Personal information

Keywords

genetics, molecular biology, craniofacial diseases, spinal muscular atrophy, rare diseases, newborn screening

Countries

Brazil

Activities

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Employment (3)

Instituto Jô Clemente: São Paulo, São Paulo, BR

2022-06-07 to present | Supervisor of the Molecular Biology Laboratory and Researcher (Reference Service in Neonatal Screening (SRTN))
Employment
Source: Self-asserted source
Vanessa Romanelli Tavares

Instituto Jô Clemente: São Paulo, São Paulo, BR

2021-01-01 to 2022-06-06 | Scientific Consultant (Research, Innovation and Teaching Center)
Employment
Source: Self-asserted source
Vanessa Romanelli Tavares

University of São Paulo: São Paulo, São Paulo, BR

2009-01 to 2020-07 | Postdoctoral Research Fellow (Genetics and Evolutionary Biology)
Employment
Source: Self-asserted source
Vanessa Romanelli Tavares

Education and qualifications (3)

University of São Paulo: São Paulo, São Paulo, BR

Master (Genetics and Evolutionary Biology)
Education
Source: Self-asserted source
Vanessa Romanelli Tavares

University of São Paulo: São Paulo, São Paulo, BR

Ph.D. (Genetics and Evolutionary Biology)
Education
Source: Self-asserted source
Vanessa Romanelli Tavares

Harvard University: Cambridge, MA, US

Continuing education (T.H. Chan School of Public Health - Principals and Practice in Clinical Research)
Education
Source: Self-asserted source
Vanessa Romanelli Tavares

Professional activities (3)

Harvard University: Cambridge, MA, US

2019-03 to 2020-11 | Monitor (2019) Teaching Assistent (2020) (T.H. Chan School of Public Health - Principals and Practice in Clinical Research)
Service
Source: Self-asserted source
Vanessa Romanelli Tavares

Harvard T.H. Chan School of Public Health: Boston, MA, US

2020 | Top performer Teaching Assistant in 2020 PPCR program (Center for Executive and Continuing Professional Education in Principles and Practice of Clinical Research)
Distinction
Source: Self-asserted source
Vanessa Romanelli Tavares

University of São Paulo: São Paulo, São Paulo, BR

2014 | Ph.D. Oswaldo Frota-Pessoa Award of Incentive to Scientific Research (Genetics and Evolutionary Biology)
Distinction
Source: Self-asserted source
Vanessa Romanelli Tavares

Funding (1)

Pilot Project for Newborn Screening of 5q Spinal Muscular Atrophy (5q SMA) in the State of São Paulo, Brazil

2022-12 to 2025-03 | Grant
Biogen, Roche, and Novartis (-, US)
GRANT_NUMBER:

BR-SMG-12135

GRANT_NUMBER:

ECLM-2022-1707
Source: Self-asserted source
Vanessa Romanelli Tavares

Works (10)

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening

Genes
2024-06-29 | Journal article
DOI: 10.3390/genes15070858
Contributors: Vanessa L. Romanelli Tavares; Rodrigo Holanda Mendonça; Maytê S. Toledo; Sônia M. Hadachi; Carmela M. Grindler; Edmar Zanoteli; Wilson Marques, Jr.; Acary S. B. Oliveira; Paulo Breinis; Maria da P. A. Morita et al.
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

Journal of Medical Genetics
2022-09 | Journal article
DOI: 10.1136/jmedgenet-2021-107825
Contributors: Vanessa Luiza Romanelli Tavares; Sofia Ligia Guimarães-Ramos; Yan Zhou; Cibele Masotti; Suzana Ezquina; Danielle de Paula Moreira; Henk Buermans; Renato S Freitas; Johan T Den Dunnen; Stephen R F Twigg et al.
Source: check_circle
Crossref

Perspectivas e Desafios em um Novo Cenário para a Atrofia Muscular Espinhal 5q

Revista DI
2021-12-01 | Magazine article
Contributors: Vanessa Romanelli Tavares
Source: Self-asserted source
Vanessa Romanelli Tavares

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs

International Journal of Neonatal Screening
2021-08-11 | Journal article
DOI: 10.3390/ijns7030053
Part of ISSN: 2409-515X
Source: Self-asserted source
Vanessa Romanelli Tavares
grade
Preferred source (of 3)‎

IMPORTANCE trial: a provisional study-design of a single-center, phase II, double-blinded, placebo-controlled, randomized, 4-week study to compare the efficacy and safety of intranasal esketamine in chronic opioid refractory pain [version 1; peer review: 2 approved]

2021-01-22 | Journal article
DOI: 10.12688/f1000research.27809.1
Part of ISSN: 2046-1402
Contributors: Mauricio Fernandes; Magdalena Schelotto; Philipp Maximilian Doldi; Giovanna Milani; Abul Andrés Ariza Manzano; Doriam Perera Valdivia; Alexandra Marie Winter Matos; Yasmin Hamdy Abdelrahim; Shaza Ahmed Hamad Bek; Benito K. Benitez et al.
Source: check_circle
F1000

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.

Molecular syndromology
2018-07-03 | Journal article
DOI: 10.1159/000490635
PMID: 30976278
PMC: PMC6422142
Source: Self-asserted source
Vanessa Romanelli Tavares

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

American journal of medical genetics. Part A
2017-04-01 | Journal article
DOI: 10.1002/ajmg.a.38101
PMID: 28328130
Source: Self-asserted source
Vanessa Romanelli Tavares

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

European journal of human genetics : EJHG
2014-07-16 | Journal article
DOI: 10.1038/ejhg.2014.132
PMID: 25026904
PMC: PMC4666574
Source: Self-asserted source
Vanessa Romanelli Tavares

Auriculo-condylar syndrome. Confronting a diagnostic challenge.

American journal of medical genetics. Part A
2011-11-21 | Journal article
DOI: 10.1002/ajmg.a.34337
PMID: 22105959
Source: Self-asserted source
Vanessa Romanelli Tavares

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

American journal of medical genetics. Part A
2011-04-04 | Journal article
DOI: 10.1002/ajmg.a.33826
PMID: 21465646
Source: Self-asserted source
Vanessa Romanelli Tavares
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