1-) Tangeraas Trine, Constante Juliana R, Backe Paul Hoff, Oyarzábal Alfonso, Neugebauer Julia, Weinhold Natalie, Boemer Francois, Debray François G, Öztürk Hişmi Burcu, Gümüş Evren, Eminoğlu Fatma Tuba, Öncül Ümmühan, Footitt Emma, Davison James, Martinez Caroline, Bueno Clarissa, Machado Irene, Rodríguez-pombo Pilar, Al-sannaa Nouriya, De Los Santos Mariela, López Jordi Muchart, Akay Hatice, Karaca Meryem, Tekin Mustafa, Pajares Sonia, Ormazabal Aida, Stoway Stephanie D, Artuch Rafael, Dixon Marjorie, Mørkrid Lars, García-cazorla Angeles, 2023. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. Brain

2-) Laforce Geneva R., Farr Jordan S., Liu Jingyi, Cydni Cydni, Gümüş Evren, Pinkard Otis, Miranda Helen C., Johnson Katherine, Sweet Thomas J, Ji Ping, Lin Ai, Coller Jeff, Philippidou Polyxeni, Wagner Eric J, Schaffer Ashleigh E, 2022. Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration. Neuron

3-) Wang Yıng, Gümüş Evren, Hekımı Sıegfrıed, 2022. A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options. Molecular Genetics and Metabolism Reports

4-) Wang Jiyong, Foroutan Aidin, Richardson Ellen, Skinner Steven A, Reilly Jack, Kerkhof Jennifer, Curry Cynthia J, Tarpey Patrick S, Robertson Stephen P, Maystadt Isabelle, Keren Boris, Dixon Joanne W, Skinner Cindy, Rachel Rachel, Ruaud Lyse, Gümüş Evren, Lakeman Phillis, Alders Marielle, Tedder Matthew L, Schwartz Charles E, Friez Michael J, Sadikovic Bekim, Stevenson Roger E, 2022. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics

5-) Lima Ariadne R, Ferreira Barbara M, Zhang Chaofan, Jolly Angad, Du Haowei, White Janson J, Dawood Moez, Lins Tulio C, Chiabai Marcela A, Van Beusekom Ellen, Cordoba Mara S, Caldas Rosa Erica C C, Kayserili Karabey Hülya, Kimonis Virginia, Wu Erica, Mellado Cecilia, Aggarwal Vineet, Richieri-costa Antonio, Brunoni Décio, Canó Talyta M, Jorge Alexander A L, Kim Chong A, Honjo Rachel, Bertola Débora R, Dandalo-girardi Raissa M, Bayram Yavuz, Gezdirici Alper, Yılmaz Güleç Elif, Gümüş Evren, Can Yılmaz Gülay, Okamoto Nobuhiko, Ohashi Hirofumi, Çoban Akdemir Zeynep, Mitani Tadahiro, Jhangiani Shalini N, Muzny Donna M, Regattieri Neysa A P, Pogue Robert, Pereira Rinaldo W, Otto Paulo A, Gibbs Richard A, Ali Bassam R, Van Bokhoven Hans, Brunner Han G, Sutton V Reid, Lupski James R, Vianna-morgante Angela M, Carvalho Claudia M B, Mazzeu Juliana F, 2022. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation

6-) Marchi Margherita, D'amato Ilaria, Andelic Mirna, Cartelli Daniele, Salvi Erika, Lombardi Raffaella, Gümüş Evren, Lauria Guiseppe, 2022. Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A. Pain

7-) Ahn Lucie Y, Coatti Giuliana C, Liu Jingyi, Gümüş Evren, Schaffer Ashleigh E, Miranda Helen C, 2021. An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. Journal of Neuroscience Research

8-) Rasheed Arısha, Gümüş Evren, Zakı Maha, Johnson Katherıne, Manzoor Humera, Laforce Geneva, Ross Danıca, Mcevoyvennerı Jennıfer, Stanley Valentına, Sangmoon Lee, Abbır Vıranı, Tawfeg Benomran, Gleeson Joseph G, Naz Sadaf, Schaffer Ashleıgh, 2021. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. Journal of Medical Genetics

9-) Gümüş Evren, Tuncez Ebru, Öz Özlem, Saka Güvenç Merve, 2021. Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of Human Genetics

10-) Gümüş Evren, Temiz Ebru, Sarıkaya Baran, Yüksekdağ Özgür, Sipahioğlu Serkan, Gönel Ataman, 2021. The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip. Indian Journal of Orthopaedics

11-) Gümüş Evren, Katı Bülent, Pelit Eyyup Sabri, Ördek Eser, Çiftçi Halil, 2021. A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way?. Revista Internacional de Andrología

12-) Dinçer Tuba, Gümüş Evren, Toraman Bayram, Er İdris, Yıldız Gökhan, Yüksel Zafer, Kalay Ersan, 2021. A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. American Journal of Medical Genetics Part A

13-) Martın Kw, Weaver Nn, Alhasan Kk, Gümüş Evren, Sullıvan Br, Zenker Martın, Hıldebrandt Ff, Saba Jd, 2020. MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome. AMERICAN JOURNAL OF NEURORADIOLOGY

14-) Zhao Pımıng, Lıu Isaac D, Hodgın Jeffrey B, Benke Peter I, Selva Jeremy, Torta Federıco, Wenk Markus R, Endrızzı James A, West Olıvıa, Ou Weıxıng, Tang Emıly, Lımeng Goh Denıse, Kıat Hong Tay Stacey, Kım Yap Huı, Loh Alwın, Weaver Nıcole, Sullıvan Bonnıe, Larson Austın, Cooper Megan A, Alhasan Khalıd, Alangarı Abdullah A, Salım Suha, Gümüş Evren, Chen Karın, Zenker Martın, Hıldebrandt Frıedhelm, Saba Julıe D, 2020. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. Journal of Inherited Metabolic Disease

15-) Abdelfattah Fatıma, Karımınejad Arıana, Kahlert Annekarın, Morrıson Patrıck J, Gümüş Evren, Mathews Katherına D, Darbro Benjamın W, Amor Davıd J, Walsh Maıe, Sznajer Yves, Weıb Luısa, Weıdensee Sabıne, Chıtayat Davıd, Shannon Patrıck, Bermejo Sanchez Eva, Rıano Galan Isolına, Hayes Ian, Poke Gemma, Rooryck Carolıne, Pennamen Perrıne, Khung Savatovsky Suonavy, Toutaın Annıck, Vuıllaume Marıe Laure, Ghaderı Sohı Sıavash, Karımınejad Mohamad H, Weınert Sönke, Stıcht Heınrıch, Zenker Martın, Schanze Denny, 2020. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human Mutation

16-) Güneş Ali Erdal, Çelik Hakim, Yılmaz Özgür, Erbaş Celal, Gümüş Evren, 2019. ACUTE AND CHRONIC EFFECTS OF PRESSURE ON DYNAMIC THIOL-DISULPHIDE HOMOEOSTASIS IN DIVERS. FRESENIUS ENVIRONMENTAL BULLETIN

17-) Gümüş Evren, 2018. Comparison of two groups for the apolipoprotein E polymorphisms by using next generation sequencing: The first group with three consecutive abortions and the second group with at most one abortion in three consecutive pregnancies. Gene

18-) Gümüş Evren, 2018. The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T). Journal of Clinical Medicine

19-) Gümüş Evren, 2018. The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss. Ginekologia Polska

20-) Gümüş Evren, Durak Aras Beyhan, Çilingir Oğuz, Yarar Coşkun, Çarman Kürşat Bora, Laçinel Gürlevik Sibel, Koçak Ozan, Artan Sevilhan, 2018. Apolipoprotein E allelic variants and cerebral palsy. Turkish Journal of Pediatrics

1-) Gümüş Evren, Tunçez Ebru, Öz Özlem, Saka Güvenç Merve, 2021. Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome". Annals of Human Genetics

2-) Gümüş Evren, 2020. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. European Journal of Medical Genetics

3-) Gümüş Evren, Armağan Özgür, 2020. A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Fetal and Pediatric Pathology

4-) Gümüş Evren, 2020. A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay. Cell Journal

5-) Gümüş Evren, 2019. Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (1314): A Case Report. Iranian Journal of Public Health

6-) Yüksel Zafer, Yazol Merve, Gümüş Evren, 2019. Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. American Journal of Medical Genetics Part A

7-) Gümüş Evren, 2019. A Hemizygous 370 Kilobase Microduplication atXq13.1 in a Three-Year-Old Boy With Autism andSpeech Delay. Fetal and Pediatric Pathology

8-) Gümüş Evren, 2019. Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B. Dermatologica Sinica

9-) Gümüş Evren, 2018. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?. Ophthalmic Genetics

10-) Gümüş Evren, 2018. A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema. Clinical Dysmorphology

11-) Gümüş Evren, 2018. Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa. Clinical Dysmorphology

1-) Gümüş Evren, Temiz Ebru, Demircan Turan, Sarıkaya Baran, Yüksekdağ Özgür, Bozkurt Celal, Koyuncu İsmail, Öz Özlem, 2022. The link between miR-96 levels and the developmental dysplasia of the hip. Gazi Medical Journal

2-) Gümüş Evren, 2019. Examination of CFTR Gene Mutations in Patient Groups with Borderline Sweat Test and Clinical Preliminary Diagnosis of Cystic Fibrosis by Next Generation Sequencing Method in Sanliurfa Province. Journal of Academic Research in Medicine

3-) Gümüş Evren, 2018. Güneydoğu Anadolu Bölgesi’ndeki Tekrarlayan Abortus Olgularında Protrombin, MTHFR, FV Leiden ve PAI-1 Polimorfizmlerinin Retrospektif Olarak İncelenmesi. Dicle Tıp Dergisi

1-) Bor Meltem, İlhan Özkan, Gümüş Evren, Özkan Solmaz, Karaca Meryem, 2022. A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report. Journal of Pediatric Intensive Care

2-) Ergören Mahmut Çerkez, Çobanoğulları Havva, Tulay Pınar, Fahrioğlu Umut, Tuncel Gülten, Betmezoğlu Meryem, Kalkan Rasime, Yeşil Sayın Gözde, Gümüş Evren, Durak Aras Beyhan, Bahsi Taha, Bakır Abdüllatif, Akın Haluk, Mocan Gamze, Ergün Mehmet Ali, Dündar Munis, 2020. Meeting Reports: Notes and commentaries on Turkish Medical Genetics Association and Cyprus Turkish Genetic Union Meeting. GAZI MEDICAL JOURNAL

3-) Seyhanli Muhammed, Ilhan Ozkan, Gümüş Evren, Bor Meltem, Karaca Meryem, 2020. Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B. Journal of Pediatric Intensive Care

4-) Gümüş Evren, Karaca Meryem, Deveci Uğur, Jırsa Mılan, 2020. Olgu sunumu: moleküler düzeyde tanısı konulmuş olan ilk Türk Rotor sendromlu aile. Türk Pediatri Arşivi

5-) Gümüş Evren, 2019. A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases. Journal of Pediatric Genetics

1-) Elbe Hülya, Gümüş Evren, Koçak Elif Nur, Çetinavcı Dilan, Yücel Anıl, 2023. Sanat Temelli Özel Çalışma Modülü: Tıp Öğrencilerinin Görsel Düşünme ve İletişim Becerilerinin Geliştirilmesi. Tip Egitimi Dunyasi

2-) Gümüş Evren, Çilingir Oğuz, Yarar Coşkun, Çarman Kürşat Bora, Koçak Ozan, Laçinel Gürlevik Sibel, Artan Sevilhan, Durak Aras Beyhan, 2019. İnterlökin-6 Geni Promotör Bölge Polimorfizmi ve SerebralPalsi İlişkisinin İncelenmesi. EGE KLİNİKLERİ TIP DERGİSİ

3-) Gümüş Evren, 2019. PRİMER İNFERTİLİTE , AZOSPERMİ VE HABİTÜEL ABORTUS HASTA GRUPLARINDAKİ KROMOZOM ANOMALİLERİNİN VE POLİMORFİZMLERİNİN DEĞERLENDİRİLMESİ. Van Tıp Dergisi

4-) Gümüş Evren, 2018. Müdavi hekim ve konsültan hekim olarak gerçekleştirilen tibbi genetik konsültasyonlarinin değerlendirilmesi. Harran Üniversitesi Tıp Fakültesi Dergisi

1-) Çetin Baki Volkan, Sipahioğlu Serkan, Gümüş Evren, 2022. A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia. Harran Universitesi Tip Fakultesi Dergisi

1-) Güneş Ali Erdal, Çelik Hakim, Yılmaz Özgür, Erbaş Celal, Gümüş Evren, 2018. Examination of Acute and Chronic Effects of Air Diving on Dynamic Tiyol-Disulfide Homoeostasis in Professional Divers. 11.International Symposium on Underwater Research

1-) Çadırcı Dursun, Aydoğ Fatma, Gümüş Evren, 2019. Palyatif Bakım Servisinde Yeni Tanı Marfan Sendromu: Olgu Sunumu. 18th International Eastern Mediterranean Family Medicine Congress

2-) Karaca Meryem, Çalık Mustafa, Gümüş Evren, 2019. The Evaluation of Glutaric Aciduria Type 1 Patients Which Were Diagnosed and Followed at Harran University Medical Faculty Hospital Between January 2017 and December 2018. INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS

3-) Gümüş Evren, 2018. Yeni Tanımlanan Bir Mutasyon Eşliğinde Okülokutanöz Albinizm Vakalarına Yaklaşım. II. Uluslararası Hakemli GAP ZİRVESİ

4-) Gümüş Evren, 2018. Very unknown neuroendocrine features of Rubinstein-Taybi Syndrome in the context of a novel identified mutation. 3rd INTERNATIONAL CONGRESS OF TURKISH NEUROENDOCRINOLOGY SOCIETY

5-) Gümüş Evren, 2018. Yeni Tanımlanan Bir Mutasyon Eşliğinde Ailesel Hiperkolesterolemi Vakalarının Değerlendirilmesi. Vasküler ve Moleküler Kardiyoloji Kongresi

6-) Gümüş Evren, 2018. Two Variants Associated with Phenotype in TECPR2 and NKX6-2 Genes Think Twice: In-Silico Prediction Tools or Family Screening?. 13th National Congress of Medical Genetics with International Participation

7-) Gümüş Evren, 2018. 9p PARTIAL DUPLICATION SYNDROME IN A PATIENT WITH AN AUTISM SPECTRUM DISORDER: WHICH GENE, WHICH LOCUS?. 5th INTERNATIONAL CONGRESS ON MATHEMATICS, ENGINEERING, NATURAL AND MEDICAL SCIENCES

8-) Gümüş Evren, Çilingir Oğuz, Yarar Coşkun, Çarman Kürşat Bora, Özdemir Muhsin, Koçak Ozan, Laçinel Gürlevik Sibel, Artan Sevilhan, Durak Aras Beyhan, 2017. Serebral Palsili Çocuklarda Apolipoprotein E Genotipi ve İnterlökin-6 Polimorfizminin Değerlendirilmesi. 19.ULUSAL ÇOCUK NÖROLOJİ KONGRESİ

9-) Özer Ahmet, Gümüş Evren, Teker Emine, 2017. DISTRUBITION OF NOS3 ALLELIC VARIANTS IN YOUNG WOMEN WITH MULTIPLE MISCARRIAGES:WHAT SMALL POLYMORHISM STUDY TELL US?. 1ST INTERNATIONAL CONGRESS ON CANCER AND ION CHANNELS

10-) Özer Ahmet, Gümüş Evren, Teker Emine, 2017. FREQUENCY OF INTEGRIN B3 POLYMORPHISMS AND TUMORIGENESİS. 1ST INTERNATIONAL CONGRESS ON CANCER AND ION CHANNELS

11-) Yüksel Zafer, Gümüş Evren, Kalay Ersan, İhsan Gürler Abdullah, Tanır Hüseyin Mete, Çilingir Oğuz, Artan Sevilhan, 2013. A NOVEL MUTATION IN RIPK4 CAUSE THE BARTSOCAS-PAPAS SYNDROME. 6TH DYSMORPHOLOGY DAYS

1-) Yazol Merve, Öztunalı Çiğdem, Gümüş Evren, Özer Halil, 2019. KLEEFSTRA SYNDROME: NEW MOLAR TOOTH SIGN OFMID- BRAIN?. EUROPEAN SOCIETY OF NEURORADIOLOGY Diagnostic and Interventional42 nd ANNUAL MEETING

2-) Özer Ahmet, Gümüş Evren, 2017. A NOVEL MISSENSE MUTATION OF COL1A1 GENE IN A PATIENT WITH OSTEOGENESİS IMPERFECTA. ERCİYES MEDICAL GENETICS DAYS

3-) Özer Ahmet, Gümüş Evren, 2017. MAIN MODULATOR OF EPITHELIO-MESENCHIMAL TRANSITION IN BLADDER:TGF-B3 VS CTGF. ERCİYES MEDICAL GENETICS DAYS

4-) Gümüş Evren, Durak Aras Beyhan, Yarar Coşkun, Laçinel Gürlevik Sibel, Koçak Ozan, Artan Sevilhan, Çilingir Oğuz, Çarman Kürşat Bora, 2017. APO E GENOTYPE AND CEREBRAL PALSY. 12TH EUROPEAN PEDIATRIC NEUROLOGY SOCIETY CONGRESS

5-) Özdemir Muhsin, Gümüş Evren, Tekin Ayşe Neslihan, Küçük Halime, Erzurumluoğlu Ebru, Aslan Hüseyin, Yarar Coşkun, Çilingir Oğuz, Artan Sevilhan, 2015. AN ASSESMENT OF THREE CASES WITH DISTAL 15Q DUPLICATION. 10 TH EUROPEAN CYTOGENETICS CONFERENCE 2015

6-) Gümüş Evren, Aslan Hüseyin, Tekin Ayşe Neslihan, Çilingir Oğuz, Küçük Halime, Özdemir Muhsin, Artan Sevilhan, 2015. A NONSENSE MUTATION OF THE EXT1 GENE IN A TURKISH PATIENT WITH MULTIPL CARTILAGINOUS EXOSTOSES. 12TH ISDS MEETING

7-) Türedi Özlem, Çilingir Oğuz, Aksu Mir, Gümüş Evren, Aslan Hüseyin, Artan Sevilhan, 2014. D178N-129Val genotype in a family with Creutzfeldt-Jakob Disease. European Human Genetics Conference 2016

8-) Artan Sevilhan, Erzurumluoğlu Ebru, Çarman Kürşat Bora, Gümüş Evren, Özdemir Muhsin, Durak Aras Beyhan, Aynacı Sabri, Aslan Hüseyin, Çilingir Oğuz, 2014. A rare case with de novo Isochromosome 18p Syndrome. European Human Genetics Conference 2014

9-) Gümüş Evren, Aynacı Sabri, Erzurumluoğlu Ebru, Aslan Hüseyin, Çilingir Oğuz, Artan Sevilhan, 2014. MILLER-DIEKER SENDROMLU BIR OLGU SUNUMU. 11.ULUSAL TIBBİ GENETİK KONGRESİ

1-) JOURNAL OF MEDICAL GENETICS. 2021. Hakemlik Sayısı: 1

2-) BMC NEPHROLOGY. 2021. Hakemlik Sayısı: 1

3-) AJMG PART-A. 2020. Hakemlik Sayısı: 3

4-) Journal of Assisted Reproduction and Genetics. 2020. Hakemlik Sayısı: 5

1-) Gazi Medical Journal. 2021. Hakemlik Sayısı: 1

2-) JOURNAL OF CHILD SCIENCE. 2021. Hakemlik Sayısı: 1

1-) Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation - Atıf Yılı: 2023 Atıf Sayısı: 3

2-) Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A - Atıf Yılı: 2023 Atıf Sayısı: 3

3-) Phenotypic and mutational spectrum of ROR2-related Robinow syndrome - Atıf Yılı: 2023 Atıf Sayısı: 3

4-) Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders - Atıf Yılı: 2023 Atıf Sayısı: 5

5-) A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options - Atıf Yılı: 2023 Atıf Sayısı: 8

6-) Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration - Atıf Yılı: 2023 Atıf Sayısı: 3

7-) The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T) - Atıf Yılı: 2023 Atıf Sayısı: 1

8-) The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss - Atıf Yılı: 2023 Atıf Sayısı: 1

9-) Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability - Atıf Yılı: 2023 Atıf Sayısı: 1

10-) Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation - Atıf Yılı: 2023 Atıf Sayısı: 1

11-) Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B - Atıf Yılı: 2023 Atıf Sayısı: 2

12-) An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model - Atıf Yılı: 2023 Atıf Sayısı: 2

13-) Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 - Atıf Yılı: 2023 Atıf Sayısı: 1

14-) A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way? - Atıf Yılı: 2023 Atıf Sayısı: 2

15-) Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? - Atıf Yılı: 2022 Atıf Sayısı: 1

16-) Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A - Atıf Yılı: 2022 Atıf Sayısı: 2

17-) A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome - Atıf Yılı: 2022 Atıf Sayısı: 2

18-) Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 - Atıf Yılı: 2022 Atıf Sayısı: 3

19-) Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability - Atıf Yılı: 2022 Atıf Sayısı: 2

20-) Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration - Atıf Yılı: 2022 Atıf Sayısı: 2

21-) Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation - Atıf Yılı: 2022 Atıf Sayısı: 6

22-) The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T) - Atıf Yılı: 2022 Atıf Sayısı: 4

23-) The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss - Atıf Yılı: 2022 Atıf Sayısı: 2

24-) Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders - Atıf Yılı: 2022 Atıf Sayısı: 2

25-) Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation - Atıf Yılı: 2022 Atıf Sayısı: 2

1-) Proje Durum: Devam Ediyor. Projedeki Görev: Danışman. Konu: . Proje Türü: TÜBİTAK PROJESİ. Evlilik Öncesi Spinal Musküler Atrofi Taşıyıcılık Tarama Programının Tüm Paydaşları İle Gerçek Zamanlı Olarak Değerlendirilmesi. 2022--1

1-) Proje Durum: Tamamlandı. Projedeki Görev: Yürütücü. Konu: . Proje Türü: Yükseköğretim Kurumları tarafından destekli bilimsel araştırma projesi. Gelişimsel kalça displazisi (GKD) olan hastalarda CX3CR1,UQCC ve BMP-2 genlerindeki polimorfizmlerin ve miR-96ekspresyonunun değerlendirilmesi. 2018-2021

2-) Proje Durum: Tamamlandı. Projedeki Görev: Araştırmacı. Konu: . Proje Türü: Yükseköğretim Kurumları tarafından destekli bilimsel araştırma projesi. Normozoospermik ve nonnormozoospermik olguların sprem örneklerinde DNA fragmentasyon analizi. 2015-2017

3-) Proje Durum: Tamamlandı. Projedeki Görev: Araştırmacı. Konu: . Proje Türü: Yükseköğretim Kurumları tarafından destekli bilimsel araştırma projesi. SEREBRAL PALSİLİ ÇOCUKLARDA APOLİPOPROTEİN-E VE INTERLÖKİN-6 POLİMORFİZMLERİNİN İNCELENMESİ. 2014-2016

1-) Erasmus+. Romanya. . 2021

1-) EMSA e-twinning . TR. . 2021