Sergio D Pena

About Sergio D Pena

Sergio D Pena, With an exceptional h-index of 72 and a recent h-index of 35 (since 2020), a distinguished researcher at Universidade Federal de Minas Gerais, specializes in the field of Human genetics, genomics, population genetics.

His recent articles reflect a diverse array of research interests and contributions to the field:

Advances of aneuploidy research in the maternal germline

Peeking into the mysterious world of Trypanosoma cruzi and Chagas disease

Mild phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome 1 caused by a novel VPS33B variant

Diagnostic guidelines in canine and feline chronic otitis.

MQS-PCR: a simple and quick multiplex PCR molecular method for human chromosomal sex determination in DNA samples

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Clinical genomics and precision medicine

An Overview of the Human Genome

Sergio D Pena Information

University

Position

Professor of Biochemistry and Genetics

Citations(all)

19213

Citations(since 2020)

3814

Cited By

17045

hIndex(all)

72

hIndex(since 2020)

35

i10Index(all)

222

i10Index(since 2020)

93

Email

University Profile Page

Google Scholar

Sergio D Pena Skills & Research Interests

Human genetics

genomics

population genetics

Top articles of Sergio D Pena

Title

Journal

Author(s)

Publication Date

Advances of aneuploidy research in the maternal germline

Sergio DJ Pena

2023/5

Peeking into the mysterious world of Trypanosoma cruzi and Chagas disease

Memórias do Instituto Oswaldo Cruz

Andréa M Macedo

Sérgio DJ Pena

2022/5/6

Mild phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome 1 caused by a novel VPS33B variant

Frontiers in Genetics

Natália Duarte Linhares

Eleonora Druve Tavares Fagundes

Alexandre Rodrigues Ferreira

Thaís Costa Nascentes Queiroz

Luiz Roberto da Silva

...

2022/2/25

Diagnostic guidelines in canine and feline chronic otitis.

O Ferrer

JM Vilar

M Encinoso

S Peña

2022

MQS-PCR: a simple and quick multiplex PCR molecular method for human chromosomal sex determination in DNA samples

Genet. Mol. Res

Juliane LF Rocha

Heloisa B Pena

Sérgio DJ Pena

2022

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

bioRxiv

Shridhar Parthasarathy

Sarah M Ruggiero

Antoinette Gelot

Fernanda C Soardi

Bethania FR Ribeiro

...

2022/1/1

Clinical genomics and precision medicine

Genetics and molecular biology

Sérgio DJ Pena

Eduardo Tarazona-Santos

2022/10/10

An Overview of the Human Genome

Sérgio DJ Pena

2021/6/8

DNA Topoisomerase 3α Is Involved in Homologous Recombination Repair and Replication Stress Response in Trypanosoma cruzi

Frontiers in Cell and Developmental Biology

Héllida Marina Costa-Silva

Bruno Carvalho Resende

Adriana Castilhos Souza Umaki

Willian Prado

Marcelo Santos Da Silva

...

2021/5/13

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing

Genetics and Molecular Biology

Natália D Linhares

Piotr Wilk

Elżbieta Wątor

Meire A Tostes

Manfred S Weiss

...

2021/4/19

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Genetics in Medicine

Dong Li

Alanna Strong

Kaitlyn M Shen

David Cassiman

Maria Van Dyck

...

2020/11/27

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Laboratory Investigation

Christopher M Watson

Laura A Crinnion

Helen Lindsay

Rowena Mitchell

Nick Camm

...

2021/4

A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing

Frontiers in Genetics

Carolina Maria de Araújo dos Santos

Ana Helena Heller

Heloisa Barbosa Pena

Sérgio Danilo Junho Pena

2021/10/25

Genetic admixture in Brazil

Sergio DJ Pena

Fabrício R Santos

Eduardo Tarazona‐Santos

2020/12

Differential Modulation of Mouse Heart Gene Expression by Infection With Two Trypanosoma cruzi Strains: A Transcriptome Analysis

Frontiers in Genetics

Tiago Bruno Rezende de Castro

Maria Cecilia Campos Canesso

Mariana Boroni

Daniela Ferreira Chame

Daniela de Laet Souza

...

2020/9/3

The Influence of Recombinational Processes to Induce Dormancy in Trypanosoma cruzi

Frontiers in cellular and infection microbiology

Bruno Carvalho Resende

Anny Carolline Silva Oliveira

Anna Carolina Paganini Guañabens

Bruno Marçal Repolês

Verônica Santana

...

2020/1/28

See List of Professors in Sergio D Pena University(Universidade Federal de Minas Gerais)