Julie McCarrier

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Clare V. Logan, Jennie Murray, David Parry et al. · The American Journal of Human Genetics · 2018 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Factors in decision making following genetic counseling for pre‐natal diagnosis of <i>de novo</i> chromosomal rearrangements

Robert Wallerstein, V Strmen, Judy Durcan et al. · Clinical Genetics · 2006 · 43 citations

Life Sciences, Genetics, Molecular Genetics +17

Missense variant contribution to USP9X-female syndrome

Lachlan A. Jolly, Euan Parnell, Alison Gardner et al. · npj Genomic Medicine · 2020 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations

Mariana Moysés‐Oliveira, Giuliana Giannuzzi, Richard J. Fish et al. · Human Mutation · 2017 · 34 citations · Full text

Medicine, Genetics, Molecular Genetics +16