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Siying Lin

Showing results (81-90 of 102) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Ophthalmic Research|July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision InstituteGiacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United KingdomWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science|February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United KingdomWilliam A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Pageof 11

Showing results (81-90 of 102) with videos related to

Sort By:
Pageof 11
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Ophthalmic Research|July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision InstituteGiacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United KingdomWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science|February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United KingdomWilliam A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Pageof 11