Whole Exome Sequencing in Nervous System Disorders

Por Bilguvar, Kaya
Publicado em 2013

Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development

Por Nishimura, Sayoko, Bilgüvar, Kaya, Ishigame, Keiko, Sestan, Nenad, Günel, Murat, Louvi, Angeliki
Publicado no PLoS One (2015)

Somatic V600E BRAF mutation in linear and sporadic syringocystadenoma papilliferum

Por Levinsohn, Jonathan L., Sugarman, Jeffrey L., Bilguvar, Kaya, McNiff, Jennifer M., Choate, Keith A.
Publicado no J Invest Dermatol (2015)

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Por Emre Onat, Onur, Gulsuner, Suleyman, Bilguvar, Kaya, Nazli Basak, Ayse, Topaloglu, Haluk, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun
Publicado em 2013

COL4A1 Mutation in Preterm Intraventricular Hemorrhage

Por Bilguvar, Kaya, DiLuna, Michael L., Bizzarro, Matthew J., Bayri, Yasar, Schneider, Karen C., Lifton, Richard P., Gunel, Murat, Ment, Laura R.
Publicado em 2009

Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk

Por Zito, Giovanni, Saotome, Ichiko, Liu, Zongzhi, Ferro, Enrico G., Sun, Thomas Y., Nguyen, Don X., Bilguvar, Kaya, Ko, Christine J., Greco, Valentina
Publicado em 2014

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

Por Vilarinho, Sílvia, Sari, Sinan, Mazzacuva, Francesca, Bilgüvar, Kaya, Esendagli-Yilmaz, Güldal, Jain, Dhanpat, Akyol, Gülen, Dalgiç, Buket, Günel, Murat, Clayton, Peter T., Lifton, Richard P.
Publicado no Proc Natl Acad Sci U S A (2016)

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

Por Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.
Publicado no J Invest Dermatol (2014)

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

Por Çağlayan, Ahmet Okay, Tüysüz, Beyhan, Coşkun, Süleyman, Quon, Jennifer, Harmanci, Akdes Serin, Baranoski, Jacob F., Baran, Burçin, Erson-Omay, E. Zeynep, Henegariu, Octavian, Mane, Shrikant M., Bilgüvar, Kaya, Yasuno, Katsuhito, Günel, Murat
Publicado no J Hum Genet (2016)

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Por Salih, Mustafa A., Seidahmed, Mohammed Z., El Khashab, Heba Y., Hamad, Muddathir H. A., Bosley, Thomas M., Burn, Sabrina, Myers, Angela, Landsverk, Megan L., Crotwell, Patricia L., Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C.
Publicado no Tremor Other Hyperkinet Mov (N Y) (2015)

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

Por Gulsuner, Suleyman, Tekinay, Ayse Begum, Doerschner, Katja, Boyaci, Huseyin, Bilguvar, Kaya, Unal, Hilal, Ors, Aslihan, Onat, O. Emre, Atalar, Ergin, Basak, A. Nazli, Topaloglu, Haluk, Kansu, Tulay, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun
Publicado em 2011

Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma

Por Bi, Mark, Zhao, Siming, Said, Jonathan W., Merino, Maria J., Adeniran, Adebowale J., Xie, Zuoquan, Nawaf, Cayce B., Choi, Jaehyuk, Belldegrun, Arie S., Pantuck, Allan J., Kluger, Harriet M., Bilgüvar, Kaya, Lifton, Richard P., Shuch, Brian
Publicado no Proc Natl Acad Sci U S A (2016)

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Por Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar, Kaya, Dobyns, William B., Zaki, Maha S., Gunel, Murat, Gleeson, Joseph G.
Publicado em 2013

GENO-15 IDENTIFICATION AND GENOMIC ANALYSIS OF HYPER-MUTATED AND ULTRA-MUTATED GBMS

Por Erson-Omay, E. Zeynep, Schultz, Nikolaus, Omay, S. Bulent, Ozduman, Koray, Harmanci, Akdes Serin, Clark, Victoria, Baranoski, Jacob, Gunel, Jennifer Moliterno, Pamir, M. Necmettin, Bilguvar, Kaya, Yasuno, Katsuhito, Vortmeyer, Alexander, Huttner, Anita J., Sander, Chris, Gunel, Murat
Publicado no Neuro Oncol (2015)

NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy

Por Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Omay, E. Zeynep Erson, Harmanci, Akdes Serin, Mishra, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat
Publicado no Eur J Med Genet (2014)

Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans

Por Han, Jinah, Calvo, Charles-Félix, Kang, Tae Hyuk, Baker, Kasey L., Park, June-Hee, Parras, Carlos, Levittas, Marine, Birba, Ulrick, Pibouin-Fragner, Laurence, Fragner, Pascal, Bilguvar, Kaya, Duman, Ronald S., Nurmi, Harri, Alitalo, Kari, Eichmann, Anne C., Thomas, Jean-Léon
Publicado no Cell Rep (2015)

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

Por Duran, Daniel, Jin, Sheng Chih, DeSpenza, Tyrone, Nelson-Williams, Carol, Cogal, Andrea G, Abrash, Elizabeth W, Harris, Peter C, Lieske, John C, Shimshak, Serena JE, Mane, Shrikant, Bilguvar, Kaya, DiLuna, Michael L, Günel, Murat, Lifton, Richard P, Kahle, Kristopher T
Publicado no Hum Genome Var (2016)

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Por Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Han, Min-Joon, Torres, Alcy, Berry, Gerard T., Yu, Timothy W., Beggs, Alan H., Agrawal, Pankaj B., Gonzalez-Heydrich, Joseph
Publicado no Cold Spring Harb Mol Case Stud (2016)

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

Por Bilguvar, Kaya, Tyagi, Navneet K., Ozkara, Cigdem, Tuysuz, Beyhan, Bakircioglu, Mehmet, Choi, Murim, Delil, Sakir, Caglayan, Ahmet O., Baranoski, Jacob F., Erturk, Ozdem, Yalcinkaya, Cengiz, Karacorlu, Murat, Dincer, Alp, Johnson, Michele H., Mane, Shrikant, Chandra, Sreeganga S., Louvi, Angeliki, Boggon, Titus J., Lifton, Richard P., Horwich, Arthur L., Gunel, Murat
Publicado em 2013

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Por Ercan-Sencicek, A Gulhan, Jambi, Samira, Franjic, Daniel, Nishimura, Sayoko, Li, Mingfeng, El-Fishawy, Paul, Morgan, Thomas M, Sanders, Stephan J, Bilguvar, Kaya, Suri, Mohnish, Johnson, Michele H, Gupta, Abha R, Yuksel, Zafer, Mane, Shrikant, Grigorenko, Elena, Picciotto, Marina, Alberts, Arthur S, Gunel, Murat, Šestan, Nenad, State, Matthew W
Publicado no Eur J Hum Genet (2015)