Now showing items 1-20 of 25

    • Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation 

      Demirayak, Pınar; Onat, Onur Emre; Gevrekci, A. Ö.; Gülsüner, S.; Uysal, H.; Bilgen, R.; Doerschner, Katja; Özçelik, Tayfun; Boyacı, Hüseyin (Turkish Society of Radiology, 2018)
      PURPOSE Congenital mirror movement disorder (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body. In healthy controls, unilateral ...
    • Autoantibodies against type I IFNs in patients with life-threatening COVID-19 

      Bastard, P.; Rosen, L. B.; Zhang, Q.; Michailidis, E.; Hoffmann, H.-H.; Zhang, Y.; Dorgham, K.; Philippot, Q.; Rosain, J.; Béziat, V.; Manry, J.; Shaw, E.; Haljasmägi, L.; Peterson, P.; Lorenzo, L.; Bizien, L.; Trouillet-Assant, S.; Dobbs, K.; Almeida de Jesus, A.; Belot, A.; Kallaste, A.; Catherinot, E.; Tandjaoui-Lambiotte, Y.; Le Pen, J.; Kerner, G.; Bigio, B.; Seeleuthner, Y.; Yang, R.; Bolze, A.; Spaan, A. N.; Delmonte, O. M.; Abers, M. S.; Aiuti, A.; Casari, G.; Lampasona, V.; Piemonti, L.; Ciceri, F.; Bilguvar, K.; Lifton, R. P.; Vasse, M.; Smadja, D. M.; Migaud, M.; Hadjadj, J.; Terrier, B.; Duffy, D.; Quintana-Murci, L.; van de Beek, D.; Roussel, L.; Vinh, D. C.; Tangye, S. G.; Haerynck, F.; Dalmau, D.; Martinez-Picado, J.; Brodin, P.; Nussenzweig, M. C.; Boisson-Dupuis, S.; Rodríguez-Gallego, C.; Vogt, G.; Mogensen, T. H.; Oler, A. J.; Gu, J.; Burbelo, P. D.; Cohen, J. I.; Biondi, A.; Bettini, L. R.; D'Angio, M.; Bonfanti, P.; Rossignol, P.; Mayaux, J.; Rieux-Laucat, F.; Husebye, E. S.; Fusco, F.; Ursini, M. V.; Imberti, L.; Sottini, A.; Paghera, S.; Quiros-Roldan, E.; Rossi, C.; Castagnoli, R.; Montagna, D.; Özçelik, Tayfun; Licari, A.; Marseglia, G. L.; Duval, X.; Ghosn, J.; Tsang, J. S.; Goldbach-Mansky, R.; Kisand, K.; Lionakis, M. S.; Puel, A.; Zhang, S.- Y.; Holland, S. M.; Gorochov, G.; Jouanguy, E.; Rice, C. M.; Cobat, A.; Notarangelo, L. D.; Abel, L.; Su, H. C.; Casanova, J. L.; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort (2020)
      Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease ...
    • Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 

      Bastard, P.; Gervais, A.; Le Voyer, T.; Rosain, J.; Philippot, Q.; Manry, J.; Michailidis, E.; Hoffmann, H. H.; Eto, S.; Garcia-Prat, M.; Bizien, L.; Parra-Martinez, A.; Yang, R.; Haljasmagi, L.; Migaud, M.; Sarekannu, K.; Maslovskaja, J.; de Prost, N.; Tandjaoui-Lambiotte, Y.; Luyt, C. E.; Amador-Borrero, B.; Gaudet, A.; Poissy, J.; Morel, P.; Richard, P.; Cognasse, F.; Troya, J.; Trouillet-Assant, S.; Belot, A.; Saker, K.; Garcon, P.; Riviere, J. G.; Lagier, J. C.; Gentile, S.; Rosen, L. B.; Shaw, E.; Morio, T.; Tanaka, J.; Dalmau, D.; Tharaux, PL.; Sene, D.; Stepanian, A.; Megarbane, B.; Triantafyllia, V.; Fekkar, A.; Heath, J. R.; Franco, JL.; Anaya, J. M.; Sole-Violan, J.; Imberti, L.; Biondi, A.; Bonfanti, P.; Castagnoli, R.; Delmonte, O. M.; Zhang, Y.; Snow, A. L.; Holland, S. M.; Biggs, C. M.; Moncada-Velez, M.; Arias, A. A.; Lorenzo, L.; Boucherit, S.; Coulibaly, B.; Anglicheau, D.; Planas, A. M.; Haerynck, F.; Duvlis, S.; Nussbaum, R. L.; Özçelik, Tayfun; Keles, S.; Bousfiha, A. A.; El Bakkouri, J.; Ramirez-Santana, C.; Paul, S.; Pan-Hammarstrom, Q.; Hammarstrom, L.; Dupont, A.; Kurolap, A.; Metz, CN.; Aiuti, A.; Casari, G.; Lampasona, V.; Ciceri, F.; Barreiros, L. A.; 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, S. G.; Burrel, S.; Duffy, D.; Quintana-Murci, L.; Klocperk, A.; Kann, N. Y.; Shcherbina, A.; Lau, Y. L.; Leung, D.; Coulongeat, M.; Marlet, J.; Koning, R.; Reyes, L. F.; Chauvineau-Grenier, A.; Venet, F.; Monneret, G.; Nussenzweig, MC.; Arrestier, R.; Boudhabhay, I.; Baris-Feldman, H.; Hagin, D.; Wauters, J.; Meyts, I.; Dyer, A. H.; Kennelly, SP.; Bourke, N. M.; Halwani, R.; Sharif-Askari, N. S.; Dorgham, K.; Sallette, J.; Sedkaoui, S. M.; AlKhater, S.; Rigo-Bonnin, R.; Morandeira, F.; Roussel, L.; Vinh, DC.; Ostrowski, SR.; Condino-Neto, A.; Prando, C.; Bondarenko, A.; Spaan, A. N.; Gilardin, L.; Fellay, J.; Lyonnet, S.; Bilguvar, K.; Lifton, R. P.; Mane, S.; Anderson, M. S.; Boisson, B.; Beziat, V.; Zhang, SY.; Andreakos, E.; Hermine, O.; Pujol, A.; Peterson, P.; Mogensen, T. H.; Rowen, L.; Mond, J.; Debette, S.; de Lamballerie, X.; Duval, X.; Mentre, F.; Zins, M.; Soler-Palacin, P.; Colobran, R.; Gorochov, G.; Solanich, X.; Susen, S.; Martinez-Picado, J.; Raoult, D.; Vasse, M.; Gregersen, P. K.; Piemonti, L.; Rodriguez-Gallego, C.; Notarangelo, LD.; Su, H. C.; Kisand, K.; Okada, S.; Puel, A.; Jouanguy, E.; Rice, C. M.; Tiberghien, P.; Zhang, Q.; Cobat, A.; Abel, L.; Casanova, J. L. (American Association for the Advancement of Science (AAAS), 2021-08-20)
      Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 (coronavirus disease 2019) pneumonia ...
    • Causal mutation discovery using next generation sequencing data: development and application of a pipeline to reduce false positive calls and to map regions of shared homozygosity and IBD 

      Gülsüner, Süleyman; Walsh, T.; Watts, A. C.; Lee, M. K.; Özçelik, Tayfun; King, M. C. (American Society of Human Genetics, 2012-11)
      Next generation sequencing technologies have brought enormous successes for disease gene discovery but also challenges for data analysis, particularly in genomic regions with low or low quality sequence coverage. Errors ...
    • Collaborative genomics for human health and cooperation in the Mediterranean region 

      Özçelik, Tayfun; Kanaan, M.; Yannoukakos, D.; Avraham, K.B.; Mégarbané, A.; Tadmouri, G.O.; Middleton, L.; Romeo, G.; King & Levy-Lahad, M.C.& E. (Nature Publishing Group, 2010-08)
      The US government has proposed the development of scientific centers of excellence to solve global challenges. We propose such a center of excellence devoted to the genomic analysis of Mediterranean populations of all ...
    • Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation 

      Demirayak, P.; Oğuz, Kader Karlı; Üstün, Fatma Seyhun; Ürgen, Buse Merve; Topaç, Yasemin; Gilani, İrtiza; Kansu, T.; Saygı, S.; Özçelik, Tayfun; Boyacı, Hüseyin; Doerschner, Katja (John Wiley & Sons Ltd., 2021-08)
      The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring ...
    • Evaluation of chimerism with DNA polymorphisms in bone marrow transplantation 

      Özbek, U.; Vural, B.; Kalayoǧlu, S.; Soysal, T.; Bilgen, H.; Yavuz, S.; Anak, S.; Sargın, D.; Gedikoǧlu G.; Ferhanoǧlu, Burhan; Akoǧlu, T.; Tangün, Y.; Özçelik, Tayfun (International Children's Center (I C C), 1997)
      Evaluation of chimeric status following allogenlc BMT is an Important tool for monitoring the replacement of host cells with donor cells and for determining the risk of relapse. Polymorphic DNA sequences can be used as ...
    • From your nose to your toes: a review of severe acute respiratory syndrome coronavirus 2 pandemic‒associated pernio 

      Arkin, L. M.; Moon, J. J.; Tran, J. M.; Asgari, S.; O'Farrelly, C.; Casanova, J. -L.; Cowen, E. W.; Mays, J. W.; Singh, A. M.; Drolet, B. A.; Aiuti, A.; Belot, A.; Bolze, A.; Bondarenko, A.; Sediva, A.; Shcherbina, A.; Planas, A. M.; Condino-Neto, A.; Pujol, A.; Catherine, B.; Flores, C.; Rodríguez-Gallego, C.; Prando, C.; Dalgard, C. L.; Roger, C.; Mansouri, D.; van, de Beek, D.; Vinh, D. C.; Hsieh, E.; Andreakos, E.; Haerynck, F.; Uddin, F.; Casari, G.; Novelli, G.; Pesole, G.; Meyts, I.; Tancevski, I.; Fellay, J.; Tur, J.; Kisand, K.; Okamoto, K.; Mironska, K.; Abel, L.; Renia, L.; Ng, L. F. P.; Shahrooei, M.; Soler-Palacín, P.; Brodin, P.; Pan-Hammarström, Q.; Halwani, R.; Perez, de Diego, R.; Al-Muhsen, S.; Espinosa-Padilla, S.; Okada, S.; Özçelik, Tayfun; Tayoun, A. A.; Karamitros, T.; Mogensen, T. H.; Lau, Y. L. (Elsevier Ltd, 2021)
      Despite thousands of reported patients with pandemic-associated pernio, low rates of seroconversion and PCR positivity have defied causative linkage to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Pernio ...
    • The genetic structure of the Turkish population reveals high levels of variation and admixture 

      Kars, Meltem Ece; Başak, A. N.; Onat, Onur Emre; Bilguvar, K.; Choi, J.; Itan, Y.; Çağlar, C.; Palvadeau, R.; Casanova, J.-L.; Cooper, D. N.; Stenson, P. D.; Yavuz, A.; Buluş, H.; Günel, M.; Friedman, J. M.; Özçelik, Tayfun (National Academy of Sciences, 2020-12-18)
      The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated ...
    • A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection 

      Casanova, J.-L.; Su, H. C.; Abel, L.; Aiuti, A.; Almuhsen, S.; Arias, A. A.; Bastard, P.; Biggs, C.; Bogunovic, D.; Boisson, B.; Boisson-Dupuis, S.; Bolze, A.; Bondarenko, A.; Bousfiha, A.; Brodin, P.; Bustamante, J.; Butte, M.; Casari, G.; Ciancanelli, M.; Cobat, A.; Condino-Neto, A.; Cooper, M.; Dalgard, C.; Espinosa, S.; Feldman, H.; Fellay, J.; Franco, J. L.; Hagin, D.; Itan, Y.; Jouanguy, E.; Lucas, C.; Mansouri, D.; Meyts, I.; Milner, J.; Mogensen, T.; Morio, T.; Ng, L.; Notarangelo, L. D.; Okada, S.; Özçelik, Tayfun; Palacín, P. S.; Planas, A.; Prando, C.; Puel, A.; Pujol, A.; Redin, C.; Renia, L.; Gallego, J. C. R.; Quintana-Murci, L.; Sancho-Shimizu, V.; Sankaran, V.; Seppänen, M. R. J.; Shahrooei, M.; Snow, A.; Spaan, A.; Tangye, S.; Tur, J. P.; Turvey, S.; Vinh, D. C.; von Bernuth, H.; Wang, X.; Zawadzki, P.; Zhang, Q.; Zhang, S. (Elsevier, 2020)
      SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies ...
    • A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection 

      Andreakos, Evangelos; Abel, Laurent; Vinh, Donald C; Kaja, Elżbieta; Drolet, Beth A.; Zhang, Qian; O'Farrelly, Cliona; Novelli, Giuseppe; Rodríguez-Gallego, Carlos; Haerynck, Filomeen; Prando, Carolina; Pujol, Aurora; Su, Helen C.; Casanova, Jean-Laurent; Spaan, András N; Bastard, Paul; Biggs, Catherine M; Bigio, Benedetta; Boisson, Bertrand; Bolze, Alexandre; Bondarenko, Anastasiia; Brodin, Petter; Chakravorty, Samya; Christodoulou, John; Cobat, Aurelié; Condino-Neto, Antonio; Constantinescu, Stefan N; Feldman, Hagit Baris; Fellay, Jacques; Flores, Carlos; Halwani, Rabih; Jouanguy, Emmanuelle; Lau, Yu-Lung; Meyts, Isabelle; Mogensen, Trine H; Okada, Satoshi; Okamoto, Keisuke; Özçelik, Tayfun; Pan-Hammarström, Qiang; Diego, Rebeca Pérez de; Planas, Anna M; Puel, Anne; Quintana-Murci, Lluis; Renia, Laurent; Resnick, Igor; Sediva, Anna; Shcherbina, Anna; Slaby, Ondrej; Tancevski, Ivan; Turvey, Stuart E; Uddin, K M Furkan; Beek, Diederik van de; Zatz, Mayana; Zawadzki, Pawel (Springer Nature, 2021-10-18)
      SARS-CoV-2 infections display tremendous interindividual variability, ranging from asymptomatic infections to life-threatening disease. Inborn errors of, and autoantibodies directed against, type I interferons (IFNs) account ...
    • Homozygosity mapping and targeted genomic sequencing reveal the game responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred 

      Gulsuner, Süleyman; Tekinay, Ayşe Begüm; Doerschner, Katja; Boyaci, Hüseyin; Bilguvar, K.; Ünal, Hilal; Örs, Aslıhan; Onat, O. Emre; Atalar, Ergin; Basak, A. N.; Topaloglu, H.; Kansu, T.; Tan, M.; Tan, U.; Gunel, M.; Özçelik, Tayfun (Cold Spring Harbor Laboratory Press, 2011)
      The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely ...
    • Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks 

      Ürgen, Buse M.; Topaç, Yasemin; Üstün, F. Seyhun; Demirayak, Pınar; Oğuz, Kader K.; Kansu, T.; Saygı, S.; Özçelik, Tayfun; Boyacı, Hüseyin; Doerschner, Katja (Elsevier, 2019)
      The occipital lobe contains a substantial part of the neural machinery involved in visual perception. Mutations in the LAMC3 gene have recently been shown to cause complex bilateral occipital cortical gyration abnormalities. ...
    • Human CRY1 variants associate with attention deficit/hyperactivity disorder 

      Onat, O. Emre; Kars, M. Ece; Gül, Ş.; Bilguvar, K.; Wu, Y.; Özhan, Ayşe; Aydın, C.; Başak, A. N.; Trusso, M. A.; Goracci, A.; Fallerini, C.; Renieri, A.; Casanova, J-L.; Itan, Y.; Atbaşoğlu, C. E.; Saka, M. C.; Kavaklı, İ. H.; Özçelik, Tayfun (American Society for Clinical Investigation, 2020)
      Attention deficit/hyperactivity disorder (ADHD) is a common and heritable phenotype frequently accompanied by insomnia, anxiety, and depression. Here, using a reverse phenotyping approach, we report heterozygous coding ...
    • Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance 

      Asano, T.; Khourieh, J.; Zhang, P.; Rapaport, F.; Spaan, A. N.; Li, J.; Lei, W. T.; Pelham, S. J.; Hum, D.; Chrabieh, M.; Han, J. E.; Guérin, A.; Mackie, J.; Gupta, S.; Saikia, B.; Baghdadi, J. E. I.; Fadil, I.; Bousfiha, A.; Habib, T.; Marr, N.; Ganeshanandan, L.; Peake, J.; Droney, L.; Williams, A.; Celmeli, F.; Hatipoglu, N.; Özçelik, Tayfun; Picard, C. (Rockefeller University Press, 2021-06-17)
      Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it ...
    • Identification of a novel missense mutation in RAD51 in a large family with congenital mirror movements 

      Onat, Onur Emre; Gülsüner, Süleyman; Bilgen, R.; Dal, G. M.; Bilguvar, K.; Boyacı, Hüseyin; Doerschner, Katja; Uysal, H.; Günel, M.; Özçelik, Tayfun (American Society of Human Genetics, 2012-11)
      Congenital mirror movements (CMM) are a rare and heterogeneous group of disorders characterized by involuntary contralateral movements of mainly the upper extremities during intentional movements on the opposite side. ...
    • Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 

      Zhang, Q.; Liu, Z.; Moncada-Velez, M.; Chen, J.; Ogishi, M.; Bigio, B.; Yang, R.; Arias, A. A.; Zhou, Q.; Han, J. E.; Özçelik, Tayfun; Uğurbil, A. C.; Zhang, P.; Rapaport, F.; Li, J.; Spaan, A. N. (American Association for the Advancement of Science, 2020)
      Clinical outcomes of human severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection range from silent infection to lethal coronavirus disease 2019 (COVID-19). Epidemiological studies have identified three ...
    • Mitochondrial serine protease HTRA2 p.G3999S in a kindred with essential tremor and Parkinson disease 

      Gülümser, Hilal Ünal; Gulsuner, S.; Mercan, F. N.; Onat, Onur Emre; Walsh, T.; Shahin, H.; Lee, M. K.; Dogu, O.; Kansu, T.; Topaloglu, H.; Elibol, B.; Akbostanci, C.; King, M. C.; Özçelik, Tayfun; Tekinay, Ayşe B. (National Academy of Sciences, 2014)
      Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the ...
    • Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases 

      Akar, Ö. S.; Güneş, S.; Abur, U.; Altundağ, E.; Aşçı, R.; Onat, Onur Emre; Özçelik, Tayfun; Oğur, G. (Wiley, 2020-06-04)
      46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype ...
    • An observational study investigating the CRY1Δ11 variant associated with delayed sleep–wake patterns and circadian metabolic output 

      Smieszek, S. P.; Brzezynski, J. L.; Kaden, A. R.; Shinn, J. A.; Wang, J.; Xiao, C.; Polymeropoulos, C.; Özçelik, Tayfun; Polymeropoulos, M. H. (Nature Publishing Group, 2021-10-11)
      We conducted an observational research study to collect information on sleep–wake patterns from participants with a confirmed status of the cryptochrome circadian clock 1 (CRY1) splicing variant, CRY1Δ11 c.1657 + 3A > C, ...