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Author/Creator Llaci, Lorida

1. A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. Issue 12 (8th October 2019)

Authors:
Kari, Elina; Llaci, Lorida; Go, John L.; Naymik, Marcus; Knowles, James A.; Leal, Suzanne M.; Rangasamy, Sampath; Huentelman, Matthew J.; Friedman, Rick A.; Schrauwen, Isabelle
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 12(2019)
Page Start:
n/a
Record Type:
Journal Article
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2. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype. Issue 7 (16th July 2018)

Authors:
Balak, Chris; Belnap, Newell; Ramsey, Keri; Joss, Shelagh; Devriendt, Koen; Naymik, Marcus; Jepsen, Wayne; Siniard, Ashley L.; Szelinger, Szabolcs; Parker, Mary E.; Richholt, Ryan; Izatt, Tyler; LaFleur, Madison; Terraf, Panieh; Llaci, Lorida; De Both, Matt; Piras, Ignazio S.; Rangasamy, Sampathk...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1549
Record Type:
Journal Article
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5. Exploring genome-wide DNA methylation patterns in Aicardi syndrome. (November 2017)

Authors:
Piras, Ignazio S; Mills, Gabrielle; Llaci, Lorida; Naymik, Marcus; Ramsey, Keri; Belnap, Newell; Balak, Chris D; Jepsen, Wayne M; Szelinger, Szabolcs; Siniard, Ashley L; Lewis, Candace R; LaFleur, Madison; Richholt, Ryan F; De Both, Matt D; Avela, Kristiina; Rangasamy, Sampathkumar; Craig, David ...
Journal:
Epigenomics
Issue:
Volume 9:Number 11(2017)
Page Start:
1373
Record Type:
Journal Article
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7. Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy. (June 2020)

Authors:
Rangasamy, Sampathkumar; Monickaraj, Finny; Legendre, Christophe; Cabrera, Andrea P.; Llaci, Lorida; Bilagody, Cherae; McGuire, Paul; Das, Arup
Journal:
Experimental eye research
Issue:
Volume 195(2020)
Page Start:
Record Type:
Journal Article
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8. Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2. Issue 2 (24th June 2019)

Authors:
Jepsen, Wayne M.; Ramsey, Keri; Szelinger, Szabolcs; Llaci, Lorida; Balak, Chris; Belnap, Newell; Bilagody, Cherae; De Both, Matthew; Gupta, Raj; Naymik, Marcus; Pandey, Richa; Piras, Ignazio S.; Sanchez‐Castillo, Meredith; Rangasamy, Sampathkumar; Narayanan, Vinodh; Huentelman, Matthew J.
Journal:
Clinical genetics
Issue:
Volume 96:Issue 2(2019)
Page Start:
183
Record Type:
Journal Article
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