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SaveShare Save Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey
Akalin, Akcahan; Ozalkak, Servan; Yildirim, Ruken; Karakaya, Amine Aktar; Kolbasi, Baris; Durmusalioglu, Enise Avci; Kokali, Funda; Urel-Demir, Gizem; Oz, Veysel; Unal, Edip; Atik, Tahir; Simsek-Kiper, Pelin Ozlem; Elcioglu, Nursel H. Share Save Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ( vol 103 , pg 221 , 2018)Martin, Carol-Anne; Sarlos, Kata; Logan, Clare, V; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmueller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A. Y.; Barraza-Garcia, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H.; Gorman, Grainne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Stabej, Polona Le Quesne; Malallah, Asam Jassim; Nurnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria Jose; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Goekhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E.; Hickson, Ian D.; Jackson, Andrew P. Share Save HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataDu, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M.; Jhangiani, Shalini N.; Li, He; Muzny, Donna; Fatih, Jawid M.; Yesil, Gozde; Elcioglu, Nursel H.; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R. Share Save High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationMitani, 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 Share Save Genome sequencing in families with congenital limb malformationsElsner, Jonas; Mensah, Martin A.; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie; de Silva, Deepthi C.; Elcioglu, Nursel; Filges, Isabel; Gerkes, Erica; Girisha, Katta M.; Graul-Neumann, Luitgard; Jamsheer, Aleksander; Krawitz, Peter; Kurth, Ingo; Markus, Susanne; Megarbane, Andre; Reis, Andre; Reuter, Miriam S.; Svoboda, Daniel; Teller, Christopher; Tuysuz, Beyhan; Turkmen, Seval; Wilson, Meredith; Woitschach, Rixa; Vater, Inga; Caliebe, Almuth; Hulsemann, Wiebke; Horn, Denise; Mundlos, Stefan; Spielmann, Malte Share Save Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyTebani, Abdellah; Sudrie-Arnaud, Benedicte; Dabaj, Ivana; Torre, Stephanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Helene; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves; Baruteau, Julien; Arnoux, Jean-Baptiste; Brassier, Anais; Brehin, Anne-Claire; Busa, Tiffany; Cano, Aline; Chabrol, Brigitte; Coubes, Christine; Desguerre, Isabelle; Doco-Fenzy, Martine; Drenou, Bernard; Elcioglu, Nursel H.; Elsayed, Solaf; Fouilhoux, Alain; Poirsier, Celine; Goldenberg, Alice; Jouvencel, Philippe; Kuster, Alice; Labarthe, Francois; Lazaro, Leila; Pichard, Samia; Rivera, Serge; Roche, Sandrine; Roggerone, Stephanie; Roubertie, Agathe; Sigaudy, Sabine; Spodenkiewicz, Marta; Tardieu, Marine; Vanhulle, Catherine; Marret, Stephane; Bekri, Soumeya Share Save The genomic and clinical landscape of fetal akinesia (vol 22, pg 511, 2020)Pergande, Matthias; Motameny, Susanne; Ozdemir, Ozkan; Kreutzer, Mona; Wang, Haicui; Daimaguler, Huelya-Sevcan; Becker, Kerstin; Karakaya, Mert; Ehrhardt, Harald; Elcioglu, Nursel; Ostojic, Slavica; Chao, Cho-Ming; Kawalia, Amit; Duman, Ozgur; Koy, Anne; Hahn, Andreas; Reimann, Jens; Schoner, Katharina; Schanzer, Anne; Westhoff, Jens H.; Schwaibold, Eva Maria Christina; Cossee, Mireille; Imbert-Bouteille, Marion; von Pein, Harald; Haliloglu, Goknur; Topaloglu, Haluk; Altmuller, Janine; Nurnberg, Peter; Thiele, Holger; Heller, Raoul; Cirak, Sebahattin Share Save The genomic and clinical landscape of fetal akinesiaPergande, Matthias; Motameny, Susanne; Oezdemir, Oezkan; Kreutzer, Mona; Wang, Haicui; Daimagueler, Huelya-Sevcan; Becker, Kerstin; Karakaya, Mert; Ehrhardt, Harald; Elcioglu, Nursel; Ostojic, Slavica; Chao, Cho-Ming; Kawalia, Amit; Duman, Ozgur; Koy, Anne; Hahn, Andreas; Reimann, Jens; Schoner, Katharina; Schaenzer, Anne; Westhoff, Jens H.; Schwaibold, Eva Maria Christina; Cossee, Mireille; Imbert-Bouteille, Marion; von Pein, Harald; Haliloglu, Goknur; Topaloglu, Haluk; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Heller, Raoul; Cirak, Sebahattin Share Save The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritancePehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R. Share Save Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the diseaseMartins, Carla; de Medeiros, Paula Frassinetti, V; Leistner-Segal, Sandra; Dridi, Larbi; Elcioglu, Nursel; Wood, Jill; Behnam, Mandiyeh; Noyan, Bilge; Lacerda, Lucia; Geraghty, Michael T.; Labuda, Damian; Giugliani, Roberto; Pshezhetsky, Alexey, V Share Save TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic SpectrumXue, Jing-yi; Wang, Zheng; Shinagawa, Satoshi; Ohashi, Hirofumi; Otomo, Nao; Elcioglu, Nursel H.; Nakashima, Tomoki; Nishimura, Gen; Ikegawa, Shiro; Guo, Long Share Save The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromevan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save Mutations in TOP3A Cause a Bloom Syndrome-like Disorder (vol 103, pg 221, 2018)Martin, Carol-Anne; Sarlos, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmuller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A. Y.; Barraza-Garcia, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H.; GOSgene; Gorman, Grainne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Stabej, Polona Le Quesne; Malallah, Asam Jassim; Nurnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria Jose; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gokhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E.; Hickson, Ian D.; Jackson, Andrew P. Share Save Mutations in TOP3A Cause a Bloom Syndrome-like DisorderMartin, Carol-Anne; Sarlos, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmueller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A. Y.; Barraza-Garcia, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H.; GOSgene; Gorman, Grainne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Stabej, Polona Le Quesne; Malallah, Asam Jassim; Nuernberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria Jose; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Goekhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesais, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E.; Hickson, Ian D.; Jackson, Andrew P. Share Save Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral AnomaliesDi Gioia, Silvio Alessandro; Shaaban, Sherin; Tuysuz, 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. Share Save Further delineation of Malan syndromePriolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Hernandez Acero, Ines; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H.; Fahrner, Jill A.; Foster, Alison; Garcia Gonzalez, Noelia; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M.; Mammi, Corrado; Mathijssen, Inge B.; McKee, Shane; Menke, Leonie A.; Mirzaa, Ghayda M.; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E.; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S.; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Maria Valdez, Rita; Van Haeringen, Arie; Van Hagen, Johanna M.; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V.; Zenker, Martin; Hennekam, Raoul C. Share Save Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsColombo, Elisa A.; Elcioglu, Nursel H.; Graziano, Claudio; Farinelli, Pamela; Di Fede, Elisabetta; Neri, Iria; Facchini, Elena; Greco, Mariangela; Gervasini, Cristina; Larizza, Lidia Share Save 
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