Filippo Vairo - Medical Genetics Service, Hospital de Clínicas de Porto Alegre;Post Graduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul;Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul

基本信息

浏览量：32

职业迁徙

个人简介

Filippo Vairo currently works at the Department of Clinical Genomics, Mayo Clinic - Rochester. Filippo does research in Genetics.

研究兴趣

论文共 231 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis

Ghadah Alrehaili,Jennifer Kemppainen,Sanjay Kalra,Filippo Pinto e Vairo,Teng Moua,Eunhee S. Yi,Alejandro Ferrer,Mrinal M. Patnaik,Eva M. Carmona

LUNG（2024）

引用0浏览0WOS引用

Further Delineation of the Rare GDACCF (global Developmental Delay, Absent or Hypoplastic Corpus Callosum, Dysmorphic Facies Syndrome): Genotype and Phenotype of 22 Patients with ZNF148 Mutations

JOURNAL OF MEDICAL GENETICSno. 2 (2024): 132-141

引用0浏览0WOS引用

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy

Annals of neurologyno. 5 (2024): 855-870

引用0浏览0WOS引用

Implementation of Genomic Medicine for Rare Disease in a Tertiary Healthcare System: Mayo Clinic Program for Rare and Undiagnosed Diseases (praud) (vol 21, 410, 2023)

Filippo Pinto e Vairo,Jennifer L. Kemppainen,Carolyn R. Rohrer Vitek, Denise A. Whalen,Kayla J. Kolbert,Kaitlin J. Sikkink,Sarah A. Kroc,Teresa Kruisselbrink,Gabrielle F. Shupe,Alyssa K. Knudson,Elizabeth M. Burke,Elle C. Loftus,Lorelei A. Bandel,Carri A. Prochnow,Lindsay A. Mulvihill,Brittany Thomas,Dale M. Gable, Courtney B. Graddy,Giovanna G. Moreno Garzon,Idara U. Ekpoh,Eva M. Carmona Porquera, Fernando C. Fervenza,Marie C. Hogan,Mireille El Ters,Kenneth J. Warrington,John M. Davis,Matthew J. Koster,Amir B. Orandi,Matthew L. Basiaga,Adrian Vella,Seema Kumar,Ana L. Creo,Aida N. Lteif,Siobhan T. Pittock,Peter J. Tebben,Ejigayehu G. Abate,Avni Y. Joshi,Elizabeth H. Ristagno,Mrinal S. Patnaik,Lisa A. Schimmenti,Radhika Dhamija,Sonia M. Sabrowsky,Klaas J. Wierenga,Mira T. Keddis,Niloy Jewel J. Samadder,Richard J. Presutti,Steven I. Robinson,Michael C. Stephens,Lewis R. Roberts,William A. Faubion,Sherilyn W. Driscoll,Lily C. Wong-Kisiel,Duygu Selcen,Eoin P. Flanagan,Vijay K. Ramanan,Lauren M. Jackson,Michelle L. Mauermann,Victor E. Ortega,Sarah A. Anderson,Stacy L. Aoudia,Eric W. Klee,Tammy M. McAllister,Konstantinos N. Lazaridis

JOURNAL OF TRANSLATIONAL MEDICINEno. 1 (2024)

引用0浏览0引用

Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism

Seul Kee Byeon,Jinyong Kim, Peter Jared Wegwerth,Roman Zenka, John P. George,Filippo Pinto e Vairo,Devin Oglesbee,Matthew J. Schultz,Dietrich Matern,Akhilesh Pandey

Clinical Chemistry (2024)

引用0浏览0WOS引用

Development of a Scoring System to Define Lysosomal Diseases

Tatiana Yuzyuk,Matheus Vernet Machado Bressan Wilk,Jenny Goldstein,Emily Groopman,Shruthi Mohan,Amber Waddell,Raquel Fernandez, Hongjie Chen,Deeksha Bali,Heather Baudet,Lorne Clarke,Christina Hung,Rong Mao,William Craigen,Filippo Pinto e Vairo

Molecular Genetics and Metabolismno. 4 (2024): 108294-108294

引用0浏览0引用

Developing a Scoring System for Gene Curation Prioritization in Lysosomal Diseases

Matheus Vernet Machado Bressan Wilke,Jennifer Goldstein,Emily Groopman,Shruthi Mohan,Amber Waddell,Raquel Fernandez, Hongjie Chen,Deeksha Bali,Heather Baudet,Lorne Clarke,Christina Hung,Rong Mao,Tatiana Yuzyuk,William J. Craigen,Filippo Pinto

MOLECULAR GENETICS AND METABOLISMno. 1-2 (2024)

引用0浏览0WOS引用

Cardiometabolic Risk Markers in Children with Obesity and Variants in MC4R Pathway-Related Genes

Mostafa Salama,Filippo Pinto e Vairo,Roland Hentz,Alaa Al Nofal,Sara Hassan,Samar H. Ibrahim,Aida Lteif,Ana Creo,Siobhan Pittock,Seema Kumar

JOURNAL OF THE ENDOCRINE SOCIETYno. 9 (2024)

引用0浏览0WOS引用

P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases

Jan Verheijen,Nancy William,Marta Figueiral,Rory Olson,Deepak Panwar,Collin Osborne,Filippo Pinto e Vairo,Eric Klee

Genetics in Medicine Open (2024): 101242

引用0浏览0引用

An Adult with Cystathionine Beta-Synthase Deficiency, Camptodactyly-Arthropathy-coxa Vara-Pericarditis Syndrome, and Deafness: A Case Report

Karina Carvalho Donis, Marco Antonio Baptista Kalil,Fabiano Poswar,Fernando Kok,Charles Lubianca Kohem,Soraia Poloni,Taciane Borsatto,Filippo Pinto e Vairo,Franciele Cabral Pinheiro,Ida Vanessa Doederlein Schwartz

Genetics and Molecular Biology（2024）

引用0浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn