Elena Schiff
12PUBLICATIONS
78CO-AUTHORS
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Publications (12)
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|Oct 07, 2025
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.Lauren Y Cao, Anna Duemler, Emily H Jung
|Aug 09, 2024
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute
|Jun 27, 2024
Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase
|Apr 20, 2023
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.Yiming Wu, Kyle Gettler, Meltem Ece Kars
|Nov 04, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.Paul W Chrystal, Nils J Lambacher, Lance P Doucette
|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1.Elena R Schiff, Nancy Aychoua, Savita Nutan
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Frequent Collaborators
4 joint publications
Mariya Moosajee
4 joint publications
Omar A Mahroo
3 joint publications
Gavin Arno
2 joint publications
Harry Ostrer
2 joint publications
Richard H Duerr
2 joint publications
Hwei Wuen Chan
2 joint publications
Anthony W Segal
2 joint publications
Adam P Levine
2 joint publications
Dalin Li
2 joint publications
Talin Haritunians
