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List of works by Ivan Limongelli

A kinetic model-based algorithm to classify NGS short reads by their allele origin

scientific article published on 12 October 2014

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

scientific article

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge

scientific article published on 03 July 2019

BigQ: a NoSQL based framework to handle genomic variants in i2b2.

scientific article published on 29 December 2015

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

scientific article published on 31 August 2013

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

scientific article

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

scientific article published on 07 April 2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

scientific article published on 07 May 2014

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

scientific article published on 15 February 2017

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

scientific article published on 11 March 2013

PaPI: pseudo amino acid composition to score human protein-coding variants.

scientific article published on 19 April 2015

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

scientific article published on 7 January 2015

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