Associated Papers
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
Kakar N et al.
American Journal of Medical Genetics. Part A, 2018
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.
Chen LS et al.
Genetics and Molecular Research : Gmr, 2016
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
McInerney-Leo AM et al.
Clinical Genetics, 2015
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
McInerney-Leo AM et al.
American Journal of Human Genetics, 2013
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