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Elena Schiff

12PUBLICATIONS
78CO-AUTHORS
Microbial geneticsGene expression (incl. microarray and other genome-wide approaches)MechanobiologyGenetic immunologyCondensed matter imaging
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Journal

Publications (12)

Sort by Publication Date:
|Oct 07, 2025
A novel missense <i>TUBB4B</i> 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 <i>USH2A</i> Using Targeted Long-Read Sequencing.

Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute

|Jun 27, 2024
Identification of a Novel Frameshift Variant in <i>MYF5</i> 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

Frequent Collaborators

4 joint publications

Mariya Moosajee

4 joint publications

Omar A Mahroo

3 joint publications

Gavin Arno

2 joint publications

Harry Ostrer

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