John Christodoulou

Also affiliated with The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne Health

Biochemistry, Genetics and Molecular Biology

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 46 papers. Top paper: “Quantifying constraint in the human mitochondrial genome”.

Quantifying constraint in the human mitochondrial genome

Nature(2024)10.1038/s41586-024-08048-x

N/A

1.1DataRank · unranked

58 citations

Kaiyue Ma, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao +12 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

Consultation informs strategies to improve functional evidence use in variant classification

medRxiv(2024)10.1101/2024.12.04.24318523

N/A

0.208DataRank · unranked

3 citations

Bronwyn Terrill, Emma Tudini, Maddison E. McKenzie, Corrina Cliffe, Christopher N Hahn +12 more

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

Movement Disorders(2020)10.1002/mds.28105

N/A

0DataRank · unranked

21 citations

David J. Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M. White +4 more

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

The Journal of Experimental Medicine(2020)10.1084/jem.20192040

N/A

0DataRank · unranked

40 citations

Syed Mukhtar Ahmed, Felicity Collins, Mark J. Cowley, Annalisa Vetro, Russell C. Dale +14 more

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 more

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.005

N/A

0DataRank · unranked

24 citations

Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins +13 more

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder

medRxiv(2020)10.1101/2020.07.27.20162974

N/A

0DataRank · unranked

2 citations

Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline M. Mebane, Laura Hamm +8 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100026

N/A

0DataRank · unranked

91 citations

Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline M. Mebane, Laura Hamm +8 more

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

Nature Immunology(2021)10.1038/s41590-021-01030-z

N/A

0DataRank · unranked

72 citations

Laurent Abel, Donald C. Vinh, Elżbieta Kaja, Beth A. Drolet, Qian Zhang +51 more

Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β

Journal of Clinical Immunology(2021)10.1007/s10875-021-01068-6

N/A

0DataRank · unranked

45 citations

Laurent Abel, Paul Bastard, Matthew P. Cheng, Antônio Condino‐Neto, Peter K. Gregersen +30 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

N/A

0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Advanced Genetics(2021)10.1002/ggn2.202100047

N/A

0DataRank · unranked

3 citations

Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock +11 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

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

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA Neurology(2022)10.1001/jamaneurol.2022.0067

N/A

0DataRank · unranked

39 citations

John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik +12 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Drosophila as a diet discovery tool for treating amino acid disorders

Trends in Endocrinology and Metabolism(2022)10.1016/j.tem.2022.12.004

N/A

0DataRank · unranked

12 citations

Felipe Martelli, Jiayi Lin, Oguz Kanca, John Christodoulou, Hugo J. Bellen +3 more

Quantifying constraint in the human mitochondrial genome

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.16.520778

N/A

0DataRank · unranked

10 citations

Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu +9 more

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

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

N/A

0DataRank · unranked

107 citations

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

The Genetic Landscape and Epidemiology of Phenylketonuria

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.006

N/A

0DataRank · unranked

384 citations

Yair Anikster, Amaya Bélanger-Quintana, Alberto B. Burlina, Barbara K. Burton, Carla Carducci +43 more

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Human Molecular Genetics(2023)10.1093/hmg/ddad069

N/A

0DataRank · unranked

28 citations

Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski +14 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 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

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0DataRank · unranked

24 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

The Journal of Experimental Medicine(2024)10.1084/jem.20231725

N/A

0DataRank · unranked

20 citations

Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci +94 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

Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics

Cell Reports(2024)10.1016/j.celrep.2024.113861

N/A

0DataRank · unranked

7 citations

Jiayi Lin, Sarah Mele, Wendy L. Imlach, Oguz Kanca, Christopher K. Barlow +7 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 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

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

Journal of Molecular Diagnostics(2025)10.1016/j.jmoldx.2025.11.006

N/A

0DataRank · unranked

0 citations

Sze Yee Chai, Alicia B. Byrne, Dimitar N. Azmanov, John Christodoulou, Matilda Haas +7 more

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

The Journal of Experimental Medicine(2023)10.1084/jem.20220170

N/A

0DataRank · unranked

56 citations

Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé‐Violán, Àngela Deyà‐Martínez +92 more

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Med(2020)10.1016/j.medj.2020.06.004

N/A

0DataRank · unranked

72 citations

Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera +40 more

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Human Mutation(2020)10.1002/humu.24079

N/A

0DataRank · unranked

39 citations

Nicole J. Van Bergen, Kristen J. Verhey, Cameron J. Nowell, Breane Budaitis, Yang Yue +18 more