Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

Por Esmer, Aytul Çorbacıoğlu, Kalelioğlu, İbrahim, Kayserili, Hülya, Yüksel, Atıl, Has, Recep
Publicado em 2013

Opsismodysplasia resulting from an insertion mutation in the SH2 domain which destabilizes INPPL1

Por Li, Bing, Krakow, Deborah, Nickerson, Deborah A., Bamshad, Michael J., Chang, Yong, Lachman, Ralph S., Yilmaz, Alev, Kayserili, Hülya, Cohn, Daniel H.
Publicado em 2014

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Por Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Publicado em 2013

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Por Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Publicado em 2002

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children

Por Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza, Uyguner, Oya, Günöz, Hülya, Yüksel Apak, Memnune, Atalar, Fatmahan, Bundak, Rüveyde, Wilson, Robert C., New, Maria I., Wollnik, Bernd, Saka, Nurçin
Publicado em 2009

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

Por Cain, Corey J., Gaborit, Nathalie, Lwin, Wint, Barruet, Emilie, Ho, Samantha, Bonnard, Carine, Hamamy, Hanan, Shboul, Mohammad, Reversade, Bruno, Kayserili, Hülya, Bruneau, Benoit G., Hsiao, Edward C.
Publicado no Bone Rep (2016)

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Por Kalay, Ersan, Sezgin, Orhan, Chellappa, Vasant, Mutlu, Mehmet, Morsy, Heba, Kayserili, Hulya, Kreiger, Elmar, Cansu, Aysegul, Toraman, Bayram, Abdalla, Ebtesam Mohammed, Aslan, Yakup, Pillai, Shiv, Akarsu, Nurten A.
Publicado em 2012

Candidate Locus Analysis for PHACE Syndrome

Por Mitchell, Sheri, Siegel, Dawn H., Shieh, Joseph T., Stevenson, David A., Grimmer, J. Fredrik, Lewis, Tracey, Metry, Denise, Frieden, Ilona, Blei, Francine, Kayserili, Hulya, Drolet, Beth A., Bayrak-Toydemir, Pinar
Publicado em 2012

Teratogenicity of Antiepileptic Drugs

Por Güveli, Betül Tekin, Rosti, Rasim Özgür, Güzeltaş, Alper, Tuna, Elif Bahar, Ataklı, Dilek, Sencer, Serra, Yekeler, Ensar, Kayserili, Hülya, Dirican, Ahmet, Bebek, Nerses, Baykan, Betül, Gökyiğit, Ayşen, Gürses, Candan
Publicado no Clin Psychopharmacol Neurosci (2017)

A large duplication involving the IHH locus mimics acrocallosal syndrome

Por Yuksel-Apak, Memnune, Bögershausen, Nina, Pawlik, Barbara, Li, Yun, Apak, Selcuk, Uyguner, Oya, Milz, Esther, Nürnberg, Gudrun, Karaman, Birsen, Gülgören, Ayan, Grzeschik, Karl-Heinz, Nürnberg, Peter, Kayserili, Hülya, Wollnik, Bernd
Publicado em 2012

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Por Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.
Publicado em 2004

Mutations in CDK5RAP2 cause Seckel syndrome

Por Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Publicado no Mol Genet Genomic Med (2015)

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Por Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa
Publicado no Orphanet J Rare Dis (2015)

Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping

Por Harville, Heather M., Held, Susanne, Diaz-Font, Anna, Davis, Erica E., Diplas, Bill H., Lewis, Richard A., Borochowitz, Zvi, Zhou, Weibin, Chaki, Moumita, MacDonald, Jim, Kayserili, Hulya, Beales, Philip L., Katsanis, Nicholas, Otto, Edgar, Hildebrandt, Friedhelm
Publicado em 2009

Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Por Dowling, Oonagh, Difeo, Analisa, Ramirez, Maria C., Tukel, Turgut, Narla, Goutham, Bonafe, Luisa, Kayserili, Hulya, Yuksel-Apak, Memnune, Paller, Amy S., Norton, Karen, Teebi, Ahmad S., Grum-Tokars, Valerie, Martin, Gail S., Davis, George E., Glucksman, Marc J., Martignetti, John A.
Publicado em 2003

Responsible implementation of expanded carrier screening

Por Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut
Publicado no Eur J Hum Genet (2016)

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Por Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.
Publicado em 2002

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Por Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan
Publicado no Cell (2015)

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Por Severin, Franziska, Borry, Pascal, Cornel, Martina C, Daniels, Norman, Fellmann, Florence, Victoria Hodgson, Shirley, Howard, Heidi C, John, Jürgen, Kääriäinen, Helena, Kayserili, Hülya, Kent, Alastair, Koerber, Florian, Kristoffersson, Ulf, Kroese, Mark, Lewis, Celine, Marckmann, Georg, Meyer, Peter, Pfeufer, Arne, Schmidtke, Jörg, Skirton, Heather, Tranebjærg, Lisbeth, Rogowski, Wolf H
Publicado no Eur J Hum Genet (2015)

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Por Oud, Machteld M., Bonnard, Carine, Mans, Dorus A., Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C. Anthony, de Wagenaar, Nathalie P., Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J., Nelson, Stanley F., Hegele, Robert A., Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M., Reversade, Bruno, Arts, Heleen H.
Publicado no Cilia (2016)