One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome

por Ocal, F Ceyda Akin, Kavus, Haluk, Satar, Bulent, Pehli̇van, Davut
Publicado 2022

Metastasis: Genetics, Mechanism, and Diagnostic and Therapeutic Strategies

por Gunduz, Mehmet, Gunduz, Esra, Beder, Levent, Pehlivan, Davut, Hatipoglu, Omer Faruk, Kachhap, Sushant, Grenman, Reidar
Publicado 2012

The role of GSTM1 gene polymorphisms in lung cancer development in Turkish population

por Demir, Adalet, Altin, Sedat, Pehlivan, Davut, Demir, Mulahim, Yakar, Fatih, Seyhan, Ekrem Cengiz, Dincer, Seyyit Ibrahim
Publicado 2007

Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures

por Ak, Muharrem, Suter, Bernhard, Akturk, Zekeriya, Harris, Holly, Bowyer, Kristina, Mignon, Laurence, Pasupuleti, Sasidhar, Glaze, Daniel G., Pehlivan, Davut
Publicado 2022

Replicative mechanisms for CNV formation are error prone

por Carvalho, Claudia M. B., Pehlivan, Davut, Ramocki, Melissa B., Fang, Ping, Alleva, Benjamin, Franco, Luis M., Belmont, John W., Hastings, P. J., Lupski, James R.
Publicado 2013

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

por Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai
Publicado 2012

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

por Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.
Publicado 2021

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

por Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Publicado 2018

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

por Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.
Publicado 2019

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

por Calame, Daniel G., Fatih, Jawid M., Herman, Isabella, Coban‐Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Jhangiani, Shalini N., Marafi, Dana, Gibbs, Richard A., Posey, Jennifer E., Mehta, Vidya P., Mohila, Carrie A., Abid, Farida, Lotze, Timothy E., Pehlivan, Davut, Adesina, Adekunle M., Lupski, James R.
Publicado 2021

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

por Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Yilmaz Gulec, Elif, Duan, Ruizhi, Fatih, Jawid M., Marafi, Dana, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Maqbool, Shazia, Lupski, James R., Houlden, Henry
Publicado 2021

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

por Carvalho, Claudia M. B., Ramocki, Melissa B., Pehlivan, Davut, Franco, Luis M., Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie, Friehling, Linda, Lee, Sansan, Smith, Rosemarie, del Gaudio, Daniela, Withers, Marjorie, Liu, Pengfei, Cheung, Sau Wai, Belmont, John W., Zoghbi, Huda Y., Hastings, P. J., Lupski, James R.
Publicado 2011

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

por Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.
Publicado 2020

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

por Hansen, Adam W., Arora, Payal, Khayat, Michael M., Smith, Leah J., Lewis, Andrea M., Rossetti, Linda Z., Jayaseelan, Joy, Cristian, Ingrid, Haynes, Devon, DiTroia, Stephanie, Meeks, Naomi, Delgado, Mauricio R., Rosenfeld, Jill A., Pais, Lynn, White, Susan M., Meng, Qingchang, Pehlivan, Davut, Liu, Pengfei, Gingras, Marie-Claude, Wangler, Michael F., Muzny, Donna M., Lupski, James R., Kaplan, Craig D., Gibbs, Richard A.
Publicado 2020

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

por Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Haral, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.
Publicado 2020

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

por Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.
Publicado 2020

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

por Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.
Publicado 2022

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

por Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.
Publicado 2022

Loss of Non-motor Kinesin KIF26A Causes Congenital Brain Malformations via Dysregulated Neuronal Migration and Axonal Growth as well as Apoptosis

por Qian, Xuyu, DeGennaro, Ellen M., Talukdar, Maya, Akula, Shyam K., Lai, Abbe, Shao, Diane D., Gonzalez, Dilenny, Marciano, Jack H., Smith, Richard S., Hylton, Norma K., Yang, Edward, Bazan, J. Fernando, Barrett, Lee, Yeh, Rebecca C., Hill, R Sean, Beck, Samantha, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E., Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C., Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S., Barnett, Christopher P., Arts, Peer, Sherr, Elliott H., Lupski, James R., Walsh, Christopher A.
Publicado 2022

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

por Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.
Publicado 2020