Allan Thomas Højland

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report

Morten Krogh Herlin, Vang Quy Le, Allan Thomas Højland et al. · Human Reproduction · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Viorica Chelban, Sarah Wiethoff, Bjørn K. Fabian‐Jessing et al. · Movement Disorders · 2018 · 38 citations · Full text

Life Sciences, Genetics, Neurology +16

First reported adult patient with TARP syndrome: A case report

Allan Thomas Højland, Ihab Bishara Yousef Lolas, Henrik Okkels et al. · American Journal of Medical Genetics Part A · 2018 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

Helena Gásdal Karstensen, Nanna Dahl Rendtorff, Lone Sandbjerg Hindbæk et al. · European Journal of Medical Genetics · 2019 · 17 citations

Medicine, Genetics, Molecular Genetics +11

First reported <i>CABP2</i>‐related non‐syndromic hearing loss in Northern Europe

Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels et al. · Molecular Genetics & Genomic Medicine · 2021 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15