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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Published in:
2017
By:
- Zollo, Massimo;
- Ahmed, Mustafa;
- Ferrucci, Veronica;
- Salpietro, Vincenzo;
- Asadzadeh, Fatemeh;
- Carotenuto, Marianeve;
- Maroofian, Reza;
- Al-Amri, Ahmed;
- Singh, Royana;
- Scognamiglio, Iolanda;
- Mojarrad, Majid;
- Musella, Luca;
- Duilio, Angela;
- Di Somma, Angela;
- Karaca, Ender;
- Rajab, Anna;
- Al-Khayat, Aisha;
- Mohapatra, Tribhuvan Mohan;
- Eslahi, Atieh;
- Ashrafzadeh, Farah
Publication type:
journal article
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 2, p. 636, doi. 10.1172/JCI77435
By:
- Bo Yuan;
- Pehlivan, Davut;
- Karaca, Ender;
- Patel, Nisha;
- Wu-Lin Charng;
- Gambin, Tomasz;
- Gonzaga-Jauregui, Claudia;
- Sutton, V. Reid;
- Yesil, Gozde;
- Bozdogan, Sevcan Tug;
- Tos, Tulay;
- Koparir, Asuman;
- Koparir, Erkan;
- Beck, Christine R.;
- Shen Gu;
- Aslan, Huseyin;
- Yuregir, Ozge Ozalp;
- Al Rubeaan, Khalid;
- Alnaqeb, Dhekra;
- Alshammari, Muneera J.
Publication type:
Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Published in:
Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
By:
- Gambin, Tomasz;
- Akdemir, Zeynep C.;
- Bo Yuan;
- Shen Gu;
- Chiang, Theodore;
- Carvalho, Claudia M. B.;
- Shaw, Chad;
- Jhangiani, Shalini;
- Boone, Philip M.;
- Eldomery, Mohammad K.;
- Karaca, Ender;
- Bayram, Yavuz;
- Stray-Pedersen, Asbjørg;
- Muzny, Donna;
- Wu-Lin Charng;
- Bahrambeigi, Vahid;
- Belmont, John W.;
- Boerwinkle, Eric;
- Beaudet, Arthur L.;
- Gibbs, Richard A.
Publication type:
Article
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
By:
- Karaca, Ender;
- Posey, Jennifer E.;
- Bostwick, Bret;
- Liu, Pengfei;
- Gezdirici, Alper;
- Yesil, Gozde;
- Coban Akdemir, Zeynep;
- Bayram, Yavuz;
- Harms, Frederike L.;
- Meinecke, Peter;
- Alawi, Malik;
- Bacino, Carlos A.;
- Sutton, V. Reid;
- Kortüm, Fanny;
- Lupski, James R.
Publication type:
Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263
By:
- Karaca, Ender;
- Yuregir, Ozge O.;
- Bozdogan, Sevcan T.;
- Aslan, Huseyin;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Akdemir, Zeynep C.;
- Gambin, Tomasz;
- Bayram, Yavuz;
- Atik, Mehmed M.;
- Erdin, Serkan;
- Muzny, Donna;
- Gibbs, Richard A.;
- Lupski, James R.
Publication type:
Article
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2132, doi. 10.1002/ajmg.a.37092
By:
- Bayram, Yavuz;
- Aydin, Hatip;
- Gambin, Tomasz;
- Akdemir, Zeynep Coban;
- Atik, Mehmed M.;
- Karaca, Ender;
- Karaman, Ali;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Lupski, James R.
Publication type:
Article
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2328, doi. 10.1002/ajmg.a.36678
By:
- Bayram, Yavuz;
- Pehlivan, Davut;
- Karaca, Ender;
- Gambin, Tomasz;
- Jhangiani, Shalini N.;
- Erdin, Serkan;
- Gonzaga‐Jauregui, Claudia;
- Wiszniewski, Wojciech;
- Muzny, Donna;
- Elcioglu, Nursel H.;
- Yildirim, M. Selman;
- Bozkurt, Banu;
- Zamani, Ayse Gul;
- Boerwinkle, Eric;
- Gibbs, Richard A.;
- Lupski, James R.
Publication type:
Article
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Published in:
2015
By:
- Bayram, Yavuz;
- Gulsuner, Suleyman;
- Guran, Tulay;
- Abaci, Ayhan;
- Yesil, Gozde;
- Gulsuner, Hilal Unal;
- Atay, Zeynep;
- Pierce, Sarah B;
- Gambin, Tomasz;
- Lee, Ming;
- Turan, Serap;
- Bober, Ece;
- Atik, Mehmed M;
- Walsh, Tom;
- Karaca, Ender;
- Pehlivan, Davut;
- Jhangiani, Shalini N;
- Muzny, Donna;
- Bereket, Abdullah;
- Buyukgebiz, Atilla
Publication type:
journal article
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 671, doi. 10.1007/s00439-015-1548-3
By:
- Pehlivan, Davut;
- Coban Akdemir, Zeynep;
- Karaca, Ender;
- Bayram, Yavuz;
- Jhangiani, Shalini;
- Yildiz, Edibe Pembegul;
- Muzny, Donna;
- Uluc, Kayihan;
- Gibbs, Richard;
- Elcioglu, Nursel;
- Lupski, James;
- Harel, Tamar
Publication type:
Article
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07953-w
By:
- Siekierska, Aleksandra;
- Stamberger, Hannah;
- Deconinck, Tine;
- Oprescu, Stephanie N.;
- Partoens, Michèle;
- Zhang, Yifan;
- Sourbron, Jo;
- Adriaenssens, Elias;
- Mullen, Patrick;
- Wiencek, Patrick;
- Hardies, Katia;
- Lee, Jeong-Soo;
- Giong, Hoi-Khoanh;
- Distelmaier, Felix;
- Elpeleg, Orly;
- Helbig, Katherine L.;
- Hersh, Joseph;
- Isikay, Sedat;
- Jordan, Elizabeth;
- Karaca, Ender
Publication type:
Article
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1145, doi. 10.1038/ejhg.2013.291
By:
- Pehlivan, Davut;
- Karaca, Ender;
- Aydin, Hatip;
- Beck, Christine R;
- Gambin, Tomasz;
- Muzny, Donna M;
- Bilge Geckinli, B;
- Karaman, Ali;
- Jhangiani, Shalini N;
- Gibbs, Richard A;
- Lupski, James R
Publication type:
Article
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.
Published in:
Molecular Biology Reports, 2013, v. 40, n. 7, p. 4619, doi. 10.1007/s11033-013-2555-x
By:
- Karatas, Omer;
- Guzel, Esra;
- Karaca, Ender;
- Sevli, Serhat;
- Soyucen, Erdogan;
- Yuksel, Adnan;
- Ozen, Mustafa
Publication type:
Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Published in:
BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
By:
- Wu-Lin Charng;
- Karaca, Ender;
- Coban Akdemir, Zeynep;
- Gambin, Tomasz;
- Atik, Mehmed M.;
- Shen Gu;
- Posey, Jennifer E.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Doddapaneni, Harsha;
- Jianhong Hu;
- Boerwinkle, Eric;
- Gibbs, Richard A.;
- Rosenfeld, Jill A.;
- Hong Cui;
- Fan Xia;
- Manickam, Kandamurugu;
- Yaping Yang;
- Faqeih, Eissa A.;
- Al Asmari, Ali
Publication type:
Article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Published in:
2016
By:
- Bayram, Yavuz;
- Karaca, Ender;
- Akdemir, Zeynep Coban;
- Yilmaz, Elif Ozdamar;
- Tayfun, Culsen Akay;
- Aydin, Hatip;
- Torun, Deniz;
- Bozdogan, Sevcan Tug;
- Cezdirici, Alper;
- Isikay, Sedat;
- Atik, Mehmed M.;
- Cambin, Tomasz;
- Harel, Tamar;
- El-Hattab, Ayman W.;
- Wu-Lin Charng;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Karaman, Ali;
- Celik, Tamer
Publication type:
journal article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
By:
- 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.
Publication type:
Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
By:
- 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.
Publication type:
Article
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 21, p. 3516, doi. 10.1093/hmg/ddaa237
By:
- Nistala, Harikiran;
- Dronzek, John;
- Gonzaga-Jauregui, Claudia;
- Chim, Shek Man;
- Rajamani, Saathyaki;
- Nuwayhid, Samer;
- Delgado, Dennis;
- Burke, Elizabeth;
- Karaca, Ender;
- Franklin, Matthew C;
- Sarangapani, Prasad;
- Podgorski, Michael;
- Tang, Yajun;
- Dominguez, Melissa G;
- Withers, Marjorie;
- Deckelbaum, Ron A;
- Scheonherr, Christopher J;
- Gahl, William A;
- Malicdan, May C;
- Zambrowicz, Brian
Publication type:
Article
Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 1, p. 93, doi. 10.1177/0883073808321047
By:
- Yuksel, Adnan;
- Karaca, Ender;
- Albayram, M. Sait
Publication type:
Article

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