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Author/Creator Lupski, James R

3. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. Issue 11 (5th October 2012)

Authors:
Bi, Weimin; Probst, Frank J; Wiszniewska, Joanna; Plunkett, Katie; Roney, Erin K; Carter, Brian S; Williams, Misti D; Stankiewicz, Pawel; Patel, Ankita; Stevens, Cathy A; Lupski, James R; Cheung, Sau Wai
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 11(2012)
Page Start:
681
Record Type:
Journal Article
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4. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. Issue 1 (22nd August 2016)

Authors:
Scott, Daryl A; Hernandez-Garcia, Andres; Azamian, Mahshid S; Jordan, Valerie K; Kim, Bum Jun; Starkovich, Molly; Zhang, Jinglan; Wong, Lee-Jun; Darilek, Sandra A; Breman, Amy M; Yang, Yaping; Lupski, James R; Jiwani, Amyn K; Das, Bibhuti; Lalani, Seema R; Iglesias, Alejandro D; Rosenfeld, Jill A...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 1(2017)
Page Start:
47
Record Type:
Journal Article
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5. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Issue 19 (2nd March 2022)

Authors:
Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 19(2022)
Page Start:
3231
Record Type:
Journal Article
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6. Diagnostic yield and clinical effects of exome sequencing analysis in patients with early-onset scoliosis. Issue 1 (October 2019)

Authors:
Zhao, Sen; Zhang, Yuanqiang; Chen, Weisheng; Wang, Shengru; Liu, Pengfei; Zhang, Shuyang; Wise, Carol A; Lupski, James R; Wu, Zhihong; Qiu, Guixing; Zhang, Jianguo; Wu, Nan
Journal:
Lancet
Issue:
Volume 394(2019)Special Issue 1
Page Start:
S79
Record Type:
Journal Article
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7. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). Issue 1 (7th May 2020)

Authors:
Zhao, Sen; Zhang, Yuanqiang; Chen, Weisheng; Li, Weiyu; Wang, Shengru; Wang, Lianlei; Zhao, Yanxue; Lin, Mao; Ye, Yongyu; Lin, Jiachen; Zheng, Yu; Liu, Jiaqi; Zhao, Hengqiang; Yan, Zihui; Yang, Yongxin; Huang, Yingzhao; Lin, Guanfeng; Chen, Zefu; Zhang, Zhen; Liu, Sen
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 1(2021)
Page Start:
41
Record Type:
Journal Article
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8. Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family. (10th August 2019)

Authors:
Ding, Xinghuan; Zhao, Sen; Zhang, Qianqian; Yan, Zihui; Wang, Yang; Wu, Yong; Li, Xiaoxin; Liu, Jian; Niu, Yuchen; Zhang, Yisen; Zhang, Mingqi; Wang, Huizi; Zhang, Ying; Chen, Weisheng; Yang, Xin-Zhuang; Liu, Pengfei; Posey, Jennifer E; Lupski, James R; Wu, Zhihong; Yang, Xinjian
Journal:
Journal of neurointerventional surgery
Issue:
Volume 12:Number 2(2020)
Page Start:
221
Record Type:
Journal Article
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9. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). (22nd January 2020)

Authors:
Chen, Shan; Jain, Mahim; Jhangiani, Shalini; Akdemir, Zeynep C; Campeau, Philippe M; Klein, Robert F; Nielson, Carrie; Dai, Hongzheng; Muzny, Donna M; Boerwinkle, Eric; Gibbs, Richard A; Orwoll, Eric S; Lupski, James R; Posey, Jennifer E; Lee, Brendan
Journal:
JBMR plus
Issue:
Volume 4:Number 3(2020)
Page Start:
n/a
Record Type:
Journal Article
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10. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. Issue 7 (11th July 2012)

Authors:
Benito-Sanz, Sara; Royo, Jose Luis; Barroso, Eva; Paumard-Hernández, Beatriz; Barreda-Bonis, Ana C; Liu, Pengfei; Gracía, Ricardo; Lupski, James R; Campos-Barros, Ángel; Gómez-Skarmeta, José Luis; Heath, Karen Elise
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 7(2012)
Page Start:
442
Record Type:
Journal Article
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