Umut Altunoğlu

2.9k citations

57 papers · 628 · h-index 15

Impact in

Genetics
- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- Genomic variations and chromosomal abnormalities
Molecular Biology
- Sexual Differentiation and Disorders
- Bone Metabolism and Diseases
- RNA Research and Splicing

Papers in

Molecular Biology 35
- RNA Research and Splicing 6
- Sexual Differentiation and Disorders 5
- Hedgehog Signaling Pathway Studies 4
Genetics 26
- Genomics and Rare Diseases 6
- Genomic variations and chromosomal abnormalities 5
- Craniofacial Disorders and Treatments 5
- Neurogenetic and Muscular Disorders Research 4
- Genetics and Neurodevelopmental Disorders 4

Co-authors: Hülya Kayserili (31 shared papers)Zehra Oya Uyguner (33 shared papers)Seher Başaran (16 shared papers)Güven Toksoy (18 shared papers)Birsen Karaman (20 shared papers)Bruno Reversade (4 shared papers)Şahin Avcı (17 shared papers)Firdevs Baş (7 shared papers)
Journals: European Journal of Medical Genetics (5 papers)Clinical Genetics (5 papers)Prenatal Diagnosis (2 papers)American Journal of Medical Genetics Part A (12 papers)Lara D. Veeken (1 paper)
Partner nations: Türkiye Germany United States

In The Last Decade

Umut Altunoğlu

52 papers receiving 617 citations

Peers

Countries citing papers authored by Umut Altunoğlu

Since Specialization

Citations

This map shows the geographic impact of Umut Altunoğlu's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Umut Altunoğlu with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Umut Altunoğlu more than expected).

Fields of papers citing papers by Umut Altunoğlu

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Umut Altunoğlu. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Umut Altunoğlu. The network helps show where Umut Altunoğlu may publish in the future.

Co-authors

The 25 scholars most cited alongside Umut Altunoğlu, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Umut Altunoğlu Line = papers co-authored together Umut Altunoğlu links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 57 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome Journal of Medical Genetics ·Rasim Özgür Rosti, Bethany N. Sotak, Stephanie Bielas, Gifty Bhat, Jennifer L. Silhavy, Ayça Dilruba Aslanger, Umut Altunoğlu, İlmay Bilge, Mehmet Taşdemir, Amanda D Yzaguirrem, Damir Musaev, Sofia Infante, Whitney Thuong, Isaac Marin‐Valencia, Stanley F. Nelson, Hülya Kayserili, Joseph G. Gleeson	2017	58
2	Mutations in CDK 5 RAP 2 cause Seckel syndrome Molecular Genetics & Genomic Medicine ·Gökhan Yigit, Karen E. Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoğlu, Gudrun Nürnberg, Peter Nürnberg, Anita Rauch, Yun Li, Christian T. Thiel, Bernd Wollnik	2015	46
3	IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts Lara D. Veeken ·Eleonora Adami, Sivakumar Viswanathan, Anissa A. Widjaja, Benjamin Ng, Sonia Chothani, Nevin Zhihao, Jessie Tan, Pei Min Lio, Benjamin L. George, Umut Altunoğlu, Kakaly Ghosh, Bhairav Paleja, Sebastian Schäfer, Bruno Reversade, Salvatore Albani, Andrea Ling, Steven O’Reilly, Stuart A. Cook	2021	45
4	Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome Orphanet Journal of Rare Diseases ·Tahir Atık, Asuman Koparır, Güney Bademci, Joseph Foster, Umut Altunoğlu, Gül Yeşiltepe Mutlu, Sarah Bowdin, Nursel Elçioğlu, Gulsen Akay Tayfun, Sevinç Şahin Atik, Mustafa Özen, Ferda Özkınay, Yasemin Alanay, Hülya Kayserili, Steffen Thiel, Mustafa Tekin	2015	41
5	A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling The Journal of Experimental Medicine ·Carine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, Puck Wee Chan, Thong Teck Tan, Oz Pomp, Alvin Yu Jin Ng, Sumanty Tohari, (unknown), David Carling, Byrappa Venkatesh, Umut Altunoğlu, Hülya Kayserili, Bruno Reversade	2020	38
6	Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families European Journal of Medical Genetics ·Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem Selvi Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Zehra Oya Uyguner	2016	31
7	Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations American Journal of Medical Genetics Part A ·Hülya Kayserili, Umut Altunoğlu, H. Ozgur, Seher Başaran, Zehra Oya Uyguner	2011	28
8	Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2 Neuron ·Nathalie Escande‐Beillard, Abigail Loh, Sahar N. Saleem, Kohei Kanata, Yui Hashimoto, Umut Altunoğlu, Artina Metoska, Joanes Grandjean, Fui Mee Ng, Oz Pomp, Nithya Baburajendran, Joyner Wong, Jeffrey Hill, Emmanuel Beillard, Patrick J. Cozzone, Maha S. Zaki, Hülya Kayserili, Hiroshi Hamada, Hidetaka Shiratori, Bruno Reversade	2020	28
9	A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations Journal of Clinical Research in Pediatric Endocrinology ·Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş, Zehra Yavaş Abalı, Ali Genco Gençay, Şükran Poyrazoğlu, Rüveyde Bundak, Umut Altunoğlu, Şahin Avcı, Adam Najaflı, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Feyza Darendelıler	2018	24
10	Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene The Journal of Steroid Biochemistry and Molecular Biology ·Firdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, Zehra Oya Uyguner, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Volkan Karaman, Şahin Avcı, Umut Altunoğlu, Rüveyde Bundak, Birsen Karaman, Seher Başaran, Feyza Darendelıler	2018	23
11	Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling Neuromuscular Disorders ·Güven Toksoy, Hacer Durmuş, Agharza Aghayev, Г. Г. Багирова, B Sevinc Rustemoglu, Seher Başaran, Şahin Avcı, Birsen Karaman, Yeşim Parman, Umut Altunoğlu, Zühal Yapıcı, Pınar Tektürk, Feza Deymeer, Haluk Topaloğlu, Hülya Kayserili, Piraye Oflazer, Zehra Oya Uyguner	2019	16
12	Fraser syndrome due to mutations in GRIP1—Clinical phenotype in two families and expansion of the mutation spectrum American Journal of Medical Genetics Part A ·Denny Schanze, Hülya Kayserili, Bilge N. Satkın, Umut Altunoğlu, Martin Zenker	2013	15
13	Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases Molecular Cytogenetics ·Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoğlu, Seher Başaran	2018	15
14	A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects Advanced Science ·Geetika Sahni, Shu‐Yung Chang, (unknown), Jerome Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoğlu, Hülya Kayserili, Mahmoud A. Pouladi, Bruno Reversade, Yi‐Chin Toh	2021	14
15	Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype European Journal of Medical Genetics ·Zeynep Yürük Yıldırım, Güven Toksoy, Zehra Oya Uyguner, Ahmet Nayır, Sevgi Yavuz, Umut Altunoğlu, Özde Nisa Türkkan, Burcu Sevinc, Gülden Gökçay, Dilek KÜRKÇÜ GÜNEŞ, Aysel Kıyak, Alev Yılmaz	2019	14
16	An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity American Journal of Medical Genetics Part A ·Nina Bögershausen, Umut Altunoğlu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik	2016	13
17	Romano-Ward sendromunda KCNQ1 geninde bir duplikasyon mutasyonu Clinical Genetics ·Salih Coşkun, Y. Yildirim, Abdullah Çim, Yahya İslamoğlu, Umut Altunoğlu, Zehra Oya Uyguner, Osman Gökalp	2015	11
18	Mild nasal clefting may be predictive for ALX4 heterozygotes American Journal of Medical Genetics Part A ·Umut Altunoğlu, Bilge N. Satkın, Zehra Oya Uyguner, Hülya Kayserili	2014	11
19	Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients American Journal of Medical Genetics Part A ·Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoğlu, Leyli Şentürk, Marianne McGuire, Olga Calabrese, Suneeta Madan‐Khetarpal, Lina Basel‐Vanagaite, Guntram Borck	2017	10
20	Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum Fetal and Pediatric Pathology ·Gürcan Türkyılmaz, Şahin Avcı, Tuğba Saraç Sivrikoz, Emircan Ertürk, Umut Altunoğlu, Sebnem Erol Turkyilmazlmaz, İbrahim Kalelioğlu, Recep Has, Atıl Yüksel	2019	10

About Umut Altunoğlu

Umut Altunoğlu is a scholar working on Molecular Biology, Genetics, Genetics, Surgery and Pediatrics, Perinatology and Child Health, having authored 57 papers that have together received 628 indexed citations. Recurring topics across this work include RNA Research and Splicing (6 papers), Genomics and Rare Diseases (6 papers), Sexual Differentiation and Disorders (5 papers), Genomic variations and chromosomal abnormalities (5 papers), Craniofacial Disorders and Treatments (5 papers), Neurogenetic and Muscular Disorders Research (4 papers), Genetics and Neurodevelopmental Disorders (4 papers) and Hedgehog Signaling Pathway Studies (4 papers). The work is most often cited by research in Genetics (157 citations), Molecular Biology (374 citations), Genetics (46 citations), Nephrology (30 citations) and Cell Biology (57 citations). Umut Altunoğlu has collaborated with scholars based in Türkiye, Germany and United States. Frequent co-authors include Hülya Kayserili, Zehra Oya Uyguner, Seher Başaran, Güven Toksoy, Birsen Karaman, Bruno Reversade, Şahin Avcı, Firdevs Baş, Şükran Poyrazoğlu and Yeliz Güven. Their work appears in journals such as European Journal of Medical Genetics, Clinical Genetics, Prenatal Diagnosis, American Journal of Medical Genetics Part A and Lara D. Veeken.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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Umut Altunoğlu

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