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Author/Creator Sangermano, Riccardo

1. A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. (3rd February 2020)

Authors:
Bronstein, Revital; Capowski, Elizabeth E; Mehrotra, Sudeep; Jansen, Alex D; Navarro-Gomez, Daniel; Maher, Mathew; Place, Emily; Sangermano, Riccardo; Bujakowska, Kinga M; Gamm, David M; Pierce, Eric A
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
967
Record Type:
Journal Article
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2. Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant. Issue 1 (January 2015)

Authors:
Bax, Nathalie M.; Sangermano, Riccardo; Roosing, Susanne; Thiadens, Alberta A.H.J.; Hoefsloot, Lies H.; van den Born, L. Ingeborgh; Phan, Milan; Klevering, B. Jeroen; Westeneng‐van Haaften, Carla; Braun, Terry A.; Zonneveld‐Vrieling, Marijke N.; de Wijs, Ilse; Mutlu, Merve; Stone, Edwin M.; den H...
Journal:
Human mutation
Issue:
Volume 36:Issue 1(2015:Jan.)
Page Start:
43
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. (4th May 2022)

Authors:
Catomeris, Andrew J.; Ballios, Brian G.; Sangermano, Riccardo; Wagner, Naomi E.; Comander, Jason I.; Pierce, Eric A.; Place, Emily M.; Bujakowska, Kinga M.; Huckfeldt, Rachel M.
Journal:
Ophthalmic genetics
Issue:
Volume 43:Number 3(2022)
Page Start:
332
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗