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Author/Creator Jacobson, Samuel G

1. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Issue 10 (11th July 2013)

Authors:
Wang, Xia; Wang, Hui; Sun, Vincent; Tuan, Han-Fang; Keser, Vafa; Wang, Keqing; Ren, Huanan; Lopez, Irma; Zaneveld, Jacques E; Siddiqui, Sorath; Bowles, Stephanie; Khan, Ayesha; Salvo, Jason; Jacobson, Samuel G; Iannaccone, Alessandro; Wang, Feng; Birch, David; Heckenlively, John R; Fishman, Geral...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 10(2013)
Page Start:
674
Record Type:
Journal Article
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4. RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). (23rd December 2020)

Authors:
Moreno-Leon, Laura; West, Emma L; O'Hara-Wright, Michelle; Li, Linjing; Nair, Rohini; He, Jie; Anand, Manisha; Sahu, Bhubanananda; Chavali, Venkat Ramana Murthy; Smith, Alexander J; Ali, Robin R; Jacobson, Samuel G; Cideciyan, Artur V; Khanna, Hemant
Journal:
Human molecular genetics
Issue:
Volume 29:Number 22(2020)
Page Start:
3706
Record Type:
Journal Article
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5. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. (25th October 2016)

Authors:
Charng, Jason; Cideciyan, Artur V; Jacobson, Samuel G; Sumaroka, Alexander; Schwartz, Sharon B; Swider, Malgorzata; Roman, Alejandro J; Sheplock, Rebecca; Anand, Manisha; Peden, Marc C; Khanna, Hemant; Heon, Elise; Wright, Alan F; Swaroop, Anand
Journal:
Human molecular genetics
Issue:
Volume 25:Number 24(2016:Dec. 15)
Page Start:
5444
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗