Publications by authors named "Tom Cushing"

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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shino Shimada, Bobby G Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Tom Cushing

J Med Genet· July 2022

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Sanaa Choufani, William T Gibson, Andrei L Turinsky, Brian H Y Chung, Tianren Wang, Tom Cushing

Am J Hum Genet· May 2020

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Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome.
Marina S Oren, Jenny E Camacho, Hongyan Xie, Jean Lowe, Tom Cushing

Clin Case Rep· May 2019

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Tom Cushing

Nat Genet· January 2017

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Tom Cushing

Am J Med Genet A· December 2013

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Tom Cushing

Am J Hum Genet· February 2013

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Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Jill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, Tom Cushing, Salmo Raskin

Am J Med Genet A· August 2011

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