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1 . Academic Journal
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan
저자
by
Basharat, Rabia
;
de Bruijn, Suzanne E.
;
Zahid, Muhammad
;
Rodenburg, Kim
;
Hitti-Malin, Rebekkah J.
, et al.
소스
In
Experimental Eye Research
July 2024 244
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7 . Academic Journal
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
저자
by
de Bruijn, Suzanne E.
;
Rodenburg, Kim
;
Corominas, Jordi
;
Ben-Yosef, Tamar
;
Reurink, Janine
, et al.
소스
In
Genetics in Medicine
March 2023 25(3)
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7 . Academic Journal
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
저자
by
Reurink, Janine
;
Weisschuh, Nicole
;
Garanto, Alejandro
;
Dockery, Adrian
;
van den Born, L. Ingeborgh
, et al.
소스
In
Human Genetics and Genomics Advances
January 2023
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7 . Academic Journal
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
저자
by
Rodríguez-Hidalgo, María
;
de Bruijn, Suzanne E.
;
Corradi, Zelia
;
Rodenburg, Kim
;
Lara-López, Araceli
, et al.
소스
Frontiers in Genetics; 2023, p1-10, 10p
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7 . Academic Journal
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
저자
by
Basharat, Rabia
;
Rodenburg, Kim
;
Rodríguez-Hidalgo, María
;
Jarral, Afeefa
;
Ullah, Ehsan
, et al.
소스
Genes
. Aug2023, Vol. 14 Issue 8, p1573. 14p.
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7 . Academic Journal
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
저자
by
Smits, Jeroen J.
;
de Bruijn, Suzanne E.
;
Lanting, Cornelis P.
;
Oostrik, Jaap
;
O'Gorman, Luke
, et al.
소스
Human Genetics
. Apr2022, Vol. 141 Issue 3/4, p465-484. 20p.
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7 . Academic Journal
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
저자
by
de Bruijn, Suzanne E.
;
Smits, Jeroen J.
;
Chang Liu
;
Lanting, Cornelis P.
;
Beynon, Andy J.
, et al.
소스
Journal of Medical Genetics; Feb2021, Vol. 58 Issue 2, p96-104, 9p
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7 . Academic Journal
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
저자
by
de Bruijn, Suzanne E.
;
Fiorentino, Alessia
;
Ottaviani, Daniele
;
Fanucchi, Stephanie
;
Melo, Uirá S.
, et al.
소스
American Journal of Human Genetics
. Nov2020, Vol. 107 Issue 5, p802-814. 13p.
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7 .
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
저자
by
Daan M. Panneman
;
Rebekkah J. Hitti-Malin
;
Lara K. Holtes
;
Suzanne E. de Bruijn
;
Janine Reurink
, et al.
소스
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
Frontiers in Cell and Developmental Biology, 11
Frontiers in Cell and Developmental Biology, 11:1112270. Frontiers Media SA
Open Access (OpenAIRE)
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7 . Academic Journal
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
저자
by
de Bruijn, Suzanne E.
;
Verbake, Sanne K.
;
de Vrieze, Erik
;
Kremer, Hannie
;
Cremers, Frans P. M.
, et al.
소스
Journal of Medical Genetics; Oct2018, Vol. 55 Issue 10, p705-712, 8p
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