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F

Filippo Pinto e Vairo

Mayo Clinic
H指数:29
被引数:2,899
浏览量:0

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A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies

一种位于RAD21结合界面的新型<em>De Novo STAG1</em>变异与低血糖、反复发热、免疫缺陷和经典粘着素病特征相关

Clinical Genetics
IF2.3
2026-09-270
PRE
Hafiz Muhammad Jafar Hussain; Michael Zimmermann; Stephanie L. Safgren; Joseph D. Farris; Deepak Panwar; Sarah Allen Thurman; Karthik Muthusamy; Raul Urrutia; Myra J. Wick; Filippo Pinto e Vairo; Eric W. Klee
Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression

基于电子健康记录关联的全基因组队列对代谢功能障碍相关脂肪性肝病的分型揭示其病因和进展的多样性

Nature Communications
IF15.7
2026-09-020
OA
Tahmina Sultana Priya; Huihuang Yan; Kirk J. Wangensteen; Stephen Wu; Anthony C. Luehrs; Filippo Pinto e Vairo; Fan Leng; Andres J. Acosta; Robert A. Vierkant; Alina M. Allen; Konstantinos N. Lazaridis; Eric W. Klee; Danfeng Daphne Yao; Shulan Tian
Novel RRAGD variants in autosomal dominant kidney hypomagnesemia and therapeutic perspectives

新发现的常染色体显性遗传性低镁血症中的RRAGD变异及其治疗展望

Kidney International Reports
IF5.7
2025-07-290
OAAI
Anastasia Adella; François Jouret; Leire Madariaga; Pieter A. Leermakers; Pedro Arango; Gema Ariceta; Bodo B. Beck; Anna Bjerre; Detlef Bockenhauer; Paula Coccia; Radhika Dhamija; Fernando de Frutos; Alejandro Garcia-Castano; Sara B. van Katwijk; Jesus Lucas; Thomas Möller; Dominik Müller; Filippo Pinto e Vairo; Melinda Raki; Jonathan Rips; Karl Peter Schlingmann; Hanka Venselaar; Matheus Vernet Machado Bressan Wilke; Tom Nijenhuis; Joost Hoenderop; Jeroen de Baaij
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies

基因型-表型相关性及遗传性TRPC6足细胞病变的临床结局

Nephrology Dialysis Transplantation
IF5.6
2025-06-010
PRE
McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

一种少突胶质细胞沉默子元件构成了层粘连蛋白B1结构变异的致病性影响

NATURE COMMUNICATIONS
IF15.7
2025-02-051
OA
Nmezi, Bruce; Bey, Guillermo Rodriguez; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M.; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F.; Sousa, Sergio B.; Palavra, Filipe; Toro, Camilo; Pinto e Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S.; Bernard, Genevieve; Raininko, Raili; Zhou, Jian; Hainer, Sarah J.; Padiath, Quasar S.
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-02-010
PRE
Goldstein, Jennifer; Balog, Amanda; Bali, Deeksha; Reeves, Emily E. B.; Demirbas, Didem; Fernandez, Raquel; Giliberto, Florencia; Groopman, Emily; Hung, Christina; Lacaria, Melanie; Mao, Rong; Mohan, Shruthi; Peck, Dawn; Pollard, Laura; Rehder, Catherine; Savatt, Juliann; Schmidt, Ryan; St Clair, Pepper; Vairo, Filippo; White, Amy; Wood, Tim; Clarke, Lorne A.
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-11-010
OAAI
Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
ANNALS OF NEUROLOGY
IF7.7
2024-07-302
OA
Dimartino, Paola; Zadorozhna, Mariia; Yumiceba, Veronica; Basile, Anna; Cani, Ilaria; Melo, Uira Souto; Henck, Jana; Breur, Marjolein; Tonon, Caterina; Lodi, Raffaele; Brusco, Alfredo; Pippucci, Tommaso; Koufi, Foteini-Dionysia; Boschetti, Elisa; Ramazzotti, Giulia; Manzoli, Lucia; Ratti, Stefano; Vairo, Filippo Pinto E.; Delatycki, Martin B.; Vaula, Giovanna; Cortelli, Pietro; Bugiani, Marianna; Spielmann, Malte; Giorgio, Elisa
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

单系统疾病患者非诊断性多基因组后外显子组和基因组测序的诊断率

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-05-240
OAAI
Wilke, Matheus V. M. B.; Klee, Eric W.; Dhamija, Radhika; Fervenza, Fernando C.; Thomas, Brittany; Leung, Nelson; Hogan, Marie C.; Hager, Megan M.; Kolbert, Kayla J.; Kemppainen, Jennifer L.; Loftus, Elle C.; Leitzen, Katie M.; Vitek, Carolyn R.; McAllister, Tammy; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e

研究方向

暂未获取到该数据
I
Ida Vanessa Döederlein Schwartz
H 指数:46论文数:613被引数:7,703
E
Eric W. Klee
H 指数:54论文数:461被引数:1.0万
R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
K
Konstantinos N. Lazaridis
H 指数:54论文数:269被引数:1.2万
J
Jennifer L. Kemppainen
H 指数:14论文数:68被引数:656
M
Matheus Vernet Machado Bressan Wilke
H 指数:10论文数:63被引数:201
M
Margot A. Cousin
H 指数:24论文数:85被引数:1,907
D
Deeksha Bali
H 指数:47论文数:199被引数:7,874
L
L. Clarke
H 指数:49论文数:269被引数:8,805
C
Carolina Fischinger Moura de Souza
H 指数:27论文数:291被引数:2,360