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Catherine J. Spellicy
Catherine J. Spellicy
Genetics
Biology
Gene
Dominance (genetics)
Exome sequencing
4
Papers
29
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
2019
Journal of Human Genetics
Catherine J. Spellicy
Yunhui Peng
Leah Olewiler
Sara Cathey
R. Curtis Rogers
Dennis Bartholomew
Jacob Johnson
Emil Alexov
Jennifer A. Lee
Michael J. Friez
Julie R. Jones
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Citations (9)
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome
2018
American Journal of Medical Genetics Part A
Roger E. Stevenson
Victoria Vincent
Catherine J. Spellicy
Michael J. Friez
Alka Chaubey
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Citations (4)
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
2018
European Journal of Human Genetics
Catherine J. Spellicy
Joy Norris
Renee Bend
Caleb P. Bupp
Paul Mester
Tracy Reynolds
Jane H. Dean
Yunhui Peng
Emil Alexov
Charles E. Schwartz
Roger S. Stevenson
Michael J. Friez
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Citations (15)
Transgenerational Inheritance of Familial Lipomyelomeningocele
2017
Journal of Child Neurology
Thomas Larrew
Ramin Eskandari
Kenton R. Holden
Amy Chen
Catherine J. Spellicy
Julie R. Jones
Jennifer A. Lee
Michael J. Lyons
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Citations (1)
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