Associated Papers
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Paucar M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
39831730 (PubMed )
Supplement: MDS-40-672-s005.pdf
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR
Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations.
Hart MR et al.
Plos Genetics, 2018
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.
Niu Z et al.
Plos One, 2017
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
Alrayes N et al.
Journal of the Neurological Sciences, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › GATK
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
Hong N et al.
Journal of Zhejiang University. Science. B, 2014
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