Kathy M. B. Vinette

发表

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.

V. Funanage, Susan M Kirwin, I. Gonzalez, 2007, Fertility and sterility.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

K. Gripp, G. Rosenberger, D. Stabley, 2012, American journal of medical genetics. Part A.

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2‐1

J. Gécz, C. Barnett, J. Nicholl, 2012, American journal of medical genetics. Part A.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

A. Percy, J. Lane, P. Macleod, 2013, American journal of medical genetics. Part A.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

V. Funanage, N. Al-Sannaa, Susan M Kirwin, 2013, Molecular genetics & genomic medicine.

Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic

K. Gripp, V. Funanage, Katherine M Robbins, 2021, Delaware journal of public health.

Brain-Lung-Thyroid Disease

I. Litvan, O. Adam, D. Houghton, 2012, Journal of child neurology.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

A. Percy, J. Lane, P. Macleod, 2013, American journal of medical genetics. Part A.