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List of works by Mamiko Yamada

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

scientific article published on 31 December 2020

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

scientific article published on 11 September 2019

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

scientific article published on 26 June 2020

Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability

scientific article published on 20 September 2020

IFT172 as the 19th gene causative of oral-facial-digital syndrome

scientific article published on 06 October 2019

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

scientific article published on 30 September 2020

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

scientific article published on 11 August 2020

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome

scientific article published in 2022

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome

scientific article published on 27 August 2020

Role of chimeric transcript formation in the pathogenesis of birth defects

scientific article published on 28 October 2020

SATB2-associated syndrome in patients from Japan: Linguistic profiles

scientific article published on 07 March 2019

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

scientific article published on 15 May 2020

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