11. Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice. Issue 6 (30th December 2019) Authors: Ren, Xiaojun; Yang, Nan; Wu, Nan; Xu, Ximing; Chen, Weisheng; Zhang, Ling; Li, Yingping; Du, Ren-Qian; Dong, Shuangshuang; Zhao, Sen; Chen, Shuxia; Jiang, Li-Ping; Wang, Lianlei; Zhang, Jianguo; Wu, Zhihong; Jin, Li; Qiu, Guixing; Lupski, James R; Shi, Jiangang; Zhang, Feng Journal: Journal of medical genetics Issue: Volume 57:Issue 6(2020) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT. (3rd May 2022) Authors: Münch, Johannes; Engesser, Marie; Schönauer, Ria; Hamm, J Austin; Akay, Gulsen; Tüysüz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura; van Eerde, Albertien M; Wagner, Timo; Bergmann, Carsten; Buchan, Jillian; Wegner, Tara; Posey, Jennifer; Lupski, James R; Petit, Florence; Mccarthy, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. (16th March 2018) Authors: Chen, Anlu; Tiosano, Dov; Guran, Tulay; Baris, Hagit N; Bayram, Yavuz; Mory, Adi; Shapiro-Kulnane, Laura; Hodges, Craig A; Akdemir, Zeynep C; Turan, Serap; Jhangiani, Shalini N; van den Akker, Focco; Hoppel, Charles L; Salz, Helen K; Lupski, James R; Buchner, David A Journal: Human molecular genetics Issue: Volume 27:Number 11(2018:Jun. 01) Page Start: 1913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. (26th October 2020) Authors: Nistala, Harikiran; Dronzek, John; Gonzaga-Jauregui, Claudia; Chim, Shek Man; Rajamani, Saathyaki; Nuwayhid, Samer; Delgado, Dennis; Burke, Elizabeth; Karaca, Ender; Franklin, Matthew C; Sarangapani, Prasad; Podgorski, Michael; Tang, Yajun; Dominguez, Melissa G; Withers, Marjorie; Deckelbaum, Ron... Journal: Human molecular genetics Issue: Volume 29:Number 21(2020) Page Start: 3516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Issue 16 (26th March 2022) Authors: Huang, Yan; Ma, Mengqi; Mao, Xiao; Pehlivan, Davut; Kanca, Oguz; Un-Candan, Feride; Shu, Li; Akay, Gulsen; Mitani, Tadahiro; Lu, Shenzhao; Candan, Sukru; Wang, Hua; Xiao, Bo; Lupski, James R; Bellen, Hugo J Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2751 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). Issue 10 (17th August 2018) Authors: Wang, Kun; Zhao, Sen; Liu, Bowen; Zhang, Qianqian; Li, Yaqi; Liu, Jiaqi; Shen, Yan; Ding, Xinghuan; Lin, Jiachen; Wu, Yong; Yan, Zihui; Chen, Jia; Li, Xiaoxin; Song, Xiaofei; Niu, Yuchen; Liu, Jian; Chen, Weisheng; Ming, Yue; Du, Renqian; Chen, Cong Journal: Journal of medical genetics Issue: Volume 55:Issue 10(2018) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Issue 5 (12th November 2009) Authors: Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; Proud, Monica; Stocco, Amber; Rodriguez, Diana L; Kozel, Beth A; Sparagana, Steven; Roeder, Elizabeth R... Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Issue 4 (April 2016) Authors: Daly, Adrian F; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W; Naves, Luciana A; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Me... Journal: Endocrine-related cancer Issue: Volume 23:Issue 4(2016) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. (10th October 2018) Authors: Yang, Nan; Wu, Nan; Zhang, Ling; Zhao, Yanxue; Liu, Jiaqi; Liang, Xiangyu; Ren, Xiaojun; Li, Weiyu; Chen, Weisheng; Dong, Shuangshuang; Zhao, Sen; Lin, Jiachen; Xiang, Hang; Xue, Huadan; Chen, Lu; Sun, Hao; Zhang, Jianguo; Shi, Jiangang; Zhang, Shuyang; Lu, Daru Journal: Human molecular genetics Issue: Volume 28:Number 4(2019) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. (28th March 2018) Authors: Jordan, Valerie K; Beck, Tyler F; Hernandez-Garcia, Andres; Kundert, Peter N; Kim, Bum-Jun; Jhangiani, Shalini N; Gambin, Tomasz; Starkovich, Molly; Punetha, Jaya; Paine, Ingrid S; Posey, Jennifer E; Li, Alexander H; Muzny, Donna; Hsu, Chih-Wei; Lashua, Amber J; Sun, Xin; Fernandes, Caraciolo J; ... Journal: Human molecular genetics Issue: Volume 27:Number 12(2018:Jun. 15) Page Start: 2064 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗