1. A deleterious recessive mutation in NUAK2 causes absence of brain in humans. (July 2017) Authors: Ghosh, Kakaly; Navaratnam, Naveenan; Chan, Puck Wee; Tan, Thong Teck; Ng, Alvin Yu Jin; Tohari, Sumanty; Pomp, Oz; Venkatesh, Byrappa; Altunoglu, Umut; Kayserili, Hülya; Bonnard, Carine; Reversade, Bruno Journal: Mechanisms of development Issue: Volume 145(2017)Supplement Page Start: S29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects. Issue 13 (7th July 2021) Authors: Sahni, Geetika; Chang, Shu‐Yung; Teo, Jeremy Choon Meng; Tan, Jerome Zu Yao; Fatien, Jean Jacques Clement; Bonnard, Carine; Utami, Kagistia Hana; Chan, Puck Wee; Tan, Thong Teck; Altunoglu, Umut; Kayserili, Hülya; Pouladi, Mahmoud; Reversade, Bruno; Toh, Yi‐Chin Journal: Advanced science Issue: Volume 8:Issue 13(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects. Issue 5 (6th January 2021) Authors: Sahni, Geetika; Chang, Shu‐Yung; Meng, Jeremy Teo Choon; Tan, Jerome Zu Yao; Fatien, Jean Jacques Clement; Bonnard, Carine; Utami, Kagistia Hana; Chan, Puck Wee; Tan, Thong Teck; Altunoglu, Umut; Kayserili, Hülya; Pouladi, Mahmoud; Reversade, Bruno; Toh, Yi‐Chin Journal: Advanced science Issue: Volume 8:Issue 5(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Issue 1 (December 2016) Authors: Oud, Machteld; Bonnard, Carine; Mans, Dorus; Altunoglu, Umut; Tohari, Sumanty; Ng, Alvin; Eskin, Ascia; Lee, Hane; Rupar, C.; Wagenaar, Nathalie; Wu, Ka; Lahiry, Piya; Pazour, Gregory; Nelson, Stanley; Hegele, Robert; Roepman, Ronald; Kayserili, Hülya; Venkatesh, Byrappa; Siu, Victoria; Reversade... Journal: Cilia Issue: Volume 5:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing. Issue 2 (18th January 2023) Authors: Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Moreno Traspas, Ricardo; Chia, Poh Hui; Bonnard, Carine; Szenker‐Ravi, Emmanuelle; Sarıbaş, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El‐Khateeb, Mohammad; Fathallah, Rajaa; Casanova... Journal: EMBO molecular medicine Issue: Volume 15:Issue 2(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ALX4 related parietal foramina mimicking encephalocele in prenatal period†. (17th May 2016) Authors: Saraç Sivrikoz, Tugba; Altunoglu, Umut; Kalelioglu, İbrahim Halil; Yüksel, Atıl; Uyguner, Oya Zehra; Has, Recep; Kayserili, Hülya Journal: Prenatal diagnosis Issue: Volume 36:Number 6(2016) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Issue 12 (17th August 2016) Authors: Bögershausen, Nina; Altunoglu, Umut; Beleggia, Filippo; Yigit, Gökhan; Kayserili, Hülya; Nürnberg, Peter; Li, Yun; Altmüller, Janine; Wollnik, Bernd Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia. Issue 1 (31st August 2021) Authors: Turgut, Gozde Tutku; Güleç, Çağrı; Sarac Sivrikoz, Tugba; Kale, Hamdi; Karaman, Birsen; Nishimura, Gen; Altunoglu, Umut Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Issue 12 (14th November 2017) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong‐Woo; Désir, Julie; Kiliç, Esra; Lederer, Damien; Pinson, Lucile; Thauvin‐Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome. Issue 7 (8th April 2022) Authors: Karakilic‐Ozturan, Esin; Altunoglu, Umut; Ozturk, Ayse Pinar; Kardelen Al, Asli Derya; Yavas Abali, Zehra; Avci, Sahin; Wollnik, Bernd; Poyrazoglu, Sukran; Bas, Firdevs; Uyguner, Zehra Oya; Kayserili, Hülya; Darendeliler, Feyza Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗