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Maria Rita Passos-Bueno

Maria Rita Passos-Bueno

D-Index & Metrics

Genetics

D-Index
71
Citations
21251
World Ranking
2175
National Ranking
5

Overview

Maria Rita Passos-Bueno is affiliated with the Universidade de São Paulo in Brazil. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a particular focus on the subfields of Genetics, Molecular Biology, Infectious Diseases, Cognitive Neuroscience, and Immunology.

The scientist's work addresses several main topics, including:

  • Genomic variations and chromosomal abnormalities
  • Autism Spectrum Disorder Research
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Craniofacial Disorders and Treatments
  • Congenital heart defects research
  • Cleft Lip and Palate Research

Frequently publishing in notable venues, their top publication outlets include:

  • bioRxiv (Cold Spring Harbor Laboratory), with 9 publications
  • Research Square (Research Square), with 5 publications
  • American Journal of Medical Genetics Part A, with 4 publications
  • Nature Communications, with 3 publications
  • Molecular Psychiatry, with 3 publications

Among recent papers authored or co-authored by Maria Rita Passos-Bueno are:

  • "Rare coding variation provides insight into the genetic architecture and phenotypic context of autism" (2022) published in Nature Genetics
  • "Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil" (2022) published in Nature Communications
  • "Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder" (2020) published in Molecular Psychiatry
  • "MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals" (2021) published in Frontiers in Immunology
  • "Updated consensus guidelines on the management of Phelan-McDermid syndrome" (2023) published in American Journal of Medical Genetics Part A

They have collaborated frequently with several researchers, including:

  • Mayana Zatz, with 29 co-authored works
  • Michel Satya Naslavsky, with 25 co-authored works
  • Marília O. Scliar, with 23 co-authored works
  • Guilherme Lopes Yamamoto, with 17 co-authored works
  • Erick C. Castelli, with 14 co-authored works

Best Publications

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

    Isabelle Richard;Odile Broux;Valéerie Allamand;Françoise Fougerousse

  • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

    R Bashir;S Britton;T Strachan;S Keers

  • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.

    V. Nigro;E. De Sa Moreira;G. Piluso;M. Vainzof

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  • Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

    Eloisa S. Moreira;Tim J. Wiltshire;Georgine Faulkner;Antje Nilforoushan

  • Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

    Andréa Laurato Sertié;Vitorio Sossi;AnaMaria A. Camargo;Mayana Zatz

  • Clinical spectrum of fibroblast growth factor receptor mutations.

    M. R. Passos-Bueno;W. R. Wilcox;E. W. Jabs;A. L. Sertie

  • RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

    Dagan Jenkins;Dagan Jenkins;Dominik Seelow;Fernanda Sarquis Jehee;Fernanda Sarquis Jehee;Chad A. Perlyn

  • Caveolin-3 in Muscular Dystrophy

    Elizabeth M. McNally;Elizabeth M. McNally;Eloisa de Sá Moreira;David J. Duggan;Carsten G. Bönnemann

  • Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells.

    André de Mendonça Costa;Daniela F Bueno;Marília T Martins;Irina Kerkis

  • Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

    Guilherme Lopes Yamamoto;Meire Aguena;Monika Gos;Christina Hung

  • Exomic variants of an elderly cohort of Brazilians in the ABraOM database

    Michel Satya Naslavsky;Guilherme Lopes Yamamoto;Tatiana Ferreira de Almeida;Suzana A. M. Ezquina

  • Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    K. Griesi-Oliveira;A. Acab;A. R. Gupta;D. Y. Sunaga

  • Stem cell proliferation under low intensity laser irradiation: a preliminary study.

    Fernanda de P. Eduardo;Daniela F. Bueno;Patricia M. de Freitas;Márcia Martins Marques

  • The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

    M. Vainzof;M. R. Passos-Bueno;M. Canovas;E. S. Moreira

  • Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

    E. M. Mcnally;M. R. Passos-Bueno;C. G. Bönnemann;M. Vainzof

  • Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

    Mayana Zatz;Debora Rapaport;Mariz Vainzof;Maria Rita Passos-Bueno

  • The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.

    Mayana Zatz;Suely K. Marie;Antonia Cerqueira;Mariz Vainzof

  • Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

    Maria Rita Passos-Bueno;Andréa L. Sertié;Fernanda S. Jehee;Roberto Fanganiello

Frequent Co-Authors

Mayana Zatz
Mayana Zatz Universidade de São Paulo
Mariz Vainzof
Mariz Vainzof Universidade de São Paulo
Carla Rosenberg
Carla Rosenberg Universidade de São Paulo
Alexandre C. Pereira
Alexandre C. Pereira Universidade de São Paulo
Ethylin Wang Jabs
Ethylin Wang Jabs Icahn School of Medicine at Mount Sinai
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Egbert Bakker
Egbert Bakker Leiden University Medical Center
Andrew O.M. Wilkie
Andrew O.M. Wilkie University of Oxford
Aarno Palotie
Aarno Palotie University of Helsinki
Mark J. Daly
Mark J. Daly Massachusetts General Hospital

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