Search

Author/Creator Akdemir, Zeynep C.

1. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Issue 4 (13th February 2018)

Authors:
Dinckan, Nuriye; Du, Renqian; Akdemir, Zeynep C.; Bayram, Yavuz; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Boerwinkle, Eric; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Uyguner, Zehra O.; Letra, Ariadne
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
1015
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy. Issue 7 (2nd April 2021)

Authors:
Duan, Ruizhi; Saadi, Nebal Waill; Grochowski, Christopher M.; Bhadila, Ghalia; Faridoun, Afnan; Mitani, Tadahiro; Du, Haowei; Fatih, Jawid M.; Jhangiani, Shalini N.; Akdemir, Zeynep C.; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Marafi, Dana; Lupski, James R.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
1972
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Issue 8 (11th July 2019)

Authors:
Punetha, Jaya; Karaca, Ender; Gezdirici, Alper; Lamont, Ryan E.; Pehlivan, Davut; Marafi, Dana; Appendino, Juan P.; Hunter, Jill V.; Akdemir, Zeynep C.; Fatih, Jawid M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Innes, A. Micheil; Posey, Jennifer E.; Lupski, James R.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 8(2019)
Page Start:
1395
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Issue 5 (14th April 2020)

Authors:
Marafi, Dana; Mitani, Tadahiro; Isikay, Sedat; Hertecant, Jozef; Almannai, Mohammed; Manickam, Kandamurugu; Abou Jamra, Rami; El‐Hattab, Ayman W.; Rajah, Jaishen; Fatih, Jawid M.; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Boerwinkle, Eric;...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 5(2020)
Page Start:
610
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. Issue 9 (20th June 2017)

Authors:
Jehee, Fernanda S.; de Oliveira, Valdirene T.; Gurgel‐Giannetti, Juliana; Pietra, Rafaella X.; Rubatino, Fernando V. M.; Carobin, Natália V.; Vianna, Gabrielle S.; de Freitas, Mariana L.; Fernandes, Karla S.; Ribeiro, Beatriz S. V.; Brüggenwirth, Hennie T.; Ali‐Amin, Roza; White, Janson J.; Akdem...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
2451
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Front Cover, Volume 41, Issue 1. Issue 1 (24th December 2019)

Authors:
Chen, Weisheng; Lin, Jiachen; Wang, Lianlei; Li, Xiaoxin; Zhao, Sen; Liu, Jiaqi; Akdemir, Zeynep C.; Zhao, Yanxue; Du, Renqian; Ye, Yongyu; Song, Xiaofei; Zhang, Yuanqiang; Yan, Zihui; Yang, Xinzhuang; Lin, Mao; Shen, Jianxiong; Wang, Shengru; Gao, Na; Yang, Ying; Liu, Ying
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
i
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Issue 12 (13th October 2020)

Authors:
Zhang, Chaofan; Mazzeu, Juliana F.; Eisfeldt, Jesper; Grochowski, Christopher M.; White, Janson; Akdemir, Zeynep C.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lindstrand, Anna; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3593
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. (4th August 2015)

Authors:
Karaca, Ender; Yuregir, Ozge O.; Bozdogan, Sevcan T.; Aslan, Huseyin; Pehlivan, Davut; Jhangiani, Shalini N.; Akdemir, Zeynep C.; Gambin, Tomasz; Bayram, Yavuz; Atik, Mehmed M.; Erdin, Serkan; Muzny, Donna; Gibbs, Richard A.; Lupski, James R.; The Baylor‐Hopkins Center for Mendelian Genomics
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2795
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease. Issue 1 (26th September 2019)

Authors:
Chen, Weisheng; Lin, Jiachen; Wang, Lianlei; Li, Xiaoxin; Zhao, Sen; Liu, Jiaqi; Akdemir, Zeynep C.; Zhao, Yanxue; Du, Renqian; Ye, Yongyu; Song, Xiaofei; Zhang, Yuanqiang; Yan, Zihui; Yang, Xinzhuang; Lin, Mao; Shen, Jianxiong; Wang, Shengru; Gao, Na; Yang, Ying; Liu, Ying
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
182
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗