Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Wooderchak-Donahue, Whitney L., Akay, Gulsen, Whitehead, Kevin, Briggs, Eric, Stevenson, David A., O’Fallon, Brendan, Velinder, Matthew, Farrell, Andrew, Shen, Wei, Bedoukian, Emma, Skrabann, Cara M., Antaya, Richard J., Henderson, Kate, Pollak, Jeffrey, Treat, James, Day, Ronald, Jacher, Joseph E., Hannibal, Mark, Bontempo, Kelly, Marth, Gabor, Bayrak-Toydemir, Pinar, McDonald, Jamie
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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P096: QRICH1-related disorder: Phenotype expansion vs blended phenotype
Akay, Gulsen, Taliercio, Vanina, Palumbos, Janice, Viskochil, David
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M, Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W, Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A, Boerwinkle, Eric, Gibbs, Richard A, Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R
Published in The Journal of clinical investigation (01.02.2016)
Published in The Journal of clinical investigation (01.02.2016)
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Journal Article
Risk of sudden cardiac death in EXOSC5‐related disease
Calame, Daniel G., Herman, Isabella, Fatih, Jawid M., Du, Haowei, Akay, Gulsen, Jhangiani, Shalini N., Coban‐Akdemir, Zeynep, Milewicz, Dianna M., Gibbs, Richard A., Posey, Jennifer E., Marafi, Dana, Hunter, Jill V., Fan, Yuxin, Lupski, James R., Miyake, Christina Y.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
Wooderchak-Donahue, Whitney L., McDonald, Jamie, Farrell, Andrew, Akay, Gulsen, Velinder, Matt, Johnson, Peter, VanSant-Webb, Chad, Margraf, Rebecca, Briggs, Eric, Whitehead, Kevin J, Thomson, Jennifer, Lin, Angela E, Pyeritz, Reed E, Marth, Gabor, Bayrak-Toydemir, Pinar
Published in Journal of medical genetics (01.12.2018)
Published in Journal of medical genetics (01.12.2018)
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Journal Article
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
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.
Published in HGG advances (13.10.2022)
Published in HGG advances (13.10.2022)
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Journal Article
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms
Huang, Yan, Ma, Mengqi, Mao, Xiao, Pehlivan, Davut, Kanca, Oguz, Un-Candan, Feride, Shu, Li, Akay, Gulsen, Mitani, Tadahiro, Lu, Shenzhao, Candan, Sukru, Wang, Hua, Xiao, Bo, Lupski, James R, Bellen, Hugo J
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
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Journal Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Journal Article
MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J Austin, Akay, Gulsen, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura, van Eerde, Albertien M, Wagner, Timo, Bergmann, Carsten, Buchan, Jillian, Wegner, Tara, Posey, Jennifer, Lupski, James R, Petit, Florence, Mccarthy, Andrew A, Pazour, Gregory J, Lo, Cecilia W, Popp, Bernt, Halbritter, Jan
Published in Nephrology, dialysis, transplantation (03.05.2022)
Published in Nephrology, dialysis, transplantation (03.05.2022)
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Journal Article
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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Journal Article
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J. Austin, Hartig, Christin, Hantmann, Elena, Akay, Gulsen, Pehlivan, Davut, Mitani, Tadahiro, Coban Akdemir, Zeynep, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura R., van Eerde, Albertien M., Smol, Thomas, Devisme, Louise, Franquet, Hélène, Attié-Bitach, Tania, Wagner, Timo, Bergmann, Carsten, Höhn, Anne Kathrin, Shril, Shirlee, Pollack, Ari, Wenger, Tara, Scott, Abbey A., Paolucci, Sarah, Buchan, Jillian, Gabriel, George C., Posey, Jennifer E., Lupski, James R., Petit, Florence, McCarthy, Andrew A., Pazour, Gregory J., Lo, Cecilia W., Popp, Bernt, Halbritter, Jan
Published in Kidney international (01.05.2022)
Published in Kidney international (01.05.2022)
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Journal Article
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
Di Gioia, Silvio Alessandro, Shaaban, Sherin, Tüysüz, Beyhan, Elcioglu, Nursel H., Chan, Wai-Man, Robson, Caroline D., Ecklund, Kirsten, Gilette, Nicole M., Hamzaoglu, Azmi, Tayfun, Gulsen Akay, Traboulsi, Elias I., Engle, Elizabeth C.
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
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Journal Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family
Taşdelen, Elifcan, Calame, Daniel G., Akay, Gulsen, Mitani, Tadahiro, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Coban‐Akdemir, Zeynep, Marafi, Dana, Jhangiani, Shalini N., Posey, Jennifer E., Gibbs, Richard A., Altıparmak, Taylan, Kutlay, Nüket Yürür, Lupski, James R., Pehlivan, Davut
Published in American journal of medical genetics. Part A (01.07.2022)
Published in American journal of medical genetics. Part A (01.07.2022)
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Journal Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
Dawood, Moez, Akay, Gulsen, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Gezdirici, Alper, Najmabadi, Hossein, Kahrizi, Kimia, Punetha, Jaya, Grochowski, Christopher M., Du, Haowei, Jolly, Angad, Li, He, Coban‐Akdemir, Zeynep, Sedlazeck, Fritz J., Hunter, Jill V., Jhangiani, Shalini N., Muzny, Donna, Pehlivan, Davut, Posey, Jennifer E., Carvalho, Claudia M. B., Gibbs, Richard A., Lupski, James R.
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Journal Article
Different Genotypes in Prader-Willi Syndrome
Demirkol, Yasemin Kendir, Tayfun, Gülsen Akay, Elçioglu, Huriye Nursel
Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
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Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
Journal Article
Four Cases of SCD (Jarcho-Levin Syndrome) Presenting with Short Stature
Aras, Seda, Tayfun, Gülsen Akay, Elçioglu, Huriye Nursel
Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
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Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
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Nonkardiyojenik pulmoner ödem: Olgu sunumu
ÖZYAZICI, Elif, TAYFUN, Gülsen Akay, KULA, Serdar, KİRKİZ, Serap
Published in Gazi tıp dergisi (2008)
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Published in Gazi tıp dergisi (2008)
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