Linda Manwaring

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard et al. · Genetics in Medicine · 2017 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic characteristics of early Wolfram syndrome

Bess A. Marshall, M. Alan Permutt, Alexander Paciorkowski et al. · Orphanet Journal of Rare Diseases · 2013 · 97 citations · Full text

Life Sciences, Endocrinology, Genetics +17

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert et al. · Molecular Psychiatry · 2016 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

Bin Zhang, Marcia Willing, Dorothy K. Grange et al. · American Journal of Medical Genetics Part A · 2015 · 68 citations

Life Sciences, Genetics, Molecular Genetics +17