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Clinical Genetics|June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variantsEleanor Hay, Robert H Henderson, Sahar Mansour, et al.
Parasitology|May 31, 2019
Parasitological research in the molecular ageChristian Selbach, Fátima Jorge, Eddy Dowle, et al.
Human Molecular Genetics|May 11, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disordersSunwoo Lee, Lara Menzies, Eleanor Hay, et al.
British Journal of Cancer|February 20, 2022
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health serviceEamonn R Maher, Julian Adlard, Julian Barwell, et al.
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Medrxiv : the Preprint Server for Health Sciences|April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
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