Niki Hart‐Holden

Mutations of <i>VMD2</i> Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Jill Yardley, Bart P. Leroy, Niki Hart‐Holden et al. · Investigative Ophthalmology & Visual Science · 2004 · 226 citations · Full text

<i>RPGR</i>mutation analysis and disease: an update

Xinhua Shu, Graeme C. Black, Jacqueline M. Rice et al. · Human Mutation · 2006 · 132 citations

Mutation-based Testing, Signal Transduction, Protein Function +12

Genetic analysis of mitochondrial complex II subunits <i>SDHD</i>, <i>SDHB</i> and <i>SDHC</i> in paraganglioma and phaeochromocytoma susceptibility

Dewi Astuti, Niki Hart‐Holden, Farida Latif et al. · Clinical Endocrinology · 2003 · 107 citations

Refined Genetic and Physical Localization of the Wagner Disease (WGN1) Locus and the Genes CRTL1 and CSPG2 to a 2- to 2.5-cM Region of Chromosome 5q14.3

Rahat Perveen, Niki Hart‐Holden, Michael J. Dixon et al. · Genomics · 1999 · 49 citations

Disease Mechanism, Genetic Disorder, Medicine +7

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Bohdan Kousal, Pavlína Skalická, Lucie Valesova et al. · PubMed · 2014 · 15 citations · Full text