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Medrxiv : the Preprint Server for Health Sciences
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June 4, 2026
Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Nehir E Kurtas, Alba Sanchis-Juan, Eren Shin, 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 Kingdom
William 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 Associations
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Cell
|
August 2, 2022
A cross-disorder dosage sensitivity map of the human genome
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature Machine Intelligence
|
June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William A Woof, Siying Lin, et al.
American Journal of Human Genetics
|
August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature
|
February 4, 2021
Author Correction: A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature
|
May 29, 2020
A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discovery
Jeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
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of 9
Search research articles
Search
Showing results (71-80 of 83) with videos related to
Sort By:
Page
of 9
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Nehir E Kurtas, Alba Sanchis-Juan, Eren Shin, 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 Kingdom
William 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 Associations
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Cell
|
August 2, 2022
A cross-disorder dosage sensitivity map of the human genome
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature Machine Intelligence
|
June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William A Woof, Siying Lin, et al.
American Journal of Human Genetics
|
August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature
|
February 4, 2021
Author Correction: A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature
|
May 29, 2020
A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discovery
Jeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Page
of 9