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H

Hülya Kayserili

Istanbul University
H指数:71
被引数:2.0万

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Cascade counselling and testing. Recommendations of the European Society of Human Genetics

级联咨询与检测。欧洲人类遗传学会建议

European Journal of Human Genetics
IF4.6
2025-12-140
OAAI
Guido de Wert; Carla G. van El; Angus Clarke; Christophe Cordier; Florence Fellmann; Maurizio Genuardi; Sabine Hentze; Hülya Kayserili; Milan Macek; Rhona MacLeod; Béla Melegh; Álvaro Mendes; Emmanuelle Rial-Sebbag; Vigdís Stefánsdóttir; Lisbeth Tranebjærg; Fiona Ulph; Francesca Forzano
Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability

3-M综合征长期随访的生长和青春期发育：生长激素治疗的效果及反应变异性

Endocrine
IF2.9
2025-09-200
PRE
Ayse Pinar Ozturk; Ayca Dilruba Aslanger; Umut Altunoglu; Cagri Gulec; Esin Karakilic Ozturan; Volkan Karaman; Elif Yilmaz Gulec; Alper Gezdirici; Gozde Yesil; Guven Toksoy; Melek Yildiz; Sukran Poyrazoglu; Firdevs Bas; Zehra Oya Uyguner; Hulya Kayserili; Feyza Darendeliler
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017)

ACTRT1及其增强子RNA元件的突变导致遗传性和散发性基底细胞癌中Hedgehog信号通路的异常激活（卷23，页1226，2017）。

NATURE MEDICINE
IF50
2025-02-060
PRE
Bal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Huelya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim oezguer; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Crollius, Hugues Roest; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma
ARTICLE DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
GENETICS IN MEDICINE
IF6.2
2024-07-010
PRE
Lavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-03-261
PRE
Altunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-03-1212
OAAI
Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C.
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
EMBO MOLECULAR MEDICINE
IF8.3
2023-10-061
OAAI
Theil, Arjan F.; Pines, Alex; Kalayci, Tugba; Heredia-Genestar, Jose M.; Raams, Anja; Rietveld, Marion H.; Sridharan, Sriram; Tanis, Sabine E. J.; Mulder, Klaas W.; Bueyuekbabani, Nesimi; Karaman, Birsen; Uyguner, Zehra O.; Kayserili, Huelya; Hoeijmakers, Jan H. J.; Lans, Hannes; Demmers, Jeroen A. A.; Pothof, Joris; Altunoglu, Umut; El Ghalbzouri, Abdoelwaheb; Vermeulen, Wim
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
DIABETES OBESITY & METABOLISM
IF5.7
2023-04-1111
OA
Yildirim Simsir, Ilgin; Tuysuz, Beyhan; Ozbek, Mehmet Nuri; Tanrikulu, Seher; Celik Guler, Merve; Karhan, Asuman Nur; Denkboy Ongen, Yasemin; Gunes, Nilay; Soyaltin, Utku Erdem; Altay, Canan; Nur, Banu; Ozalkak, Servan; Akgun Dogan, Ozlem; Dursun, Fatma; Pekkolay, Zafer; Eren, Mehmet Ali; Usta, Yusuf; Ozisik, Secil; Ozgen Saydam, Basak; Adiyaman, Suleyman Cem; Unal, Mehmet Cagri; Gungor Semiz, Gokcen; Turan, Ihsan; Eren, Erdal; Kayserili, Hulya; Jeru, Isabelle; Vigouroux, Corinne; Atik, Tahir; Onay, Huseyin; Ozen, Samim; Arioglu Oral, Elif; Akinci, Baris
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

DPP9缺乏症: 一种可以通过降低NLRP1/IL-1信号来挽救的炎症性疾病

SCIENCE IMMUNOLOGY
IF16.3
2022-09-3020
OA
Harapas, Cassandra R.; Robinson, Kim S.; Lay, Kenneth; Wong, Jasmine; Traspas, Ricardo Moreno; Nabavizadeh, Nasrin; Rass-Rothschild, Annick; Boisson, Bertrand; Drutman, Scott B.; Laohamonthonkul, Pawat; Bonner, Devon; Xiong, Jingwei Rachel; Gorrell, Mark D.; Davidson, Sophia; Yu, Chien-Hsiung; Fleming, Mark D.; Gudera, Jonas; Stein, Jerry; Ben-Harosh, Miriam; Groopman, Emily; Shimamura, Akiko; Tamary, Hannah; Kayserili, Hulya; Hatipoglu, Nevin; Casanova, Jean-Laurent; Bernstein, Jonathan A.; Zhong, Franklin L.; Masters, Seth L.; Reversade, Bruno
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
NATURE GENETICS
IF31.8
2022-07-219
OA
Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin Wu; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
HUMAN MUTATION
IF3.7
2022-05-1011
OA
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
HUMAN MOLECULAR GENETICS
IF3.2
2022-03-2610
OAAI
Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A.; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hulya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B.; Thomas-Teinturier, Cecile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; Cave, Helene; Hertog, Jeroen; Tartaglia, Marco
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009)
NATURE GENETICS
IF31.8
2022-01-212
OA
Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-0114
OAAI
Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno

研究方向

暂未获取到该数据
B
Bernd Wollnik
H 指数:64论文数:295被引数:1.3万
U
Umut Altunoğlu
H 指数:26论文数:147被引数:2,816
Z
Zehra Oya Uyguner
H 指数:27论文数:200被引数:2,379
B
Bruno Reversade
H 指数:55论文数:281被引数:1.0万
P
Peter Nürnberg
H 指数:127论文数:759被引数:5.9万
N
Nursel Elçioğlu
H 指数:37论文数:139被引数:6,256
B
Beyhan Tüysüz
H 指数:44论文数:257被引数:7,643
Y
Yasemin Alanay
H 指数:50论文数:229被引数:7,387
R
Raoul C. M. Hennekam
H 指数:107论文数:846被引数:4.6万
L
Lihadh Al‐Gazali
H 指数:58论文数:199被引数:1.3万