Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1 von Akgun‐Dogan, Ozlem, Ağaoğlu, Nihat B., K. Demirkol, Yasemin, Doğanay, Levent, Ergül, Yakup, Karacan, Mehmet

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Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient von Agaoglu, Nihat Bugra, Akgun Dogan, Ozlem

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Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels von Agaoglu, Nihat Bugra, Unal, Busra, Akgun Dogan, Ozlem, Kanev, Martin Orlinov, Zolfagharian, Payam, Ozemri Sag, Sebnem, Temel, Sehime Gulsun, Doganay, Levent

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The same mutation in a family with adenosine deaminase 2 deficiency von Sozeri, Betul, Ercan, Gozde, Dogan, Ozlem Akgun, Yıldız, Jale, Demir, Ferhat, Doğanay, Levent

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Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants von Dogan, Ozlem Akgun, Agaoglu, Nihat Bugra

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ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes von Akgun‐Dogan, Ozlem, Simsek‐Kiper, Pelin O., Taskiran, Ekim, Lissewski, Christina, Brinkmann, Julia, Schanze, Denny, Göçmen, Rahşan, Cagdas, Deniz, Bilginer, Yelda, Utine, Gülen E., Zenker, Martin, Ozen, Seza, Tezcan, İlhan, Alikasifoglu, Mehmet, Boduroğlu, Koray

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Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results von Hatirnaz Ng, Ozden, Sahin, Ilayda, Erbilgin, Yucel, Ozdemir, Ozkan, Yucesan, Emrah, Erturk, Nazli, Yemenici, Merve, Akgun Dogan, Ozlem, Ugur Iseri, Sibel Aylin, Satman, Ilhan, Alanay, Yasemin, Ozbek, Ugur

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Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis... von Simsek‐Kiper, Pelin O., Taskiran, Ekim Z., Kosukcu, Can, Urel‐Demir, Gizem, Akgun‐Dogan, Ozlem, Yilmaz, Guney, Utine, Gulen E., Nishimura, Gen, Boduroglu, Koray, Alikasifoglu, Mehmet

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The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation von Gumruk, Fatma, Orgul, Gokcen, Akgun Dogan, Ozlem, Tanacan, Atakan, Karaagaoglu, Ergun, Beksac, Mehmet Sinan

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Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey von Dogan, Ozlem Akgun, Topcu, Seda, Tanir, Naciye Gonul

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Clinical features of generalized lipodystrophy in Turkey: A cohort analysis von Yildirim Simsir, Ilgin, Tuysuz, Beyhan, Ozbek, Mehmet Nuri, Tanrikulu, Seher, Celik Guler, Merve, Karhan, Asuman Nur, Denkboy Ongen, Yasemin, Gunes, Nilay, Soyaltin, Utku Erdem, Altay, Canan, Nur, Banu, Ozalkak, Servan, Akgun Dogan, Ozlem, Dursun, Fatma, Pekkolay, Zafer, Eren, Mehmet Ali, Usta, Yusuf, Ozisik, Secil, Ozgen Saydam, Basak, Adiyaman, Suleyman Cem, Unal, Mehmet Cagri, Gungor Semiz, Gokcen, Turan, Ihsan, Eren, Erdal, Kayserili, Hulya, Jeru, Isabelle, Vigouroux, Corinne, Atik, Tahir, Onay, Huseyin, Ozen, Samim, Arioglu Oral, Elif, Akinci, Baris

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COVID-19 PCR test performance on samples stored at ambient temperature von Agaoglu, Nihat Bugra, Yildiz, Jale, Akgun Dogan, Ozlem, Kose, Betsi, Alkurt, Gizem, Kendir Demirkol, Yasemin, Irvem, Arzu, Doganay, Levent, Dinler Doganay, Gizem

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Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center von Akgun-Dogan, Ozlem, Tuc Bengur, Ecenur, Ay, Beril, Ozkose, Gulsah Sebnem, Kar, Emre, Bengur, Fuat Baris, Bulut, Aybike S, Yigit, Ayca, Aydin, Eylul, Esen, Fatma Nisa, Ozdemir, Ozkan, Yesilyurt, Ahmet, Alanay, Yasemin

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A rare disease: ZAP70 deficiency von Erdogan, Seher, Cakmak, Selen Ceren, Gurkan, Atay, Akkus, Canan Hasbal, Karakayali, Burcu, Dogan, Ozlem Akgun, Sozeri, Betul

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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4 von Akinci, Gulcin, Alyaarubi, Saif, Patni, Nivedita, Alhashmi, Nadia, Al‐Shidhani, Azza, Prodam, Flavia, Gagne, Nancy, Babalola, Funmbi, Al Senani, Aisha, Muniraj, Kavitha, Elsayed, Solaf M., Beghini, Marianna, Saydam, Basak Ozgen, Allawati, Moosa, Vaishnav, Madhumati S., Can, Ender, Simsir, Ilgin Y., Sorkina, Ekaterina, Dursun, Fatma, Kamrath, Clemens, Cavdar, Umit, Chakraborty, Partha P., Dogan, Ozlem Akgun, Al Hosin, Aliya, Al Maimani, Ashwaq, Comunoglu, Nil, Hamed, Ahmed, Huseinbegovic, Tea, Scherer, Thomas, Curtis, Jacqueline, Brown, Rebecca J., Topaloglu, Haluk, Simha, Vinaya, Wabitsch, Martin, Tuysuz, Beyhan, Oral, Elif A., Akinci, Baris, Garg, Abhimanyu

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Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease von Yilmaz, Kubra, Saygili, Seha, Canpolat, Nur, Akgun-Dogan, Ozlem, Yuruk Yildirim, Zeynep Nagehan, Cicek-Oksuz, Rumeysa Yasemin, Oner, Huseyin Adil, Aksu, Bagdagul, Akyel, Nazli Gulsum, Oguzhan-Hamis, Ozge, Dursun, Hasan, Yavuz, Sevgi, Cicek, Neslihan, Akinci, Nurver, Karabag Yilmaz, Esra, Agbas, Ayse, Nayir, Ahmet Nevzat, Konukoglu, Dildar, Kurugoglu, Sebuh, Sever, Lale, Caliskan, Salim

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Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey von Guner Yilmaz, Bengisu, Akgun-Dogan, Ozlem, Ozdemir, Ozkan, Yuksel, Bayram, Hatirnaz Ng, Ozden, Bilguvar, Kaya, Ay, Beril, Ozkose, Gulsah Sebnem, Aydin, Eylul, Yigit, Ayca, Bulut, Aybike, Esen, Fatma Nisa, Beken, Serdar, Aktas, Selma, Demirel, Atalay, Arcagok, Baran Cengiz, Kazanci, Ebru, Bingol, İbrahim, Umur, Ozge, Sik, Guntulu, Isik, Ugur, Ersoy, Melike, Korkmaz, Ayse, Citak, Agop, Mardinoglu, Adil, Ozbek, Ugur, Alanay, Yasemin

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Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum von Akgün Doğan, Özlem, Demir, Gizem Ürel, Kosukcu, Can, Taskiran, Ekim Z., Simsek-Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray

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Peters Plus syndrome: a recognizable clinical entity von Demir, Gizem Urel, Lafci, Naz Guleray, Dogan, Ozlem Akgun, Kiper, Pelin Ozlem Simsek, Utine, Gulen Eda

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Responding to Covid-19 in Istanbul: Perspective from Genomic Laboratory von Doganay, Levent

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