1. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. Issue 3 (7th August 2020) Authors: Schiff, Elena R.; Daich Varela, Malena; Robson, Anthony G.; Pierpoint, Karen; Ba‐Abbad, Rola; Nutan, Savita; Zein, Wadih M.; Ullah, Ehsan; Huryn, Laryssa A.; Tuupanen, Sari; Mahroo, Omar A.; Michaelides, Michel; Burke, Derek; Harvey, Katie; Arno, Gavin; Hufnagel, Robert B.; Webster, Andrew R. Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 3(2020) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort. (6th October 2020) Authors: Serpen, Jasmine Y.; Prasov, Lev; Zein, Wadih M.; Cukras, Catherine A.; Cunningham, Denise; Murphy, Elizabeth C.; Turriff, Amy; Brooks, Brian P.; Huryn, Laryssa A. Other Names: Baiocchi Stefano Academic Editor. Journal: Journal of ophthalmology Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comprehensive Review of the Genetics of Albinism. (November 2018) Authors: Jauregui, Ramon; Huryn, Laryssa A.; Brooks, Brian P. Journal: Journal of visual impairment & blindness Issue: Volume 112:Number 6(2018) Page Start: 683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. Issue 3 (5th February 2020) Authors: Prasov, Lev; Ullah, Ehsan; Turriff, Amy E.; Warner, Blake M.; Conley, Julie; Mark, Paul R.; Hufnagel, Robert B.; Huryn, Laryssa A. Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Issue 12 (4th October 2018) Authors: Han, Chen G.; O'Brien, Kevin J.; Coon, Lea M.; Majerus, Julie A.; Huryn, Laryssa A.; Haroutunian, Sara G.; Moka, Nagabhishek; Introne, Wendy J.; Macnamara, Ellen; Gahl, William A.; Malicdan, May Christine V.; Chen, Dong; Krishnan, Koyamangalath; Gochuico, Bernadette R. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. Issue 3 (31st August 2020) Authors: Varela, Malena Daich; Jani, Priyam; Zein, Wadih M.; D'Souza, Precilla; Wolfe, Lynne; Chisholm, Jennifer; Zalewski, Christopher; Adams, David; Warner, Blake M.; Huryn, Laryssa A.; Hufnagel, Robert B. Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 3(2020) Page Start: 618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗