DOI: 10.1016/J.Jhep.2014.07.003 |
0.38 |
|
| 2014 |
Tüysüz B, Yılmaz S, Kasapçopur Ö, Erener-Ercan T, Ceyhun E, Bilguvar K, Günel M. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. Rheumatology International. 34: 1539-44. PMID 24816859 DOI: 10.1007/S00296-014-3037-8 |
0.339 |
|
| 2014 |
Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, ... ... Gunel M, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 157: 651-63. PMID 24766810 DOI: 10.1016/J.Cell.2014.03.049 |
0.379 |
|
| 2014 |
Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Sahin S, Çomu S, Günel M. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. American Journal of Medical Genetics. Part A. 164: 1677-85. PMID 24700674 DOI: 10.1002/Ajmg.A.36514 |
0.45 |
|
| 2014 |
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... Gunel M, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53 |
0.324 |
|
| 2014 |
Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, von Und Zu Fraunberg M, Helisalmi S, Hiltunen M, Lehto H, Laakso A, Kivisaari R, Koivisto T, Ronkainen A, ... ... Gunel M, et al. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. Plos Genetics. 10: e1004134. PMID 24497844 DOI: 10.1371/Journal.Pgen.1004134 |
0.32 |
|
| 2014 |
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, ... ... Gunel M, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11. PMID 24482476 DOI: 10.1126/Science.1247363 |
0.383 |
|
| 2014 |
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, ... ... Gunel M, et al. Mutations in CSPP1 lead to classical Joubert syndrome. American Journal of Human Genetics. 94: 80-6. PMID 24360807 DOI: 10.1016/J.Ajhg.2013.11.015 |
0.417 |
|
| 2013 |
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. American Journal of Medical Genetics. Part A. 161: 1300-8. PMID 23633440 DOI: 10.1002/Ajmg.A.35906 |
0.355 |
|
| 2013 |
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. American Journal of Human Genetics. 92: 468-74. PMID 23472759 DOI: 10.1016/J.Ajhg.2013.02.005 |
0.374 |
|
| 2013 |
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, ... ... Gunel M, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 110: 3489-94. PMID 23359680 DOI: 10.1073/Pnas.1222732110 |
0.364 |
|
| 2013 |
Caglayan A, Per H, Akgumus G, Gumus H, Baranoski J, Canpolat M, Calik M, Yikilmaz A, Bilguvar K, Kumandas S, Gunel M. Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum Clinical Genetics. 84: 394-395. PMID 23320496 DOI: 10.1111/Cge.12088 |
0.334 |
|
| 2013 |
Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European Journal of Human Genetics : Ejhg. 21: 281-5. PMID 22892528 DOI: 10.1038/Ejhg.2012.170 |
0.43 |
|
| 2013 |
Per H, Okay Caglayan A, Gumus H, Bilguvar K, Canpolat M, Kumandas S, Gunel M. P238 – 1858 New mutations detected in primer microcephaly genes by whole-exome sequencing European Journal of Paediatric Neurology. 17: S118-S119. DOI: 10.1016/S1090-3798(13)70417-3 |
0.378 |
|
| 2012 |
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/Ajmg.A.35470 |
0.333 |
|
| 2012 |
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485: 237-41. PMID 22495306 DOI: 10.1038/Nature10945 |
0.645 |
|
| 2012 |
Gaál EI, Salo P, Kristiansson K, Rehnström K, Kettunen J, Sarin AP, Niemelä M, Jula A, Raitakari OT, Lehtimäki T, Eriksson JG, Widen E, Günel M, Kurki M, von und Zu Fraunberg M, et al. Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure. Plos Genetics. 8: e1002563. PMID 22438818 DOI: 10.1371/Journal.Pgen.1002563 |
0.333 |
|
| 2011 |
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research. 21: 1995-2003. PMID 21885617 DOI: 10.1101/Gr.126110.111 |
0.41 |
|
| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.603 |
|
| 2011 |
Barak T, Kwan KY, Louvi A, Demirbilek V, Sayg? S, Tüysüz B, Choi M, Boyac? H, Doerschner K, Zhu Y, Kaymakçalan H, Y?lmaz S, Bak?rc?o?lu M, Ca?layan AO, Oztürk AK, et al. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics. 43: 590-4. PMID 21572413 DOI: 10.1038/Ng.836 |
0.425 |
|
| 2011 |
Tanriover G, Sozen B, Gunel M, Demir N. CCM2 expression during prenatal development and adult human neocortex. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 29: 509-14. PMID 21569831 DOI: 10.1016/J.Ijdevneu.2011.04.006 |
0.334 |
|
| 2011 |
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, ... ... Gunel M, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. American Journal of Human Genetics. 88: 523-35. PMID 21529752 DOI: 10.1016/J.Ajhg.2011.03.019 |
0.392 |
|
| 2011 |
Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, ... ... Gunel M, et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nature Genetics. 43: 321-7. PMID 21399633 DOI: 10.1038/Ng.787 |
0.322 |
|
| 2011 |
Louvi A, Chen L, Two AM, Zhang H, Min W, Günel M. Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. Proceedings of the National Academy of Sciences of the United States of America. 108: 3737-42. PMID 21321212 DOI: 10.1073/Pnas.1012617108 |
0.346 |
|
| 2010 |
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizo?lu D, Tüysüz B, Ca?layan AO, Gökben S, Kaymakçalan H, Barak T, Bakircio?lu M, Yasuno K, Ho W, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 467: 207-10. PMID 20729831 DOI: 10.1038/Nature09327 |
0.646 |
|
| 2010 |
Bayrakli F, Bilguvar K, Ceyhan D, Ercan-Sencicek AG, Cankaya T, Bayrakli S, Guney I, Mane SM, State MW, Gunel M. Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clinical Genetics. 77: 499-502. PMID 20447154 DOI: 10.1111/J.1399-0004.2010.01411.X |
0.575 |
|
| 2010 |
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, ... ... Gunel M, et al. L-histidine decarboxylase and Tourette's syndrome. The New England Journal of Medicine. 362: 1901-8. PMID 20445167 DOI: 10.1056/Nejmoa0907006 |
0.603 |
|
| 2010 |
He Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W. Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. Science Signaling. 3: ra26. PMID 20371769 DOI: 10.1126/Scisignal.2000722 |
0.308 |
|
| 2010 |
Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. American Journal of Medical Genetics. Part A. 152: 1039-42. PMID 20358624 DOI: 10.1002/Ajmg.A.33312 |
0.521 |
|
| 2010 |
Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M. Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). Journal of Child Neurology. 25: 1265-8. PMID 20110217 DOI: 10.1177/0883073809357241 |
0.445 |
|
| 2010 |
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics. 11: 319-25. PMID 20082205 DOI: 10.1007/S10048-009-0232-Y |
0.635 |
|
| 2010 |
Nixon AM, Gunel M, Sumpio BE. The critical role of hemodynamics in the development of cerebral vascular disease: A review Journal of Neurosurgery. 112: 1240-1253. PMID 19943737 DOI: 10.3171/2009.10.Jns09759 |
0.306 |
|
| 2009 |
DiLuna ML, Bilguvar K, Louvi A, Bizzarro M, Bayrakli F, Bayri Y, Bydon M, Schneider K, Duncan CC, State M, Lifton RP, Ment LR, Gunel M. Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants: 956. Neurosurgery. 65: 419. PMID 28173201 DOI: 10.1227/01.Neu.0000358727.92507.Ea |
0.566 |
|
| 2009 |
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal of Medical Genetics. Part A. 149: 2569-72. PMID 19876906 DOI: 10.1002/Ajmg.A.33063 |
0.536 |
|
| 2009 |
Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR. COL4A1 mutation in preterm intraventricular hemorrhage. The Journal of Pediatrics. 155: 743-5. PMID 19840616 DOI: 10.1016/J.Jpeds.2009.04.014 |
0.409 |
|
| 2009 |
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 16: 1610-4. PMID 19793656 DOI: 10.1016/J.Jocn.2009.03.022 |
0.606 |
|
| 2009 |
Chen L, Tanriover G, Yano H, Friedlander R, Louvi A, Gunel M. Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. Stroke. 40: 1474-81. PMID 19246713 DOI: 10.1161/Strokeaha.108.527135 |
0.413 |
|
| 2009 |
Gunel M. Genome-Wide Association Study Identifies Intracranial Aneurysm Genes: 915 Neurosurgery. 65: 405-406. DOI: 10.1227/01.Neu.0000358686.33304.6C |
0.321 |
|
| 2008 |
Tanriover G, Boylan AJ, Diluna ML, Pricola KL, Louvi A, Gunel M. PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. Neurosurgery. 62: 930-8; discussion 93. PMID 18496199 DOI: 10.1227/01.Neu.0000318179.02912.Ca |
0.417 |
|
| 2008 |
Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 9: 119-25. PMID 18322713 DOI: 10.1007/S10048-008-0121-9 |
0.633 |
|
| 2008 |
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, ... ... Gunel M, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics. 82: 165-73. PMID 18179895 DOI: 10.1016/J.Ajhg.2007.09.017 |
0.63 |
|
| 2007 |
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly: Laboratory investigation Journal of Neurosurgery. 107: 495-499. PMID 18154020 DOI: 10.3171/Ped-07/12/495 |
0.638 |
|
| 2007 |
Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Human Mutation. 28: 1236-40. PMID 17676595 DOI: 10.1002/Humu.20592 |
0.631 |
|
| 2007 |
Guzel A, Tatli M, Bilguvar K, DiLuna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts American Journal of Medical Genetics, Part A. 143: 672-677. PMID 17343267 DOI: 10.1002/Ajmg.A.31640 |
0.38 |
|
| 2007 |
Diluna ML, Amankulor NM, Johnson MH, Gunel M. Cerebrovascular disease associated with Aarskog-Scott syndrome. Neuroradiology. 49: 457-61. PMID 17294235 DOI: 10.1007/S00234-007-0209-1 |
0.325 |
|
| 2007 |
Nahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M. Genetics of intracranial aneurysms. Neurosurgery. 60: 213-25; discussion 2. PMID 17290171 DOI: 10.1227/01.Neu.0000249270.18698.Bb |
0.364 |
|
| 2007 |
Bilguvar K, Bayrakli F, Bayri Y, Ozturk AK, DiLuna ML, Bydon M, Gunel M. Linkage and Copy Number Variation Analysis of Large Families and Sibling Pairs Demonstrates Locus Heterogeneity for Familial Intracranial Aneurysms Neurosurgery. 61: 198-198. DOI: 10.1227/01.Neu.0000279890.51914.Ec |
0.304 |
|
| 2006 |
Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31. Stroke; a Journal of Cerebral Circulation. 37: 1021-7. PMID 16497978 DOI: 10.1161/01.Str.0000206153.92675.B9 |
0.345 |
|
| 2006 |
Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 expression parallels that of CCM1. Stroke; a Journal of Cerebral Circulation. 37: 518-23. PMID 16373645 DOI: 10.1161/01.Str.0000198835.49387.25 |
0.386 |
|
| 2006 |
Bilguvar K, Ozturk AK, Gunel M, Guclu B. Response to letter by Stahl and Felbor [16] Stroke. 37: 2215-2216. DOI: 10.1161/01.Str.0000237183.62327.C5 |
0.408 |
|
| 2005 |
Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M. Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 57: 1008-13. PMID 16284570 DOI: 10.1227/01.Neu.0000180811.56157.E1 |
0.439 |
|
| 2005 |
Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M. Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. Stroke; a Journal of Cerebral Circulation. 36: 2479-80. PMID 16239636 DOI: 10.1161/01.Str.0000183616.99139.D3 |
0.31 |
|
| 2005 |
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (New York, N.Y.). 310: 317-20. PMID 16224024 DOI: 10.1126/Science.1116502 |
0.61 |
|
| 2005 |
Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. American Journal of Human Genetics. 76: 172-9. PMID 15540160 DOI: 10.1086/426953 |
0.599 |
|
| 2004 |
Guzeloglu-Kayisli O, Kayisli UA, Amankulor NM, Voorhees JR, Gokce O, DiLuna ML, Laurans MS, Luleci G, Gunel M. Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. Journal of Neurosurgery. 100: 481-7. PMID 15287459 DOI: 10.3171/Ped.2004.100.5.0481 |
0.343 |
|
| 2004 |
Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Gunel M, Hodge CJ, Takagi Y, Hashimoto N, Connolly ES. KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex Neurosurgery. 54: 943-949. PMID 15046662 DOI: 10.1227/01.Neu.0000114512.59624.A5 |
0.36 |
|
| 2003 |
Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, ... ... Gunel M, et al. Mutational analysis of 206 families with cavernous malformations. Journal of Neurosurgery. 99: 38-43. PMID 12854741 DOI: 10.3171/Jns.2003.99.1.0038 |
0.443 |
|
| 2003 |
State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, et al. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proceedings of the National Academy of Sciences of the United States of America. 100: 4684-9. PMID 12682296 DOI: 10.1073/Pnas.0730775100 |
0.597 |
|
| 2002 |
Gunel M, Laurans MSH, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein Proceedings of the National Academy of Sciences of the United States of America. 99: 10677-10682. PMID 12140362 DOI: 10.1073/Pnas.122354499 |
0.353 |
|
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