Antonio Novelli

Saint Camillus International University of Health and Medical Sciences

Also affiliated with Bambino Gesù Children's Hospital

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 5%percentile

0.461Author DataRank

Indexed papers

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Papers

Driven by 39 papers — median percentile 59. Top paper: “Inhibition of HECT E3 ligases as potential therapy for COVID-19”.

Inhibition of HECT E3 ligases as potential therapy for COVID-19

Cell Death and Disease(2021)10.1038/s41419-021-03513-1

N/A

1.5DataRank · unranked

57 citations

Jing Liu, Michela Biancolella, Tonino Alonzi, Antonio Novelli, J. J. Patten +38 more

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Genome Medicine(2023)10.1186/s13073-023-01173-8

N/A

1.5DataRank · unranked

78 citations

Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner +95 more

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Science Immunology(2021)10.1126/sciimmunol.abl4348

N/A

0.907DataRank · unranked

422 citations

Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj +95 more

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Nature(2023)10.1038/s41586-023-06717-x

N/A

0.704DataRank · unranked

108 citations

Audrey V. Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Jérémie Rosain +95 more

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

medRxiv(2022)10.1101/2022.02.15.22270795

N/A

0.373DataRank · unranked

11 citations

Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand +95 more

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100300

N/A

0.306DataRank · unranked

6 citations

Elizabeth T. Cirulli, Iva Neveux, Evangelos Bellos, Ryan S. Thwaites, Kelly M. Schiabor Barrett +79 more

Exploring the Clinical Spectrum of HUWE1 ‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.63959

N/A

0.292DataRank · unranked

6 citations

Elia Marco Paolo Minale, Camilla Meossi, Stefano Pagano, Rosanna Trovato, Emanuele Agolini +6 more

Human genetic and immunological determinants of critical COVID-19 pneumonia

Nature(2022)10.1038/s41586-022-04447-0

N/A

0DataRank · unranked

393 citations

Paul Bastard, COVID Human Genetic Effort, Adem Karbuz, Adrian Gervais, Ahmad Abou Tayoun +95 more

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

The Journal of Experimental Medicine(2022)10.1084/jem.20220514

N/A

0DataRank · unranked

130 citations

Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais, Tom Le Voyer +95 more

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

The Journal of Experimental Medicine(2022)10.1084/jem.20220131

N/A

0DataRank · unranked

117 citations

Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano +94 more

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Science Immunology(2022)10.1126/sciimmunol.abp8966

N/A

0DataRank · unranked

77 citations

Sara E. Vazquez, Jamin Liu, Matthew T. Laurie, Chung‐Yu Wang, Adrian Gervais +95 more

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

The Journal of Experimental Medicine(2022)10.1084/jem.20220202

N/A

0DataRank · unranked

56 citations

Zhiyong Liu, Qian Zhang, Marcela Moncada‐Vélez, Laura Covill, Peng Zhang +94 more

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.11.010

N/A

0DataRank · unranked

41 citations

Laurent Abel, Salah Al-Muhsen, Alessandro Aiuti, Saleh Al‐Muhsen, Fahd Al‐Mulla +63 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain(2020)10.1093/brain/awaa063

N/A

0DataRank · unranked

81 citations

Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy +27 more

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

The Journal of Experimental Medicine(2023)10.1084/jem.20221755

N/A

0DataRank · unranked

114 citations

Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa James +89 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.02.003

N/A

0DataRank · unranked

16 citations

Laurent Abel, Salah Al-Muhsen, Alessandro Aiuti, Fahd Al‐Mulla, Evangelos Andreakos +70 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

The Journal of Experimental Medicine(2024)10.1084/jem.20241413

N/A

0DataRank · unranked

13 citations

Jérémie Le Pen, Nicole A. de Weerd, Marcela Moncada‐Vélez, Marie Materna, Daniel Chieh-Ding Lin +89 more

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

The Journal of Experimental Medicine(2024)10.1084/jem.20240699

N/A

0DataRank · unranked

10 citations

David Santillo, Pierre Vantourout, Heather Jackson, Amédine Duret, Henry J. Hearn +93 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

Journal of Medical Genetics(2024)10.1136/jmg-2023-109799

N/A

0DataRank · unranked

2 citations

Enrico Mingardo, Jil D. Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A. Rosenfeld +34 more

The seven enigmas of SARS-CoV-2: From the past to the future

Journal of Human Immunity(2025)10.70962/jhi.20250149

N/A

0DataRank · unranked

3 citations

Lisa M. Arkin, Paul Bastard, Alexandre Bolze, A. Borghesi, Petter Brodin +64 more

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

Nature Communications(2025)10.1038/s41467-025-65308-8

N/A

0DataRank · unranked

3 citations

Renée M. van der Sluis, Kennith Brian Castelino, Bao‐cun Zhang, Andreas Ronit, Thomas Zillinger +95 more

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

European Journal of Human Genetics(2025)10.1038/s41431-025-01916-8

N/A

0DataRank · unranked

2 citations

Xiaonan Zhao, Nichole Owen, Tom Evans, Muriel Holder‐Espinasse, Nayana Lahiri +28 more

Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia

Human Molecular Genetics(2025)10.1093/hmg/ddaf195

N/A

0DataRank · unranked

0 citations

Rebecca C. Spillmann, David A. Wenger, Maria Giovanna Tedesco, Malene Brohus, Antonio Novelli +24 more

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Genes(2023)10.3390/genes14122157

N/A

0DataRank · unranked

0 citations

Gioia Mastromoro, Bárbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni +5 more

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

medRxiv(2022)10.1101/2022.10.22.22281221

N/A

0DataRank · unranked

10 citations

Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner, Yu Zhang +95 more

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.07.003

N/A

0DataRank · unranked

54 citations

Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa +24 more

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.01.014902

N/A

0DataRank · unranked

7 citations

Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa +23 more

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

The Journal of Experimental Medicine(2021)10.1084/jem.20210446

N/A

0DataRank · unranked

150 citations

Petter Brodin, Aurélie Cobat, Catherine M. Biggs, Julie Toubiana, C. Lucas +95 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Antonio Novelli

Indexed papers

Top data-sharing exemplar

Papers