Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2045-2322

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Clinical exome sequencing for inherited retinal degenerations at a tertiary care center ; volume:12 ; number:1 ; day:7 ; month:6 ; year:2022 ; pages:1-9 ; date:12.2022
Scientific reports ; 12, Heft 1 (7.6.2022), 1-9, 12.2022

Creator: Ganapathi, Mythily
Thomas-Wilson, Amanda
Buchovecky, Christie
Dharmadhikari, Avinash
Barua, Subit
Lee, Winston
Ruan, Merry Z. C.
Soucy, Megan
Ragi, Sara
Tanaka, Joy
Clark, Lorraine N.
Naini, Ali B.
Liao, Jun
Mansukhani, Mahesh
Tsang, Stephen
Jobanputra, Vaidehi

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41598-022-13026-2

URN: urn:nbn:de:101:1-2022080420555800519597

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:26 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Ganapathi, Mythily
Thomas-Wilson, Amanda
Buchovecky, Christie
Dharmadhikari, Avinash
Barua, Subit
Lee, Winston
Ruan, Merry Z. C.
Soucy, Megan
Ragi, Sara
Tanaka, Joy
Clark, Lorraine N.
Naini, Ali B.
Liao, Jun
Mansukhani, Mahesh
Tsang, Stephen
Jobanputra, Vaidehi
SpringerLink (Online service)

Other Objects (12)

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Related objects

Reset password