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. 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) ↗
3. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Issue 6 (9th March 2017) Authors: Rosti, Rasim Ozgur; Sotak, Bethany N; Bielas, Stephanie L; Bhat, Gifty; Silhavy, Jennifer L; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F; Kayserili, Hulya; G... Journal: Journal of medical genetics Issue: Volume 54:Issue 6(2017) Page Start: 399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. Issue 1 (21st November 2017) Authors: Yilmaz, Rüstem; Szakszon, Katalin; Altmann, Anna; Altunoglu, Umut; Senturk, Leyli; McGuire, Marianne; Calabrese, Olga; Madan‐Khetarpal, Suneeta; Basel‐Vanagaite, Lina; Borck, Guntram Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Loss-of-function mutations in Carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss. (July 2017) Authors: Laupheimer, Simone; Szenker, Emmanuelle; Altunoglu, Umut; Kayserili, Hulya; Reversade, Bruno Journal: Mechanisms of development Issue: Volume 145(2017)Supplement Page Start: S32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. PYCR2 Protects from Neurodegeneration by Controlling Oligodendrocyte Maturation and Glycinemia through SHMT2. (July 2017) Authors: Escande-Beillard, Nathalie; Kanata, Kohei; Loh, Abigail; Altunoglu, Umut; Pomp, Oz; Metoska, Artina; Grandjean, Joanes; Sotiroupoulou, Kortessa; Ng, Fui Mee; Wong, Joyner; Jansson, Anna Elisabet; Hill, Jeffrey; Cozzone, Patrick; Kayserili, Hülya; Hiroshi, Hamada; Shiratori, Hidetaka; Reversade, B... Journal: Mechanisms of development Issue: Volume 145(2017)Supplement Page Start: S116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. (3rd December 2017) Authors: Bulut, Ozgul; Ince, Zeynep; Altunoglu, Umut; Yildirim, Sukran; Coban, Asuman Other Names: Yapijakis Christos Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗