Kaya Bilguvar, MD, PhD

• Abha Gupta
• Adife Gulhan Ercan-Sencicek
• Angeliki Louvi
• Anita Huttner
• Bony De Kumar
• Carlos R Oliveira
• Chantal Vogels
• Charles Duncan
• Christopher Castaldi
• Engin Deniz
• Francesc Lopez-Giraldez
• Hal Blumenfeld
• Hongyu Zhao
• James Knight
• James Leckman
• Jeffery Kocsis
• Jeffrey Townsend
• John Persing
• Joseph Piepmeier
• Katsuhito Yasuno
• Ketu Mishra-Gorur
• Lingeng Lu
• Lisa Calvocoressi
• Marina Picciotto
• Martina Brueckner
• Matthew Bizzarro
• Matthew State
• Michael DiLuna
• Murat Gunel
• Nathan Grubaugh
• Nicole J. Lake
• Octavian Henegariu
• Ognen Petroff
• Richard Bronen
• Sacit Bulent Omay
• Shrikant Mane
• Sidi Chen
• Silvia Vilarinho
• Stephen Strittmatter
• Stephen Waxman
• Suleyman Coskun
• Tanyeri Barak
• Thomas Fernandez
• Weizhen Ji
• Zeynep Erson Omay

Cerebrovascular Disorders; Migraine Disorders; Schizophrenia, Childhood; Neurodegenerative Diseases; Genomics; Malformations of Cortical Development; Circulating Tumor DNA; Human Genetics; Genomic Medicine; Multiomics

• Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomasYoungblood M, Erson-Omay Z, Li C, Najem H, Coșkun S, Tyrtova E, Montejo J, Miyagishima D, Barak T, Nishimura S, Harmancı A, Clark V, Duran D, Huttner A, Avşar T, Bayri Y, Schramm J, Boetto J, Peyre M, Riche M, Goldbrunner R, Amankulor N, Louvi A, Bilgüvar K, Pamir M, Özduman K, Kilic T, Knight J, Simon M, Horbinski C, Kalamarides M, Timmer M, Heimberger A, Mishra-Gorur K, Moliterno J, Yasuno K, Günel M. Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas. Nature Communications 2023, 14: 6279. PMID: 37805627, PMCID: PMC10560290, DOI: 10.1038/s41467-023-41926-y.
• TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsAlmousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, Efthymiou S, Heim J, Cornejo P, Zaki M, Anwar N, Maqbool S, Rahman F, Neilson D, Vemuri A, Jin S, Yang X, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel A, Tomoum H, Shata M, Hashem M, Toosi M, Karimiani E, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent J, Innes A, Dursun A, Özgül R, Akar H, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat L, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer M. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain 2023, 147: 311-324. PMID: 37713627, PMCID: PMC10766242, DOI: 10.1093/brain/awad301.
• Toward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome SequencingErdogan O, Özkaya Ş, Erzik C, Bilguvar K, Arga K, Bayraklı F. Toward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome Sequencing. OMICS A Journal Of Integrative Biology 2023, 27: 426-433. PMID: 37669106, DOI: 10.1089/omi.2023.0117.
• Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart diseaseMishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.
• 169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal MalformationMekbib K, Zhao S, Nelson-Williams C, Prendergast A, Zeng X, Rolle M, Shohfi J, Smith H, Ocken J, Moyer Q, Piwowarczyk P, Allington G, Dong W, van der Ent M, Chen D, Li B, Duran D, Mane S, Walcott B, Stapleton C, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith E, Orbach D, Berenstein A, Bilguvar K, Zhao H, Erson-Omay Z, King P, Huttner A, Lifton R, Boggon T, Nicoli S, Jin S, Kahle K. 169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation. Neurosurgery 2023, 69: 22-22. DOI: 10.1227/neu.0000000000002375_169.
• Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in childrenLee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Bozdemir S, Bayhan G, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna J, Jaffré F, Hoffmann H, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias A, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus A, Rosain J, Peel J, Chan Y, Morin M, Pino-Ramirez R, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego M, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss S, Bonnet D, Duval X, Pan-Hammarström Q, Planas A, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard C, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, de Diego R, Rodriguez-Gallego C, Su H, Lifton R, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice C, Silverman R, Zhang S, Casanova J, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, Gérardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefèvre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Christelle K, Nicolas L, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, Abel L, Abolhassani H, Aguilera-Albesa S, Aiuti A, Akcan O, Akcay N, Alkan G, Alkhater S, Allende L, Alper Y, Amenzoui N, Anderson M, Arkin L, Aubart M, Avramenko I, Aydemir Ş, Aydin Z, Aytekin C, Aytekin G, Aytekin S, Bando S, Beland K, Belkaya S, Biggs C, Aburto A, Blanchard-Rohner G, Blázquez-Gamero D, Bloomfield M, Bogunovic D, Bondarenko A, Borghesi A, Bousfiha A, Boyarchuk O, Brodin P, Bryceson Y, Bucciol G, Calcaterra V, Casari G, Cavalcanti A, Celik J, Chrousos G, Colobran R, Condino-Neto A, Conti F, Cooper M, Coskuner T, Cyrus C, D’Auria E, Delafontaine S, Drolet B, Duramaz B, Zein L, Elnagdy M, Emiroglu M, Erdeniz E, Fabi M, Feldman H, Fellay J, Fencl F, Filippatos F, Freiss J, Fremuth J, Gagro A, Garcia-Solis B, Vergine G, González-Montelongo R, Gul Y, Gülhan B, Gultekin S, Gut M, Halwani R, Hammarström L, Hatipoğlu N, Heath J, Henrickson S, Hernandez-Brito E, Hoffman I, Hoste L, Hsieh E, Íñigo-Campos A, Itan Y, Jabandziev P, Kandemir B, Kanık-Yüksek S, Kapakli H, Karbuz A, Kasapcopur O, Kechiche R, Demirkol Y, Kilic O, Hansen S, Klocperk A, Lau Y, Lebl J, Lorenzo-Salazar J, Lucas C, Maglorius M, Marque L, Medina Y, Melián A, Mentis A, Pato M, Michos A, Milner J, Mogensen T, Muñoz-Barrera A, Nepesov S, Neves J, Ng A, Ng L, Novelli A, Novelli G, Oz F, Ocejo-Viñals J, Okada S, Orbak Z, Kilic A, Ouair H, Öz Ş, Özçelik T, Özkan E, Parlakay A, Pato C, Paz-Artal E, Pelham S, Pellier I, Philippot Q, Planas-Serra L, Plassart S, Pokorna P, Polat M, Poli C, Prando C, Renia L, Rivière J, Rodríguez-Palmero A, Roussel L, Rubio-Rodriguez L, Salifu M, Sasek L, Sasia L, Scherbina A, Schmitt E, Sediva A, Sevketoglu E, Slaba K, Slaby O, Sobh A, Solé-Violán J, Soler-Palacin P, De Somer L, Sözeri B, Spaan A, Stepanovskiy Y, Tangye S, Tanir G, Tatsi E, Thorball C, Torun S, Turvey S, Uddin M, Uyar E, Valencia-Ramos J, Van Den Rym A, Vatansev H, de Vera M, Vermeulen F, Vinh D, Volokha A, von Bernuth H, Wouters C, Yahşi A, Yarar V, Yesilbas O, Yıldız M, Zatz M, Zawadzki P, Zuccotti G, Zhang S, Casanova J. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children. Science 2023, 379: eabo3627. PMID: 36538032, PMCID: PMC10451000, DOI: 10.1126/science.abo3627.
• Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changesTuysuz B, Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman Y, Vural M, Bilguvar K. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Journal Of Medical Genetics 2022, 60: 819-826. PMID: 36543534, DOI: 10.1136/jmg-2022-108763.
• Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAMTuysuz B, Department of Pediatric Genetics I, Sencicek A, Ozer E, Goc N, Yalcinkaya C, Bilguvar K, Department of Neurosurgery P, Department of Neurology I. Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM. Turkish Archives Of Pediatrics 2022, 57: 521-525. PMID: 35950747, PMCID: PMC9524456, DOI: 10.5152/turkarchpediatr.2022.22070.
• Assessment of Clinical Effectiveness of BNT162b2 COVID-19 Vaccine in US AdolescentsOliveira CR, Niccolai LM, Sheikha H, Elmansy L, Kalinich CC, Grubaugh ND, Shapiro ED, Billig K, Breban M, Brito A, Earnest R, Fauver J, Koch T, Ott I, Petrone M, Vogels C, Pham K, Tikhonova I, Castaldi C, Mane S, Bilguvar K, De Kumar B, Ferguson D, Kerantzas N, Landry M, Peaper D, Schulz W. Assessment of Clinical Effectiveness of BNT162b2 COVID-19 Vaccine in US Adolescents. JAMA Network Open 2022, 5: e220935. PMID: 35238933, PMCID: PMC8895259, DOI: 10.1001/jamanetworkopen.2022.0935.
• Centers for Mendelian Genomics: A decade of facilitating gene discoveryBaxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA, Consortium C, Adams M, Aguet F, Akay G, Anderson P, Antonescu C, Arachchi H, Atik M, Austin-Tse C, Babb L, Bacus T, Bahrambeigi V, Balasubramanian S, Bayram Y, Beaudet A, Beck C, Belmont J, Below J, Bilguvar K, Boehm C, Boerwinkle E, Boone P, Bowne S, Brand H, Buckingham K, Byrne A, Calame D, Campbell I, Cao X, Carvalho C, Chander V, Chang J, Chao K, Chinn I, Clarke D, Collins R, Cummings B, Dardas Z, Dawood M, Delano K, DiTroia S, Doddapaneni H, Du H, Du R, Duan R, Eldomery M, Eng C, England E, Evangelista E, Everett S, Fatih J, Felsenfeld A, Francioli L, Frazar C, Fu J, Gamarra E, Gambin T, Gan W, Gandhi M, Ganesh V, Garimella K, Gauthier L, Giroux D, Gonzaga-Jauregui C, Goodrich J, Gordon W, Griffith S, Grochowski C, Gu S, Gudmundsson S, Hall S, Hansen A, Harel T, Harmanci A, Herman I, Hetrick K, Hijazi H, Horike-Pyne M, Hsu E, Hu J, Huang Y, Hurless J, Jahl S, Jarvik G, Jiang Y, Johanson E, Jolly A, Karaca E, Khayat M, Knight J, Kolar J, Kumar S, Lalani S, Laricchia K, Larkin K, Leal S, Lemire G, Lewis R, Li H, Ling H, Lipson R, Liu P, Lovgren A, López-Giráldez F, MacMillan M, Mangilog B, Mano S, Marafi D, Marosy B, Marshall J, Martin R, Marvin C, Mawhinney M, McGee S, McGoldrick D, Mehaffey M, Mekonnen B, Meng X, Mitani T, Miyake C, Mohr D, Morris S, Mullen T, Murdock D, Murugan M, Muzny D, Myers B, Neira J, Nguyen K, Nielsen P, Nudelman N, O’Heir E, O’Leary M, Ongaco C, Orange J, Osei-Owusu I, Paine I, Pais L, Paschall J, Patterson K, Pehlivan D, Pelle B, Penney S, de Acha Chavez J, Pierce-Hoffman E, Poli C, Punetha J, Radhakrishnan A, Richardson M, Rodrigues E, Roote G, Rosenfeld J, Ryke E, Sabo A, Sanchez A, Schrauwen I, Scott D, Sedlazeck F, Serrano J, Shaw C, Shelford T, Shively K, Singer-Berk M, Smith J, Snow H, Snyder G, Solomonson M, Son R, Song X, Stankiewicz P, Stephan T, Sutton V, Sveden A, Sánchez D, Tackett M, Talkowski M, Threlkeld M, Tiao G, Udler M, Vail L, Valivullah Z, Valkanas E, VanNoy G, Wang Q, Wang G, Wang L, Wangler M, Watts N, Weisburd B, Weiss J, Wheeler M, White J, Williamson C, Wilson M, Wiszniewski W, Withers M, Witmer D, Witzgall L, Wohler E, Wojcik M, Wong I, Wood J, Wu N, Xing J, Yang Y, Yi Q, Yuan B, Zeiger J, Zhang C, Zhang P, Zhang Y, Zhang X, Zhang Y, Zhang S, Zoghbi H, van den Veyver I, Rehm H, O’Donnell-Luria A. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics In Medicine 2022, 24: 784-797. PMID: 35148959, PMCID: PMC9119004, DOI: 10.1016/j.gim.2021.12.005.
• Implications of Selection Bias Due to Delayed Study Entry in Clinical Genomic StudiesBrown S, Lavery J, Shen R, Martin A, Kehl K, Sweeney S, Lepisto E, Rizvi H, McCarthy C, Schultz N, Warner J, Park B, Bedard P, Riely G, Schrag D, Panageas K, Sweeney S, Foti M, Khotskaya Y, Fiandalo M, Gross B, Schultz N, Mastrogiacomo B, Sarmardy M, Li M, Resnick A, Waanders A, Lilly J, Carvajal R, Rabadan R, Ingham M, Hsaio S, Abraham J, Brenton J, Rueda O, Caldas C, Valgañón M, Silva D, Boursnell C, Garcia R, Rodriguez E, Nimmervoll B, Cerami E, Ducar M, Kumari P, Lindeman N, MacConnaill L, Orechia J, Schrag D, Shivdasani P, Van Allen E, Johnson J, Jänne P, Lepisto E, Hassett M, Pimentel S, Sripakdeevong P, Janeway K, Johnson J, Meyerson M, Quinn D, Cushing O, Haigis K, Miller D, Kehl K, Gustav A, Tramontano A, Baquero S, Bell J, Green M, McCall S, Datto M, Calvo F, Andre F, Guillaume M, Dogan S, Ludovic L, Scoazec J, Ardenos M, Vassal G, Michels S, Velculescu V, Baras A, Gocke C, Brahmer J, Sawyers C, Solit D, Gardos S, Berger M, Ladanyi M, Riely G, Sirintrapun J, Panageas K, Caroline A, Thomas S, Zarski A, Zehir A, Iasonosa A, Philip J, Brown S, Kung A, Kundra R, Rudolph J, Lavery J, Rivzi H, Schwartz J, McCarthy C, Bhuiya M, Martin A, Chu C, DuBois R, van de Velde T, Meijer G, Horlings H, van Tinteren H, Lolkema M, Nijman L, Bierkens M, Hoeve J, Voest E, Hiemstra A, Sonke G, Craenmehr J, Hudecek J, Monkhorst K, Urba W, Bernard B, Piening B, Bifulco C, Tittel P, Cramer J, Guinney J, Yu T, Guo X, Acebedo A, Gold P, Bailey N, Kadri S, Segal J, Pankhuri W, Wang P, George S, Christine M, Van't Veer L, Talevich E, Wren A, Sweet-Cordero A, Turski M, Bedard P, KamelReid S, Lu Z, Pugh T, Siu L, Watt S, Leighl N, Yu C, Ahmed L, Krishna G, Virtaenen C, Chow H, Plagianakos D, Del Rossi S, Singaravelan N, Hakgor S, Qazi N, Nguyen A, Stickle N, Stricker T, Micheel C, Anderson I, Jones L, Wang L, Lovly C, LeNoue Newton M, Park B, Warner J, Fabbri D, Coco J, Ye C, Chaugai S, Mishra S, Yang Y, Wen L, Dienstmann R, Aguilar Izquierdo S, Viaplana Donato C, Mancuso F, Topaloglu U, Liu L, Guan M, Zhang W, Jin G, Knight J, D'Eletto M, Ormay E, Mane S, Bilguvar K, Zenta W, Dykas D. Implications of Selection Bias Due to Delayed Study Entry in Clinical Genomic Studies. JAMA Oncology 2022, 8: 287-291. PMID: 34734967, PMCID: PMC9190030, DOI: 10.1001/jamaoncol.2021.5153.
• Correlation Between Surrogate End Points and Overall Survival in a Multi-institutional Clinicogenomic Cohort of Patients With Non–Small Cell Lung or Colorectal CancerKehl K, Riely G, Lepisto E, Lavery J, Warner J, LeNoue-Newton M, Sweeney S, Rudolph J, Brown S, Yu C, Bedard P, Schrag D, Panageas K, Sweeney S, Foti M, Khotskaya Y, Fiandalo M, Gross B, Schultz N, Mastrogiacomo B, Sarmardy M, Li M, Resnick A, Waanders A, Lilly J, Carvajal R, Rabadan R, Ingham M, Hsaio S, Abraham J, Brenton J, Rueda O, Caldas C, Valgañón M, Silva D, Boursnell C, Garcia R, Rodriguez E, Nimmervoll B, Cerami E, Ducar M, Kumari P, Lindeman N, MacConnaill L, Orechia J, Schrag D, Shivdasani P, Van Allen E, Johnson J, Jänne P, Lepisto E, Hassett M, Pimentel S, Sripakdeevong P, Janeway K, Johnson J, Meyerson M, Quinn D, Cushing O, Haigis K, Miller D, Kehl K, Gustav A, Tramontano A, Baquero S, Bell J, Green M, McCall S, Datto M, Calvo F, Andre F, Guillaume M, Dogan S, Ludovic L, Scoazec J, Ardenos M, Vassal G, Michels S, Velculescu V, Baras A, Gocke C, Brahmer J, Sawyers C, Solit D, Gardos S, Berger M, Ladanyi M, Riely G, Sirintrapun J, Caroline A, Thomas S, Zarski A, Zehir A, Iasonosa A, Philip J, Brown S, Kung A, Kundra R, Rudolph J, Lavery J, Rivzi H, Schwartz J, McCarthy C, Bhuiya M, Martin A, Chu C, DuBois R, van de Velde T, Meijer G, Horlings H, van Tinteren H, Lolkema M, Nijman L, Bierkens M, Hoeve J, Voest E, Hiemstra A, Sonke G, Craenmehr J, Hudecek J, Monkhorst K, Urba W, Bernard B, Piening B, Bifulco C, Tittel P, Cramer J, Guinney J, Yu T, Guo X, Acebedo A, Gold P, Bailey N, Kadri S, Segal J, Pankhuri W, Wang P, George S, Christine M, Van't Veer L, Talevich E, Wren A, Sweet-Cordero A, Turski M, Bedard P, KamelReid S, Lu Z, Pugh T, Siu L, Watt S, Leighl N, Yu C, Ahmed L, Krishna G, Virtaenen C, Chow H, Plagianakos D, Del Rossi S, Singaravelan N, Hakgor S, Qazi N, Nguyen A, Stickle N, Stricker T, Micheel C, Anderson I, Jones L, Wang L, Lovly C, LeNoue Newton M, Park B, Warner J, Fabbri D, Coco J, Ye C, Chaugai S, Mishra S, Yang Y, Wen L, Dienstmann R, Aguilar Izquierdo S, Viaplana Donato C, Mancuso F, Topaloglu U, Liu L, Guan M, Zhang W, Jin G, Knight J, D'Eletto M, Ormay E, Mane S, Bilguvar K, Zenta W, Dykas D. Correlation Between Surrogate End Points and Overall Survival in a Multi-institutional Clinicogenomic Cohort of Patients With Non–Small Cell Lung or Colorectal Cancer. JAMA Network Open 2021, 4: e2117547. PMID: 34309669, PMCID: PMC8314138, DOI: 10.1001/jamanetworkopen.2021.17547.
• Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital HydrocephalusPanchagnula S, Jin S, Dong W, Kundishora A, Moreno-De-Luca A, Furey C, Allocco A, Walker R, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zen X, Sierant M, Knight J, Sullivan W, Phan D, DeSpenza T, Reeves B, Karimy J, Marlier A, Castaldi C, Tikhonova I, Li B, Peña; H, Broach J, Kabachelor E, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake A, Goto J, Mangano F, Johnston J, Butler W, Warf B, Smith E, Schiff S, Limbrick D, Heuer G, Jackson E, Iskandar B, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan C, Apuzzo M, DiLuna M, Hoffman E, Sestan N, Ment L, Alper S, Bilguvar K, Geschwind D, Günel M, Lifton R, Kahle K. Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus. Neurosurgery 2020, 67 DOI: 10.1093/neuros/nyaa447_572.
• PATH-39. ASSOCIATIONS OF GENOMIC SUBGROUP WITH RECURRENCE IN LOW-GRADE MENINGIOMASYoungblood M, Miyagishima D, Jin L, Gupte T, Li C, Duran D, Montejo J, Zhao A, Sheth A, Tyrtova E, Özduman K, Iacoangeli F, Peyre M, Boetto J, Pease M, Avşar T, Huttner A, Bilguvar K, Kilic T, Pamir M, Amankulor N, Kalamarides M, Erson-omay Z, Gunel M, Moliterno J. PATH-39. ASSOCIATIONS OF GENOMIC SUBGROUP WITH RECURRENCE IN LOW-GRADE MENINGIOMAS. Neuro-Oncology 2020, 22: ii172-ii173. PMCID: PMC7651600, DOI: 10.1093/neuonc/noaa215.720.
• 124 Poster Mutations and copy number alterations in diffuse gliomas are shaped by different mechanismsOzduman K, Ulgen E, Karacan S, Gerlevik U, Can O, Bilguvar K, Akyerli C, Yuksel S, Ersen-Danyeli A, Tihan T, Yakicier C, Sezerman O, Pamir M. 124 Poster Mutations and copy number alterations in diffuse gliomas are shaped by different mechanisms. European Journal Of Cancer 2020, 138: s32-s33. DOI: 10.1016/s0959-8049(20)31156-4.
• Mutations disrupting neuritogenesis genes confer risk for cerebral palsyJin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics 2020, 52: 1046-1056. PMID: 32989326, PMCID: PMC9148538, DOI: 10.1038/s41588-020-0695-1.
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 2020, 370: eabd4570. PMID: 32972995, PMCID: PMC7857407, DOI: 10.1126/science.abd4570.
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• Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen MalformationKundishora A, Zeng X, Duran D, Allocco A, Choi J, Jin S, Conine S, Nelson-Williams C, Gaillard J, Furey C, Timberlake A, Mansuri M, Sorscher M, Klein J, Lu Q, Montejo J, Vera A, Karimy J, Panchagnula S, Youngblood M, DiLuna M, Matouk C, Mane S, Alper S, Ducruet A, Zabramski J, Aagaard-Kienitz B, Rodesch G, Smith E, Orbach D, Berenstein A, Bilguvar K, Gunel M, Lifton R, Kahle K. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation. Neurosurgery 2019, 66: 310-341. DOI: 10.1093/neuros/nyz310_341.
• Identification of Peptidyl-Prolyl Cis-Trans Isomerase-Like 4 as a Disease Causing Gene in Intracranial Aneurysms and its Role in Vertebrate CNS Specific AngiogenesisBarak T, Sencicek A, Miyagishima D, Henegariu O, Gorur K, 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 2019, 66: 310-303. DOI: 10.1093/neuros/nyz310_303.
• Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosisTimberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A, Steinbacher D, Larysz D, Staffenberg D, Flores R, Rodriguez E, Boggon T, Persing J, Lifton R, Lifton RP, Gunel M, Mane S, Bilguvar K, Gerstein M, Loring E, Nelson-Williams C, Lopez F, Knight J. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15116-15121. PMID: 31292255, PMCID: PMC6660739, DOI: 10.1073/pnas.1902041116.
• Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen MalformationDuran 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, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron 2018, 101: 429-443.e4. PMID: 30578106, PMCID: PMC10292091, DOI: 10.1016/j.neuron.2018.11.041.
• Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia SyndromeGuemez‐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, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson‐Omay E, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas‐Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben‐Zeev B, Gunel M, Gleeson JG. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Annals Of Neurology 2018, 84: 638-647. PMID: 30178464, PMCID: PMC6510237, DOI: 10.1002/ana.25327.
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• Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationSchaffer 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, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics 2018, 50: 1093-1101. PMID: 30013181, PMCID: PMC6072555, DOI: 10.1038/s41588-018-0166-0.
• Correction: Author Correction: Integrated genomic analyses of de novo pathways underlying atypical meningiomasHarmancı 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, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M. Correction: Author Correction: Integrated genomic analyses of de novo pathways underlying atypical meningiomas. Nature Communications 2018, 9: 16215. PMID: 29676392, PMCID: PMC5919704, DOI: 10.1038/ncomms16215.
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• De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosisTimberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.
• AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastomaChow 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, Platt RJ, Chen S. AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma. Nature Neuroscience 2017, 20: 1329-1341. PMID: 28805815, PMCID: PMC5614841, DOI: 10.1038/nn.4620.
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• Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingLardelli 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, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics 2017, 49: 457-464. PMID: 28092684, PMCID: PMC5325768, DOI: 10.1038/ng.3762.
• Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum DisorderTărlungeanu 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, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 2016, 167: 1481-1494.e18. PMID: 27912058, PMCID: PMC5554935, DOI: 10.1016/j.cell.2016.11.013.
• Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJerber 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 A, Vajsar J, Bilgüvar K, Ogur G, Jamra R, Günel M, Gleeson JG. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. American Journal Of Human Genetics 2016, 99: 1181-1189. PMID: 27773428, PMCID: PMC5097947, DOI: 10.1016/j.ajhg.2016.09.007.
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• Recurrent somatic mutations in POLR2A define a distinct subset of meningiomasClark 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, Mishra-Gorur K, Durán D, Goldmann JE, Schramm J, Goldbrunner R, Piepmeier JM, Vortmeyer AO, Günel JM, Bilgüvar K, Yasuno K, Young RA, Günel M. Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas. Nature Genetics 2016, 48: 1253-1259. PMID: 27548314, PMCID: PMC5114141, DOI: 10.1038/ng.3651.
• Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studiesCaglayan A, Omay Z, Koksal Y, Coskun S, Unal E, Per H, Bilguvar K, Yasuno K, Ostergaard J, Gunel M. Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies. Journal Of Biotechnology 2016, 231: s12. DOI: 10.1016/j.jbiotec.2016.05.067.
• Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalyLi 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, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal Of Human Genetics 2016, 99: 501-510. PMID: 27453578, PMCID: PMC4974110, DOI: 10.1016/j.ajhg.2016.07.004.
• Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMadeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, Khashab H, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal Of Human Genetics 2016, 98: 1249-1255. PMID: 27236917, PMCID: PMC4908178, DOI: 10.1016/j.ajhg.2016.04.008.
• Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reportsBrownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal Of Medical Genetics Part A 2016, 170: 1165-1173. PMID: 26887912, PMCID: PMC4833544, DOI: 10.1002/ajmg.a.37595.
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• Integrated genomic characterization of IDH1-mutant glioma malignant progressionBai 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, Ercan-Sencicek AG, Knight J, Sencar L, Altınok S, Kaulen LD, Gülez B, Timmer M, Schramm J, Mishra-Gorur K, Henegariu O, Moliterno J, Louvi A, Chan TA, Tannheimer SL, Pamir MN, Vortmeyer AO, Bilguvar K, Yasuno K, Günel M. Integrated genomic characterization of IDH1-mutant glioma malignant progression. Nature Genetics 2015, 48: 59-66. PMID: 26618343, PMCID: PMC4829945, DOI: 10.1038/ng.3457.
• GENO-15IDENTIFICATION AND GENOMIC ANALYSIS OF HYPER-MUTATED AND ULTRA-MUTATED GBMSErson-Omay E, Schultz N, Omay S, Ozduman K, Harmanci A, Clark V, Baranoski J, Gunel J, Pamir M, Bilguvar K, Yasuno K, Vortmeyer A, Huttner A, Sander C, Gunel M. GENO-15IDENTIFICATION AND GENOMIC ANALYSIS OF HYPER-MUTATED AND ULTRA-MUTATED GBMS. Neuro-Oncology 2015, 17: v94-v94. PMCID: PMC4638807, DOI: 10.1093/neuonc/nov215.15.
• Mutation in GM2A Leads to a Progressive Chorea-dementia SyndromeSalih M, Seidahmed M, Khashab H, Hamad M, Bosley T, Burn S, Myers A, Landsverk M, Crotwell P, Bilguvar K, Mane S, Kruer M. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. DOI: 10.5334/tohm.246.
• Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shorteningStuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature Genetics 2015, 47: 512-517. PMID: 25848748, PMCID: PMC4414891, DOI: 10.1038/ng.3278.
• Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural ProgenitorsMishra-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 HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron 2014, 84: 1226-1239. PMID: 25521378, PMCID: PMC5024344, DOI: 10.1016/j.neuron.2014.12.014.
• Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutationTüysüz 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 2014, 45: 771-776. PMID: 25256152, DOI: 10.1007/s00247-014-3159-x.
• NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathyCaglayan 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 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.
• Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutationsVilarinho 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 2014, 61: 1178-1183. PMID: 25016225, DOI: 10.1016/j.jhep.2014.07.003.
• Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansErcan-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, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.
• CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and NeurodegenerationSchaffer 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, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration. Cell 2014, 157: 651-663. PMID: 24766810, PMCID: PMC4128918, DOI: 10.1016/j.cell.2014.03.049.
• Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative DisordersNovarino 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 GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud I, 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. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343: 506-511. PMID: 24482476, PMCID: PMC4157572, DOI: 10.1126/science.1247363.
• PATHOLOGYAdachi J, Totake K, Shirahata M, Mishima K, Suzuki T, Yanagisawa T, Fukuoka K, Nishikawa R, Arimappamagan A, Manoj N, Mahadevan A, Bhat D, Arvinda H, Indiradevi B, Somanna S, Chandramouli B, Petterson S, Hermansen S, Dahlrot R, Hansen S, Kristensen B, Carvalho F, Jalali S, Singh S, Croul S, Aldape K, Zadeh G, Choi J, Park S, Khang S, Suh Y, Kim S, Lee Y, Kim S, Coberly S, Samayoa K, Liu Y, Kiaei P, Hill J, Patterson S, Damore M, Dahiya S, Emnett R, Phillips J, Haydon D, Leonard J, Perry A, Gutmann D, Epari S, Ahmed S, Gurav M, Raikar S, Moiyadi A, Shetty P, Gupta T, Jalali R, Georges J, Zehri A, Carlson E, Martirosyan N, Elhadi A, Nichols J, Ighaffari L, Eschbacher J, Feuerstein B, Anderson T, Preul M, Jensen K, Nakaji P, Girardi H, Monville F, Carpentier S, Giry M, Voss J, Jenkins R, Boisselier B, Frayssinet V, Poggionovo C, Catteau A, Mokhtari K, Sanson M, Peyro-Saint-Paul H, Giannini C, Hide T, Nakamura H, Makino K, Yano S, Anai S, Shinojima N, Kuroda J, Takezaki T, Kuratsu J, Higuchi F, Matsuda H, Iwata K, Ueki K, Kim P, Kong J, Cooper L, Wang F, Gao J, Teodoro G, Scarpace L, Mikkelsen T, Schniederjan M, Moreno C, Saltz J, Brat D, Cho U, Hong Y, Lee Y, Lober R, Lu L, Gephart M, Fisher P, Miyazaki M, Nishihara H, Itoh T, Kato M, Fujimoto S, Kimura T, Tanino M, Tanaka S, Nguyen N, Moes G, Villano J, Nishihara H, Kanno H, Kato Y, Tanaka S, Ohnishi T, Harada H, Ohue S, Kouno S, Inoue A, Yamashita D, Okamoto S, Nitta M, Muragaki Y, Maruyama T, Sawada T, Komori T, Saito T, Okada Y, Omay S, Gunel J, Clark V, Li J, Omay E, Serin A, Kolb L, Hebert R, Bilguvar K, Ozduman K, Pamir M, Kilic T, Baehring J, Piepmeier J, Brennan C, Huse J, Gutin P, Yasuno K, Vortmeyer A, Gunel M, Perry A, Pugh S, Rogers C, Brachman D, McMillan W, Jenrette J, Barani I, Shrieve D, Sloan A, Mehta M, Prabowo A, Iyer A, Veersema T, Anink J, Meeteren A, Spliet W, van Rijen P, Ferrier T, Capper D, Thom M, Aronica E, Chharchhodawala T, Sable M, Sharma M, Sarkar C, Suri V, Singh M, Santosh V, Thota B, Srividya M, Sravani K, Shwetha S, Arivazhagan A, Thennarasu K, Chandramouli B, Hegde A, Kondaiah P, Somasundaram K, Rao M, Santosh V, Kumar V, Thota B, Shastry A, Arivazhagan A, Thennarasu K, Kondaiah P, Shastry A, Narayan R, Thota B, Somanna S, Thennarasu K, Arivazhagan A, Santosh V, Shastry A, Naz S, Thota B, Thennarasu K, Arivazhagan A, Somanna S, Santosh V, Kondaiah P, Venneti S, Garimella M, Sullivan L, Martinez D, Huse J, Heguy A, Santi M, Thompson C, Judkins A, Voronovich Z, Chen L, Clark K, Walsh M, Mannas J, Horbinski C, Wiestler B, Capper D, Holland-Letz T, Korshunov A, von Deimling A, Pfister S, Platten M, Weller M, Wick W, Zieman G, Dardis C, Ashby L, Eschbacher J. PATHOLOGY. Neuro-Oncology 2013, 15: iii156-iii164. PMCID: PMC3823899, DOI: 10.1093/neuonc/not184.
• OMICS AND PROGNSTIC MARKERSAdachi K, Sasaki H, Nagahisa S, Yoshida K, Hattori N, Nishiyama Y, Kawase T, Hasegawa M, Abe M, Hirose Y, Alentorn A, Marie Y, Poggioli S, Alshehhi H, Boisselier B, Carpentier C, Mokhtari K, Capelle L, Figarella-Branger D, Hoang-Xuan K, Sanson M, Delattre J, Idbaih A, Yust-Katz S, Anderson M, Olar A, Eterovic A, Ezzeddine N, Chen K, Zhao H, Fuller G, Aldape K, de Groot J, Andor N, Harness J, Lopez S, Fung T, Mewes H, Petritsch C, Arivazhagan A, Somasundaram K, Thennarasu K, Pandey P, Anandh B, Santosh V, Chandramouli B, Hegde A, Kondaiah P, Rao M, Bell R, Kang R, Hong C, Song J, Costello J, Bell R, Nagarajan R, Zhang B, Diaz A, Wang T, Song J, Costello J, Bie L, Li Y, Li Y, Liu H, Luyo W, Carnero M, Iruegas M, Morell A, Figueiras M, Lopez R, Valverde C, Chan A, Pang J, Chung N, Li K, Poon W, Chan D, Wang Y, Ng H, Chaumeil M, Larson P, Yoshihara H, Vigneron D, Nelson S, Pieper R, Phillips J, Ronen S, Clark V, Omay Z, Serin A, Gunel J, Omay B, Grady C, Youngblood M, Bilguvar K, Baehring J, Piepmeier J, Gutin P, Vortmeyer A, Brennan C, Pamir M, Kilic T, Krischek B, Simon M, Yasuno K, Gunel M, Cohen A, Sato M, Aldape K, Mason C, Diefes K, Heathcock L, Abegglen L, Shrieve D, Couldwell W, Schiffman J, Colman H, D'Alessandris Q, Cenci T, Martini M, Ricci-Vitiani L, De Maria R, Larocca L, Pallini R, de Groot J, Theeler B, Aldape K, Lang F, Rao G, Gilbert M, Sulman E, Luthra R, Eterovic K, Chen K, Routbort M, Verhaak R, Mills G, Mendelsohn J, Meric-Bernstam F, Yung A, MacArthur K, Hahn S, Kao G, Lustig R, Alonso-Basanta M, Chandrasekaran S, Wileyto E, Reyes E, Dorsey J, Fujii K, Kurozumi K, Ichikawa T, Onishi M, Ishida J, Shimazu Y, Kaur B, Chiocca E, Date I, Geisenberger C, Mock A, Warta R, Schwager C, Hartmann C, von Deimling A, Abdollahi A, Herold-Mende C, Gevaert O, Achrol A, Gholamin S, Mitra S, Westbroek E, Loya J, Mitchell L, Chang S, Steinberg G, Plevritis S, Cheshier S, Gevaert O, Mitchell L, Achrol A, Xu J, Steinberg G, Cheshier S, Napel S, Zaharchuk G, Plevritis S, Gevaert O, Achrol A, Chang S, Harsh G, Steinberg G, Cheshier S, Plevritis S, Gutman D, Holder C, Colen R, Dunn W, Jain R, Cooper L, Hwang S, Flanders A, Brat D, Hayes J, Droop A, Thygesen H, Boissinot M, Westhead D, Short S, Lawler S, Bady P, Kurscheid S, Delorenzi M, Hegi M, Crosby C, Faulkner C, Smye-Rumsby T, Kurian K, Williams M, Hopkins K, Faulkner C, Palmer A, Williams H, Wragg C, Haynes H, Williams M, Hopkins K, Kurian K, Haynes H, Crosby C, Williams H, White P, Hopkins K, Williams M, Kurian K, Ishida J, Kurozumi K, Ichikawa T, Onishi M, Fujii K, Shimazu Y, Oka T, Date I, Jalbert L, Elkhaled A, Phillips J, Chang S, Nelson S, Jensen R, Salzman K, Schabel M, Gillespie D, Mumert M, Johnson B, Mazor T, Hong C, Barnes M, Yamamoto S, Ueda H, Tatsuno K, Aihara K, Jalbert L, Nelson S, Bollen A, Hirst M, Marra M, Mukasa A, Saito N, Aburatani H, Berger M, Chang S, Taylor B, Costello J, Popov S, Mackay A, Ingram W, Burford A, Jury A, Vinci M, Jones C, Jones D, Hovestadt V, Picelli S, Wang W, Northcott P, Kool M, Reifenberger G, Pietsch T, Sultan M, Lehrach H, Yaspo M, Borkhardt A, Landgraf P, Eils R, Korshunov A, Zapatka M, Radlwimmer B, Pfister S, Lichter P, Joy A, Smirnov I, Reiser M, Shapiro W, Mills G, Kim S, Feuerstein B, Jungk C, Mock A, Geisenberger C, Warta R, Friauf S, Unterberg A, Herold-Mende C, Juratli T, McElroy J, Meng W, Huebner A, Geiger K, Krex D, Schackert G, Chakravarti A, Lautenschlaeger T, Kim B, Jiang W, Beiko J, Prabhu S, DeMonte F, Lang F, Gilbert M, Aldape K, Sawaya R, Cahill D, McCutcheon I, Lau C, Wang L, Terashima K, Yamaguchi S, Burstein M, Sun J, Suzuki T, Nishikawa R, Nakamura H, Natsume A, Terasaka S, Ng H, Muzny D, Gibbs R, Wheeler D, Lautenschlaeger T, Juratli T, McElroy J, Meng W, Huebner A, Geiger K, Krex D, Schackert G, Chakravarti A, Zhang X, Sun S, Lam K, Kiang K, Pu J, Ho A, Leung G, Loebel F, Curry W, Barker F, Lelic N, Chi A, Cahill D, Lu D, Yin J, Teo C, McDonald K, Madhankumar A, Weston C, Slagle-Webb B, Sheehan J, Patel A, Glantz M, Connor J, Maire C, Francis J, Zhang C, Jung J, Manzo V, Adalsteinsson V, Homer H, Blumenstiel B, Pedamallu C, Nickerson E, Ligon A, Love C, Meyerson M, Ligon K, Mazor T, Johnson B, Hong C, Barnes M, Jalbert L, Nelson S, Bollen A, Smirnov I, Song J, Olshen A, Berger M, Chang S, Taylor B, Costello J, Mehta S, Armstrong B, Peng S, Bapat A, Berens M, Melendez B, Mollejo M, Mur P, Hernandez-Iglesias T, Fiano C, Ruiz J, Rey J, Mock A, Stadler V, Schulte A, Lamszus K, Schichor C, Westphal M, Tonn J, Unterberg A, Herold-Mende C, Morozova O, Katzman S, Grifford M, Salama S, Haussler D, Nagarajan R, Zhang B, Johnson B, Bell R, Olshen A, Fouse S, Diaz A, Smirnov I, Kang R, Wang T, Costello J, Nakamizo S, Sasayama T, Tanaka H, Tanaka K, Mizukawa K, Yoshida M, Kohmura E, Northcott P, Hovestadt V, Jones D, Kool M, Korshunov A, Lichter P, Pfister S, Otani R, Mukasa A, Takayanagi S, Saito K, Tanaka S, Shin M, Saito N, Ozawa T, Riester M, Cheng Y, Huse J, Helmy K, Charles N, Squatrito M, Michor F, Holland E, Perrech M, Dreher L, Rohn G, Goldbrunner R, Timmer M, Pollo B, Palumbo V, Calatozzolo C, Patane M, Nunziata R, Farinotti M, Silvani A, Lodrini S, Finocchiaro G, Lopez E, Rioscovian A, Ruiz R, Siordia G, de Leon A, Rostomily C, Rostomily R, Silbergeld D, Kolstoe D, Chamberlain M, Silber J, Roth P, Keller A, Hoheisel J, Codo P, Bauer A, Backes C, Leidinger P, Meese E, Thiel E, Korfel A, Weller M, Saito K, Mukasa A, Nagae G, Nagane M, Aihara K, Takayanagi S, Tanaka S, Aburatani H, Saito N, Salama S, Sanborn J, Grifford M, Brennan C, Mikkelsen T, Jhanwar S, Chin L, Haussler D, Sasayama T, Tanaka K, Nakamizo S, Nishihara M, Tanaka H, Mizukawa K, Kohmura E, Schliesser M, Grimm C, Weiss E, Claus R, Weichenhan D, Weiler M, Hielscher T, Sahm F, Wiestler B, Klein A, Blaes J, Weller M, Plass C, Wick W, Stragliotto G, Rahbar A, Soderberg-Naucler C, Sulman E, Won M, Ezhilarasan R, Sun P, Blumenthal D, Vogelbaum M, Colman H, Jenkins R, Chakravarti A, Jeraj R, Brown P, Jaeckle K, Schiff D, Dignam J, Atkins J, Brachman D, Werner-Wasik M, Gilbert M, Mehta M, Aldape K, Terashima K, Shen J, Luan J, Yu A, Suzuki T, Nishikawa R, Matsutani M, Liang Y, Man T, Lau C, Trister A, Tokita M, Mikheeva S, Mikheev A, Friend S, Rostomily R, van den Bent M, Erdem L, Gorlia T, Taphoorn M, Kros J, Wesseling P, Dubbink H, Ibdaih A, Sanson M, French P, van Thuijl H, Mazor T, Johnson B, Fouse S, Heimans J, Wesseling P, Ylstra B, Reijneveld J, Taylor B, Berger M, Chang S, Costello J, Prabowo A, van Thuijl H, Scheinin I, van Essen H, Spliet W, Ferrier C, van Rijen P, Veersema T, Thom M, Meeteren A, Reijneveld J, Ylstra B, Wesseling P, Aronica E, Kim H, Zheng S, Mikkelsen T, Brat D, Virk S, Amini S, Sougnez C, Chin L, Barnholtz-Sloan J, Verhaak R, Watts C, Sottoriva A, Spiteri I, Piccirillo S, Touloumis A, Collins P, Marioni J, Curtis C, Tavare S, Weiss E, Grimm C, Schliesser M, Hielscher T, Claus R, Sahm F, Wiestler B, Klein A, Blaes J, Tews 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• P238 – 1858 New mutations detected in primer microcephaly genes by whole-exome sequencingPer H, 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 2013, 17: s118-s119. DOI: 10.1016/s1090-3798(13)70417-3.
• P35 – 1937 A new variant detected in GRIN2A by whole-exome sequencing in a patient with intellectual disability with intractable epilepsyPer H, Caglayan A, Canpolat M, Bilguvar K, Gümüş H, Kumandas S. P35 – 1937 A new variant detected in GRIN2A by whole-exome sequencing in a patient with intellectual disability with intractable epilepsy. European Journal Of Paediatric Neurology 2013, 17: s63. DOI: 10.1016/s1090-3798(13)70214-9.
• Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular AbnormalitiesRadmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Šestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities. American Journal Of Human Genetics 2013, 92: 468-474. PMID: 23472759, PMCID: PMC3591846, DOI: 10.1016/j.ajhg.2013.02.005.
• Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegenerationBilguvar 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, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. 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 2013, 110: 3489-3494. PMID: 23359680, PMCID: PMC3587195, DOI: 10.1073/pnas.1222732110.
• Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMOClark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Özduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yılmaz B, Grady C, Tanrıkulu B, Bakırcıoğlu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kılıç T, Lifton RP, Noonan JP, Yasuno K, Günel M. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Science 2013, 339: 1077-1080. PMID: 23348505, PMCID: PMC4808587, DOI: 10.1126/science.1233009.
• A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan A. A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? Genetic Counseling 2013, 24: 283-9. PMID: 24341143.
• De novo mutations revealed by whole-exome sequencing are strongly associated with autismSanders 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, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Šestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485: 237-241. PMID: 22495306, PMCID: PMC3667984, DOI: 10.1038/nature10945.
• Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with AutismFernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.
• Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm riskYasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernesniemi J, Schaller K, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 19707-19712. PMID: 22106312, PMCID: PMC3241810, DOI: 10.1073/pnas.1117137108.
• Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindredGulsuner 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, Ozcelik T. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research 2011, 21: 1995-2003. PMID: 21885617, PMCID: PMC3227090, DOI: 10.1101/gr.126110.111.
• Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismSanders 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, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.
• Recessive LAMC3 mutations cause malformations of occipital cortical developmentBarak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.
• The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex NeurogenesisBakircioglu 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, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. American Journal Of Human Genetics 2011, 88: 523-535. PMID: 21529752, PMCID: PMC3146716, DOI: 10.1016/j.ajhg.2011.03.019.
• Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsBilgüvar K, Öztürk A, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz B, Çağlayan A, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467: 207-210. PMID: 20729831, PMCID: PMC3129007, DOI: 10.1038/nature09327.
• L-Histidine Decarboxylase and Tourette's SyndromeErcan-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, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.
• Genome-wide association study of intracranial aneurysm identifies three new risk lociYasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics 2010, 42: 420-425. PMID: 20364137, PMCID: PMC2861730, DOI: 10.1038/ng.563.
• COL4A1 Mutation in Preterm Intraventricular HemorrhageBilguvar 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 2009, 155: 743-745. PMID: 19840616, PMCID: PMC2884156, DOI: 10.1016/j.jpeds.2009.04.014.
• The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15Bilguvar 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 2009, 149A: 2569-2572. PMID: 19876906, DOI: 10.1002/ajmg.a.33063.
• Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm InfantsDiLuna M, Bilguvar K, Louvi A, Bizzarro M, Bayrakli F, Bayri Y, Bydon M, Schneider K, Duncan C, State M, Lifton R, Ment L, Gunel M. Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants. Neurosurgery 2009, 65: 419. DOI: 10.1227/01.neu.0000358727.92507.ea.
• Susceptibility loci for intracranial aneurysm in European and Japanese populationsBilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von und zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Öhman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics 2008, 40: 1472-1477. PMID: 18997786, PMCID: PMC2682433, DOI: 10.1038/ng.240.
• Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injuryAkdemir O, Uçankale M, Karaoğlan A, Barut Ş, Sağmanligil A, Bilguvar K, Çirakoğlu B, Şahan E, Çolak A. Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury. Journal Of Clinical Neuroscience 2008, 15: 1130-1136. PMID: 18656362, DOI: 10.1016/j.jocn.2007.08.011.
• Rapid identification of disease‐causing mutations using copy number analysis within linkage intervalsBayrakli 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 2007, 28: 1236-1240. PMID: 17676595, DOI: 10.1002/humu.20592.
• Linkage and Copy Number Variation Analysis of Large Families and Sibling Pairs Demonstrates Locus Heterogeneity for Familial Intracranial AneurysmsBilguvar K, Bayrakli F, Bayri Y, Ozturk A, DiLuna M, Bydon M, Gunel M. Linkage and Copy Number Variation Analysis of Large Families and Sibling Pairs Demonstrates Locus Heterogeneity for Familial Intracranial Aneurysms. Neurosurgery 2007, 61: 198. DOI: 10.1227/01.neu.0000279890.51914.ec.
• Contributor's ListBerkovic S, Bilguvar K, Blackstone C, Bloch M, Blumenfeld H, Bredesen D, Bressman S, Brucal M, Burton E, Dalmau J, Dawson T, Dawson V, Depondt C, DiLuna M, DiMauro S, Ferrari M, Fink D, Flügel A, Frants R, Glorioso J, Goadsby P, Goldin A, Gunel M, Harel N, Helbig I, Hemmen T, Hisama F, Hyman B, Ingelsson M, Johnson D, Kamholz J, Kaul M, Kocsis J, Lammers G, Leckman J, Li J, Lipton S, Maragakis N, Mehlen P, Morimoto R, Orton K, Overeem S, Ozelius L, Pandolfo M, Pascual J, Paulson H, Peroutka S, Petroff O, Ransom C, Rao R, Rismanchi N, Rothstein J, Savitt J, Scheffer I, Schon E, Shy M, Strittmatter S, Tafti M, Tanriover G, Todi S, van den Maagdenberg A, Vance J, Vincent A, Voisine C, Waxman S, Wekerle H, Williams A, Wood J, Yang Y, Zivin J. Contributor's List. 2007, vii-ix. DOI: 10.1016/b978-012369509-3.50001-9.
• 13 Hemorrhagic Brain DiseaseDiLuna M, Bilguvar K, Tanriover G, Gunel M. 13 Hemorrhagic Brain Disease. 2007, 187-205. DOI: 10.1016/b978-012369509-3.50015-9.
• Response to Letter by Stahl and FelborBilguvar K, Ozturk A, Gunel M, Guclu B. Response to Letter by Stahl and Felbor. Stroke 2006, 37: 2215-2216. DOI: 10.1161/01.str.0000237183.62327.c5.
• Genetic Heterogeneity of Intracranial Aneurysm: Paper 6Gunel M, Ozturk A, Bydon M, Nahed B, Guclu B, Bilguvar K, Goksu E, Bademci G, Amar A. Genetic Heterogeneity of Intracranial Aneurysm: Paper 6. Neurosurgery 2006, 58: 399-399. DOI: 10.1227/01.neu.0000310161.39229.21.