Publication Search < Kaya Bilguvar, MD, PhD

Showing 1 - 20 of 132 Publications

2025

Effects of essential tremor on longevity and mortality rates in families
Onat O, Ustunel F, Akbostanci C, Doganyigit K, Sen M, Gunaydin E, Bilguvar K, Akbostanci M. Effects of essential tremor on longevity and mortality rates in families. PLOS ONE 2025, 20: e0320422. PMID: 40193366, PMCID: PMC11975089, DOI: 10.1371/journal.pone.0320422.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families
Büyükgöl F, Gürdamar B, Aluçlu M, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül S, Çetin Ö, Demir C, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda M, Saip S, Seferoğlu M, Sever E, Sezerman O, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan Ö, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin M, Yüceyar N, Siva A, Turanlı E. Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. Scientific Reports 2025, 15: 11682. PMID: 40188234, PMCID: PMC11972333, DOI: 10.1038/s41598-025-94691-x.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization
Koroglu M, Bilguvar K. A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization. Methods In Molecular Biology 2025, 2889: 207-233. PMID: 39745615, DOI: 10.1007/978-1-0716-4322-8_15.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

2023

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility
Hwang J, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton R, Ahmad W, Zhang K, Chung J. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. ELife 2023, 12: rp90095. PMID: 38091523, PMCID: PMC10721216, DOI: 10.7554/elife.90095.
Peer-Reviewed Original Research
MeSH Keywords
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
Youngblood 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.
Peer-Reviewed Original Research
MeSH Keywords
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa 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.
Peer-Reviewed Original Research
MeSH Keywords
Toward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome Sequencing
Erdogan 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Lee 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

2022

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Tuysuz 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene
George S, Suwondo P, Akorli J, Otchere J, Harrison LM, Bilguvar K, Knight JR, Humphries D, Wilson MD, Caccone A, Cappello M. Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene. Scientific Reports 2022, 12: 11459. PMID: 35794459, PMCID: PMC9259660, DOI: 10.1038/s41598-022-15718-1.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Ozcelik T, Keles S, Bousfiha AA, Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Lab H, Clinicians C, Clinicians C, Group N, Group N, Danish C, Study D, St. James's Hospital S, Group F, COVID-Group I, Consortium T, Cohort C, Investigators A, Effort C, Group C, cohort C, Study 3, Health-Care C, du Sang Study group E, Anderson M, Boisson B, Béziat V, Zhang S, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, Rowen L, Mond J, Debette S, de Lamballerie X, Burdet C, Bouadma L, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen P, Piemonti L, Rodríguez-Gallego C, Notarangelo L, Su H, Kisand K, Okada S, Puel A, Jouanguy E, Rice C, Tiberghien P, Zhang Q, Casanova J, Abel L, Cobat A, Zhang P, Seeleuthner Y, Talouarn E, Marchal A, Matuozzo D, de la Chapelle A, Chen J, Chrabieh M, Liu D, Nemirowskaya Y, Cruz I, Materna M, Pelet S, Thibault C, Liu Z, Abad J, Accordino G, Achille C, Aguilera-Albesa S, Aguiló-Cucurull A, Aiuti A, Özkan E, Darazam I, Albisures J, Aldave J, Ramos M, Khan T, Aliberti A, Nadji S, Alkan G, AlKhater S, Allardet-Servent J, Allende L, Alonso-Arias R, Alshahrani M, Alsina L, Alyanakian M, Borrero B, Amoura Z, Antolí A, Arrestier R, Aubart M, Auguet T, Avramenko I, Aytekin G, Azot A, Bahram S, Bajolle F, Baldanti F, Baldolli A, Ballester M, Feldman H, Barrou B, Barzaghi F, Basso S, Bayhan G, Belot A, Bezrodnik L, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blázquez-Gamero D, Bleibtreu A, Bloomfield M, Bolivar-Prados M, Bondarenko A, Borghesi A, Borie R, Botdhlo-Nevers E, Bousfiha A, Bousquet A, Boutolleau D, Bouvattier C, Boyarchuk O, Bravais J, Briones M, Brunner M, Bruno R, Bueno M, Bukhari H, Bustamante J, Agra J, Capra R, Carapito R, Carrabba M, Casari G, Casasnovas C, Caseris M, Cassaniti I, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Celik J, Ceschi A, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Cohen Y, Colobran R, Comarmond C, Combes A, Comoli P, Corsico A, Coşkuner T, Cvetkovski A, Cyrus C, Dalmau D, Danion F, Darley D, Das V, Dauby N, Dauger S, De Munter P, de Pontual L, Dehban A, Delplancq G, Demoule A, Desguerre I, Di Sabatino A, Diehl J, Dobbelaere S, Domínguez-Garrido E, Dubost C, Ekwall O, Bozdemir Ş, Elnagdy M, Emiroglu M, Endo A, Erdeniz E, Aytekin S, Lasa M, Euvrard R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Ferrer R, Ferreres J, Flores C, Francois B, Fumadó V, Fung K, Fusco F, Gagro A, Solis B, Gaussem P, Gayretli Z, Gil-Herrera J, Gilardin L, Gatineau A, Girona-Alarcón M, Godínez K, Goffard J, Gonzales N, Gonzalez-Granado L, González-Montelongo R, Guerder A, Gülhan B, Gumucio V, Hanitsch L, Gunst J, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, HANCERLI S, Hariyan T, Hatipoglu N, Heppekcan D, Hernandez-Brito E, Ho P, Holanda-Peña M, Horcajada J, Hraiech S, Humbert L, Hung I, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jimeno M, Jordan I, Kanık-Yüksek S, Kara Y, Karahan A, Karbuz A, Yasar K, Kasapcopur O, Kashimada K, Keles S, Demirkol Y, Kido Y, Kizil C, Kılıç A, Klocperk A, Daganou M, Koukaki E, Koutsoukou A, Rapti V, Syrigos K, Król Z, Ksouri H, Kuentz P, Kwan A, Kwan Y, Kwok J, Lagier J, Lam D, Conti F, Pession A, Lampropoulou V, Lanternier F, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Lilleri D, Lima E, Linglart A, López-Collazo E, Lorenzo-Salazar J, Louapre C, Lubetzki C, Lung K, Luyt C, Lye D, Magnone C, Mansouri D, Marchioni E, Marioli C, Marjani M, Marques L, Pereira J, Martín-Nalda A, Pueyo D, Martinez-Picado J, Marzana I, Mata-Martínez C, Mathian A, Matos L, Matthews G, Mayaux J, McLaughlin-Garcia R, Meersseman P, Mège J, Mekontso-Dessap A, Melki I, Meloni F, Meritet J, Merlani P, Akcan Ö, Meyts I, Mezidi M, Migeotte I, Millereux M, Million M, Mirault T, Mircher C, Mirsaeidi M, Mizoguchi Y, Modi B, Mojoli F, Moncomble E, Melián A, Martinez A, Morandeira F, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Nafati C, Nagashima S, Nakagama Y, Neven B, Neves J, Ng L, Ng Y, Nielly H, Medina Y, Cuadros E, Ocejo-Vinyals J, Okamoto K, Oualha M, Ouedrani A, Özçelik T, Ozkaya-Parlakay A, Pagani M, Pan-Hammarström Q, Papadaki M, Parizot C, Parola P, Pascreau T, Paul S, Paz-Artal E, Pedraza-Sánchez S, Gálvez-Romero J, Pellecer N, Pellegrini S, de Diego R, Pérez-Fernández X, Philippe A, Philippot Q, Picod A, de Chambrun M, Piralla A, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Poulakou G, Pouletty M, Pourshahnazari P, Qiu-Chen J, Quentric P, Rambaud T, Raoult D, Raoult V, Rebillat A, Redin C, Resmini L, Ricart P, Richard J, Rigo-Bonnin R, rivet N, Rivière J, Rocamora-Blanch G, Rodero M, Rodrigo C, Rodriguez L, Rodriguez-Gallego C, Rodriguez-Palmero A, Romero C, Rothenbuhler A, Roux D, Rovina N, Rozenberg F, Ruch Y, Ruiz M, del Prado M, Ruiz-Rodriguez J, Sabater-Riera J, Saks K, Salagianni M, Sanchez O, Sánchez-Montalvá A, Sánchez-Ramón S, Schidlowski L, Schluter A, Schmidt J, Schmidt M, Schuetz C, Schweitzer C, Scolari F, Sediva A, Seijo L, Seminario A, Sene D, Seng P, Senoglu S, Seppänen M, Llovich A, Shahrooei M, Shcherbina A, Siguret V, Siouti E, Smadja D, Smith N, Sobh A, Solanich X, Solé-Violán J, Soler C, Soler-Palacín P, Sözeri B, Stella G, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Vidaur L, Terrier B, Thiery G, Thorball C, Thorn K, Thumerelle C, Tipu I, Tolstrup M, Tomasoni G, Toubiana J, Alvarez J, Trouillet-Assant S, Troya J, Tsang O, Tserel L, Tso E, Tucci A, Öz Ş, Ursini M, Utsumi T, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Den Rym A, Vandernoot I, Velez-Santamaria V, Veliz S, Vidigal M, Viel S, Villain C, Vilaire-Meunier M, Villar-García J, Vincent A, Vogt G, Voiriot G, Volokha A, Vuotto F, Wauters E, Wauters J, Wu A, Wu T, Yahşi A, Yesilbas O, Yildiz M, Young B, Yükselmiş U, Zatz M, Ghirardello S, Zuccaro V, de Andrés A, Van Praet J, Lambrecht B, Van Braeckel E, Bosteels C, Hoste L, Hoste E, Bauters F, De Clercq J, Heijmans C, Slabbynck H, Naesens L, Florkin B, Boulanger C, Vanderlinden D, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Danielson J, Dobbs K, Kashyap A, Ding L, Dalgard C, Sottini A, Quaresima V, Quiros-Roldan E, Rossi C, Bettini L, D’Angio M, Beretta I, Montagna D, Licari A, Marseglia G, Batten I, Reddy C, McElheron M, Noonan C, Connolly E, Fallon A, Storgaard M, Jørgensen S, Tolstrup M, Erikstrup C, Pedersen O, Sørensen E, Mikkelsen S, Dinh K, Larsen M, Paulsen I, Von Stemann J, Hansen M, Ostrowski S, Townsend L, Cheallaigh C, Bergin C, Martin-Loeches I, Dunne J, Conlon N, Bourke N, O’Farrelly C, Abel L, Allavena C, Andrejak C, Angoulvant F, Azoulay C, Bachelet D, Bartoli M, Basmaci R, Behillill S, Beluze M, Benech N, Benkerrou D, Bhavsar K, Bitker L, Bouadma L, Bouscambert-Duchamp M, Paz P, Cervantes-Gonzalez M, Chair A, Chirouze C, Coelho A, Cordel H, Couffignal C, Couffin-Cadiergues S, d’Ortenzio E, De Montmollin E, Debard A, Debray M, Deplanque D, Descamps D, Desvallée M, Diallo A, Diehl J, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Epaulard O, Esperou H, Esposito-Farase M, Etienne M, Garot D, Gault N, Gaymard A, Ghosn J, Gigante T, Gilg M, Goehringer F, Guedj J, Hoctin A, Hoffmann I, Houas I, Hulot J, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Kerroumi Y, Khalil A, Khan C, Kimmoun A, Laine F, Laouénan C, Laribi S, Le M, Le Bris C, Le Gac S, Le Hingrat Q, Le Mestre S, Le Nagard H, Lemaignen A, Lemee V, Lescure F, Letrou S, Levy Y, Lina B, Lingas G, Lucet J, Machado M, Malvy D, Mambert M, Manuel A, Mentré F, Meziane A, Mouquet H, Mullaert J, Neant N, Nguyen D, Noret M, Papadopoulos A, Paul C, Peiffer-Smadja N, Peigne V, Petrov-Sanchez V, Peytavin G, Pham H, Picone O, Piquard V, Poissy J, Puéchal O, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Su R, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Tual C, Tubiana S, Van Der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Annereau J, Briseño-Roa L, Gribouval O, Jaïs J, Pelet A, Abel L, Alcover A, Aschard H, Bousso P, Bourke N, Brodin P, Bruhns P, Cerf-Bensussan N, Cumano A, D’Enfert C, Deriano L, Dillies M, Di Santo J, Dromer F, Eberl G, Enninga J, Fellay J, Gomperts-Boneca I, Hasan M, Hedestam G, Hercberg S, Ingersoll M, Lantz O, Kenny R, Ménager M, Michel F, Mouquet H, O’Farrelly C, Patin E, Pellegrini S, Rausell A, Rieux-Laucat F, Rogge L, Fontes M, Sakuntabhai A, Schwartz O, Schwikowski B, Shorte S, Tangy F, Toubert A, Touvier M, Ungeheuer M, Zimmer C, Albert M, Duffy D, Quintana-Murci L, 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, Bourgeon M, Lefèvre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Kouakam C, Leturque N, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, van Agtmael M, Algera A, Appelman B, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bonta P, Bos L, Botta M, de Brabander J, de Bree G, de Bruin S, Buis D, Bugiani M, Bulle E, Chouchane O, Cloherty A, Dijkstra M, Dongelmans D, Dujardin R, Elbers P, Fleuren L, Geerlings S, Geijtenbeek T, Girbes A, Goorhuis B, Grobusch M, Hafkamp F, Hagens L, Hamann J, Harris V, Hemke R, Hermans S, Heunks L, Hollmann M, Horn J, Hovius J, de Jong M, Koning R, Lim E, van Mourik N, Nellen J, Nossent E, Paulus F, Peters E, Pina-Fuentes D, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, de Rotte M, Schinkel M, Schultz M, Schrauwen F, Schuurman A, Schuurmans J, Sigaloff K, Slim M, Smeele P, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, Tuinman P, van der Valk M, Veelo D, Volleman C, de Vries H, Vught L, van Vugt M, Wouters D, Zwinderman A, Brouwer M, Wiersinga W, Vlaar A, van de Beek D, Abel L, Aiuti A, Al-Muhsen S, Al-Mulla F, Anderson M, Andreakos E, Arias A, Feldman H, Belot A, Biggs C, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Condino-Neto A, Constantinescu S, Cooper M, Dalgard C, Desai M, Drolet B, Baghdadi J, Espinosa-Padilla S, Fellay J, Flores C, Franco J, Froidure A, Gregersen P, Haerynck F, Hagin D, Halwani R, Hammarström L, Heath J, Henrickson S, Hsieh E, Husebye E, Imai K, Itan Y, Jarvis E, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Maródi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli A, Novelli G, O’Farrelly C, Okada S, Ozcelik T, Pan-Hammarström Q, de Diego R, Planas A, Perez-Tur J, Arkin L, Asano T, Oriol R, Prando C, Pujol A, Quintana-Murci L, Renia L, Resnick I, Rodríguez-Gallego C, Sancho-Shimizu V, Sediva A, Seppänen M, Shahrooei M, Shcherbina A, Slaby O, Snow A, Soler-Palacín P, Spaan A, Tancevski I, Tangye S, Tayoun A, Ramaswamy S, Turvey S, Uddin K, Uddin M, van de Beek D, Vinh D, von Bernuth H, Zatz M, Zawadzki P, Grimbacher B, Okamoto K, Pape J, Perlin D, Pesole G, Wauters J, Su H, Casanova J, García P, López G, Rojas-Villaraga A, Vélez V, Landinez L, Correales L, Gómez O, Guaqueta J, Pérez C, Carrillo J, Vergara J, Landinez S, Mantilla R, Yepes J, Ricaurte O, Pérez-Díaz C, Mateus Y, Navarro L, Rodríguez Y, Acosta-Ampudia Y, Monsalve D, Rojas M, Nadif R, Goldberg M, Ozguler A, Henny J, Lemonnier S, Coeuret-Pellicer M, Le Got S, Zins M, Tzourio C, Debette S, Dufouil C, Soumaré A, Lachaize M, Fievet N, Flaig A, Martin F, Bonneaudeau B, Cognasse F, Cannet D, Gallian P, Jeanne M, Morel P, Perroquin M, Richard P, Tiberghien P, Hamzeh-Cognasse H. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 119: e2200413119. PMID: 35576468, PMCID: PMC9173764, DOI: 10.1073/pnas.2200413119.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota
Petrone ME, Rothman JE, Breban MI, Ott IM, Russell A, Lasek-Nesselquist E, Badr H, Kelly K, Omerza G, Renzette N, Watkins AE, Kalinich CC, Alpert T, Brito AF, Earnest R, Tikhonova IR, Castaldi C, Kelly JP, Shudt M, Plitnick J, Schneider E, Murphy S, Neal C, Laszlo E, Altajar A, Pearson C, Muyombwe A, Downing R, Razeq J, Niccolai L, Wilson MS, Anderson ML, Wang J, Liu C, Hui P, Mane S, Taylor BP, Hanage WP, Landry ML, Peaper DR, Bilguvar K, Fauver JR, Vogels CBF, Gardner LM, Pitzer VE, St. George K, Adams MD, Grubaugh ND. Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota. Communications Biology 2022, 5: 439. PMID: 35545661, PMCID: PMC9095641, DOI: 10.1038/s42003-022-03347-3.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
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 2022, 67: 553-556. PMID: 35338243, PMCID: PMC9420744, DOI: 10.1038/s10038-022-01032-1.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA
Earnest R, Uddin R, Matluk N, Renzette N, Turbett SE, Siddle KJ, Loreth C, Adams G, Tomkins-Tinch CH, Petrone ME, Rothman JE, Breban MI, Koch RT, Billig K, Fauver JR, Vogels CBF, Bilguvar K, De Kumar B, Landry ML, Peaper DR, Kelly K, Omerza G, Grieser H, Meak S, Martha J, Dewey HB, Kales S, Berenzy D, Carpenter-Azevedo K, King E, Huard RC, Novitsky V, Howison M, Darpolor J, Manne A, Kantor R, Smole SC, Brown CM, Fink T, Lang AS, Gallagher GR, Pitzer VE, Sabeti PC, Gabriel S, MacInnis BL, Team N, Altajar A, DeJesus A, Brito A, Watkins A, Muyombwe A, Blumenstiel B, Neal C, Kalinich C, Liu C, Loreth C, Castaldi C, Pearson C, Bernard C, Nolet C, Ferguson D, Buzby E, Laszlo E, Reagan F, Vicente G, Rooke H, Munger H, Johnson H, Tikhonova I, Ott I, Razeq J, Meldrim J, Brown J, Wang J, Vostok J, Beauchamp J, Grimsby J, Hall J, Messer K, Larkin K, Vernest K, Madoff L, Green L, Webber L, Gagne L, Ulcena M, Ray M, Fisher M, Barter M, Lee M, DeFelice M, Cipicchio M, Smith N, Lennon N, Fitzgerald N, Kerantzas N, Hui P, Harrington R, Downing R, Haye R, Lynch R, Anderson S, Hennigan S, English S, Cofsky S, Clancy S, Mane S, Ash S, Baez S, Fleming S, Murphy S, Chaluvadi S, Alpert T, Rivard T, Schulz W, Mandese Z, Tewhey R, Adams M, Park D, Lemieux J, Grubaugh N. Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA. Cell Reports Medicine 2022, 3: 100583. PMID: 35480627, PMCID: PMC8913280, DOI: 10.1016/j.xcrm.2022.100583.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Assessment of Clinical Effectiveness of BNT162b2 COVID-19 Vaccine in US Adolescents
Oliveira 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified
Karakaya C, Çil AP, Bilguvar K, Çakir T, Karalok MH, Karabacak RO, Caglayan AO. Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified. Journal Of Obstetrics And Gynaecology Research 2022, 48: 1202-1211. PMID: 35141985, PMCID: PMC9050819, DOI: 10.1111/jog.15187.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Baxter 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, 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

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