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European Journal of Human Genetics : EJHG|July 21, 2021
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer riskPilar Mur, Lorena Magraner-Pardo, Sandra García-Mulero, et al.
European Journal of Human Genetics : EJHG|May 26, 2022
Assessing the contribution of genetic nurture to refractive errorJeremy A Guggenheim, Rosie Clark, Tetyana Zayats, et al.
European Journal of Human Genetics : EJHG|June 5, 2021
Contribution of common risk variants to multiple sclerosis in Orkney and ShetlandCatriona L K Barnes, Caroline Hayward, David J Porteous, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case reportIris B A W Te Paske, José Garcia-Pelaez, Anna K Sommer, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG|January 8, 2021
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disordersBertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
European Journal of Human Genetics : EJHG|March 12, 2020
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disabilityIris G M Wijnen, Hermine E Veenstra-Knol, Fleur Vansenne, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
European Journal of Human Genetics : EJHG|April 3, 2020
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disabilityKatherine A Benson, Maire White, Nicholas M Allen, et al.
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