Lonneke Wigman-Haer

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 62 publications

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.

Journal: Investigative ophthalmology & visual science

Published: August 03, 2026

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Journal: NPJ genomic medicine

Published: March 25, 2026

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

Journal: JAMA ophthalmology

Published: December 04, 2025

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Journal: Human genetics

Published: June 20, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Journal: Journal of the Association for Research in Otolaryngology : JARO

Published: January 16, 2025

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Journal: NPJ genomic medicine

Published: November 19, 2024

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Journal: NPJ genomic medicine

Published: November 19, 2024

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Journal: NPJ genomic medicine

Published: November 19, 2024

Showing 1-12 of 62

Last Updated: 09/26/2026