Confira abaixo os principais materiais publicados pelo Dr.Sérgio Pena a respeito do Exoma:

1) Artigo do Dr Sérgio Pena sobre sequenciamento do EXOMA:

http://www.ncbi.nlm.nih.gov/pubmed/25241110

2) Artigo do Dr Sérgio Pena na revista Clinical EXOME:

http://www.ncbi.nlm.nih.gov/pubmed/25477152

3) Dr. Sérgio Pena publica programa desenvolvido para analisar EXOMA:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423571/

4) Doença rara esclarecida por Dr Sérgio Pena em teste do EXOMA:

http://www.laboratoriogene.com.br/download/Unexplained%20early%20onset%20epileptic%20encephalopathy.pdf

 

Links para Download dos artigos e resumos na íntegra, na versão original:

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2 proposal for a new channelopathy – RESUMO

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2 proposal for a new channelopathy Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis – RESUMO

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis

Mendel,MD a user-friendly online program for clinical exome analysis – RESUMO

Mendel,MD a user-friendly online program for clinical exome analysis

Modulation of expressivity in PDGFRB-related infantile myofibromatosis a role for PTPRG – RESUMO

Modulation of expressivity in PDGFRB-related infantile myofibromatosis a role for PTPRG