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Author/Creator Lupski, James

1. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Issue 1 (December 2016)

Authors:
James, Regis; Campbell, Ian; Chen, Edward; Boone, Philip; Rao, Mitchell; Bainbridge, Matthew; Lupski, James; Yang, Yaping; Eng, Christine; Posey, Jennifer; Shaw, Chad
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Issue 1 (December 2016)

Authors:
Charng, Wu-Lin; Karaca, Ender; Coban Akdemir, Zeynep; Gambin, Tomasz; Atik, Mehmed; Gu, Shen; Posey, Jennifer; Jhangiani, Shalini; Muzny, Donna; Doddapaneni, Harsha; Hu, Jianhong; Boerwinkle, Eric; Gibbs, Richard; Rosenfeld, Jill; Cui, Hong; Xia, Fan; Manickam, Kandamurugu; Yang, Yaping; Faqeih, ...
Journal:
BMC medical genomics
Issue:
Volume 9:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Issue 1 (December 2016)

Authors:
Loviglio, Maria; Beck, Christine; White, Janson; Leleu, Marion; Harel, Tamar; Guex, Nicolas; Niknejad, Anne; Bi, Weimin; Chen, Edward; Crespo, Isaac; Yan, Jiong; Charng, Wu-Lin; Gu, Shen; Fang, Ping; Coban-Akdemir, Zeynep; Shaw, Chad; Jhangiani, Shalini; Muzny, Donna; Gibbs, Richard; Rougemont, J...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016)

Authors:
Eldomery, Mohammad; Akdemir, Zeynep; Vögtle, F.-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini; Zimmerman, Holly; Muzny, Donna; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasann...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Phenotypic expansion illuminates multilocus pathogenic variation. (December 2018)

Authors:
Karaca, Ender; Posey, Jennifer; Coban Akdemir, Zeynep; Pehlivan, Davut; Harel, Tamar; Jhangiani, Shalini; Bayram, Yavuz; Song, Xiaofei; Bahrambeigi, Vahid; Yuregir, Ozge Ozalp; Bozdogan, Sevcan; Yesil, Gozde; Isikay, Sedat; Muzny, Donna; Gibbs, Richard; Lupski, James
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1528
Record Type:
Journal Article
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7. POGZ truncating alleles cause syndromic intellectual disability. Issue 1 (December 2016)

Authors:
White, Janson; Beck, Christine; Harel, Tamar; Posey, Jennifer; Jhangiani, Shalini; Tang, Sha; Farwell, Kelly; Powis, Zöe; Mendelsohn, Nancy; Baker, Janice; Pollack, Lynda; Mason, Kati; Wierenga, Klaas; Arrington, Daniel; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdal...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗