Publications

2023

Alecu JE, Saffari A, Ziegler M, et al. Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia [published online ahead of print, 2023 Jul 22]. Mov Disord. 2023;10.1002/mds.29524. doi:10.1002/mds.29524
Rabi B. et al. (2023). ‘A Division-wide Biobank and Patient Registry to Catalyze Pediatric Pulmonary Translational Research’, Poster presentation at The American Thoracic Society 2023 Annual Conference
Saffari, A. et al. (2023) ‘The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15’, Brain, 146(5), pp 2003–2015. https://doi.org/10.1093/brain/awac391

2022

Abbasi, W. et al. (2022) ‘Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings’, Human genetics, 141(3-4), pp. 387–400.
Al-Musa, A. et al. (2022) ‘Advances in clinical outcomes: What we have learned during the COVID-19 pandemic’, The Journal of allergy and clinical immunology, 149(2), pp. 569–578.
Alecu, J.E. et al. (2022) ‘Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis’, Annals of clinical and translational neurology, 9(4), pp. 570–576.
Babcock, S.J., Flores-Marin, D. and Thiagarajah, J.R. (2022) ‘The genetics of monogenic intestinal epithelial disorders’, Human genetics [Preprint]. Available at: https://doi.org/10.1007/s00439-022-02501-5.
Berger, K. et al. (2022) ‘Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation’, Journal of personalized medicine, 12(6). Available at: https://doi.org/10.3390/jpm12060919.
Bolton, C. et al. (2022) ‘An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease’, Gastroenterology, 162(3), pp. 859–876.
Brownstein, C. et al. (2022) ‘Prevalence of Rate of Deleterious Copy Number Variants Similar in Early Onset Psychosis and Autism Spectrum Disorders: Implications for Clinical Practice’, Biological psychiatry, 91(9), pp. S56–S57.
Chopra, M. et al. (2022) ‘Mendelian etiologies identified with whole exome sequencing in cerebral palsy’, Annals of clinical and translational neurology, 9(2), pp. 193–205.
Chou, J., Thomas, P.G. and Randolph, A.G. (2022) ‘Immunology of SARS-CoV-2 infection in children’, Nature immunology, 23(2), pp. 177–185.
Collen, L.V., Kim, D.Y., et al. (2022) ‘Clinical Phenotypes and Outcomes in Monogenic versus Non-Monogenic Very Early Onset Inflammatory Bowel Disease’, Journal of Crohn’s & colitis [Preprint]. Available at: https://doi.org/10.1093/ecco-jcc/jjac045.
Collen, L.V., Salgado, C.A., et al. (2022) ‘Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report’, Frontiers in immunology, 13, p. 894648.
Dannheim, K. et al. (2022) ‘Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy’, The American journal of surgical pathology, 46(6), pp. 846–853.
Dohrn, M.F. et al. (2022) ‘De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome’, Neurology, 98(11), pp. 440–445.
Ghalandary, M. et al. (2022) ‘Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses’, Scientific reports, 12(1), p. 3906.
Gordon, R.J., Pappa, H.M., et al. (2022) ‘Bone marrow adiposity in pediatric Crohn’s disease’, Bone, 162, p. 116453.
Gordon, R.J., Wells, R., et al. (2022) ‘Efficacy and Safety of High-dose Cholecalciferol in Patients With Inflammatory Bowel Disease Receiving Infliximab’, Journal of pediatric gastroenterology and nutrition, 74(4), pp. 476–483.
Gutiérrez-Sacristán, A. et al. (2022) ‘Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder’, Journal of the American Medical Informatics Association: JAMIA, 29(2), pp. 230–238.
Kerur, B. et al. (2022) ‘Utilization of Antitumor Necrosis Factor Biologics in Very Early Onset Inflammatory Bowel Disease: A Multicenter Retrospective Cohort Study From North America’, Journal of pediatric gastroenterology and nutrition, 75(1), pp. 64–69.
Lee, IH. et al. (2022). ‘Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort.’ Hum Genomics 16, 67 https://doi.org/10.1186/s40246-022-00440-w
Ouahed, J.D. et al. (2022) ‘Variants in interferon lambda are associated with very early onset inflammatory bowel disease’, bioRxiv. Available at: https://doi.org/10.1101/2022.03.17.22271929.
Perry, J. et al. (2022) ‘Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss’, The Laryngoscope [Preprint]. Available at: https://doi.org/10.1002/lary.30507.
Renella, R. et al. (2022) ‘Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6’, American journal of hematology, 97(1), pp. 18–29.
Sigal, G.B. et al. (2022) ‘Measurement of Severe Acute Respiratory Syndrome Coronavirus 2 Antigens in Plasma of Pediatric Patients With Acute Coronavirus Disease 2019 or Multisystem Inflammatory Syndrome in Children Using an Ultrasensitive and Quantitative Immunoassay’, Clinical infectious diseases: an official publication of the Infectious Diseases Society of America, 75(8), pp. 1351–1358.
Tang, J. et al. (2022) ‘Cross-reactive immunity against the SARS-CoV-2 Omicron variant is low in pediatric patients with prior COVID-19 or MIS-C’, Nature communications, 13(1), p. 2979.
Terek, S. et al. (2022). ‘Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children’, Journal of Personalized Medicine 12, no. 12: 1945. https://doi.org/10.3390/jpm12121945
Wobma, H. et al. (2022) ‘Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach’, Pediatric pulmonology, 57(7), pp. 1577–1587.
Yao, Y. et al. (2022) ‘Mucus sialylation determines intestinal host-commensal homeostasis’, Cell, 185(7), pp. 1172–1188.e28.

2021

Brownstein, C.A. et al. (2021) ‘RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes’, Molecular psychiatry, 26(5), pp. 1706–1718.
Chou, J. et al. (2021) ‘Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C)’, The Journal of allergy and clinical immunology, 148(3), pp. 732–738.e1.
Chung, M.K., et al. (2021) ‘Plasma metabolomics of autism spectrum disorder and influence of shared components in proband families,’ Exposome, 1(1), https://doi.org/10.1093/exposome/osab004
Geva, A. et al. (2021) ‘A high-throughput phenotyping algorithm is portable from adult to pediatric populations’, Journal of the American Medical Informatics Association: JAMIA, 28(6), pp. 1265–1269.
Gutiérrez-Sacristán, A. et al. (2021) ‘GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets’, Briefings in bioinformatics, 22(1), pp. 55–65.
Lee, IH. et al. (2021). ‘WEScover: selection between clinical whole exome sequencing and gene panel testing.’ BMC Bioinformatics 22, 259. https://doi.org/10.1186/s12859-021-04178-5
Li, Q. et al. (2021) ‘A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings’, PLoS genetics, 17(7), p. E1009639.
Millington, K. et al. (2021). ‘Lipoprotein subtypes after testosterone therapy in transmasculine adolescents’, Journal of Clinical Lipidology, 15(6), pp. 840-844. https://doi.org/10.1016/j.jacl.2021.09.051.
Platt, C.D. et al. (2021) ‘Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency’, The Journal of allergy and clinical immunology, 147(2), pp. 723–726.
Poussaint, T.Y. et al. (2021) ‘Multisystem Inflammatory-like Syndrome in a Child Following COVID-19 mRNA Vaccination’, Vaccines, 10(1). Available at: https://doi.org/10.3390/vaccines10010043.
Santoro, J.D. et al. (2021) ‘Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome’, Neurology(R) neuroimmunology & neuroinflammation, 8(6). Available at: https://doi.org/10.1212/NXI.0000000000001079.
Shubina-Oleinik, O. et al. (2021) ‘Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss’, Science advances, 7(51), p. Eabi7629.
Zhang, Y.J. et al. (2021) ‘Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis’, European journal of human genetics: EJHG, 29(6), pp. 998–1007.

2020

Alterovitz, G. et al. (2020) ‘FHIR Genomics: enabling standardization for precision medicine use cases’, NPJ genomic medicine, 5, p. 13.
Kong, S.W. and Hernandez-Ferrer, C. (2020) ‘Assessment of coverage for endogenous metabolites and exogenous chemical compounds using an untargeted metabolomics platform’, Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 25, pp. 587–598.
Lee, P.Y., Kellner, E.S., et al. (2020) ‘Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)’, The Journal of allergy and clinical immunology, 145(6), pp. 1664–1672.e10.
Lee, P.Y., Platt, C.D., et al. (2020) ‘Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1’, The Journal of allergy and clinical immunology, 146(5), pp. 1194–1200.e1.
Lorenzini, T. et al. (2020) ‘Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations’, The Journal of allergy and clinical immunology, 146(4), pp. 901–911.
Luo, Y. et al. (2020) ‘A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia’, Nature medicine, 26(9), pp. 1375–1379.
Mandl, K.D. et al. (2020) ‘Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system’, Genetics in medicine: official journal of the American College of Medical Genetics, 22(2), p. 449.
Mengel, D. et al. (2020) ‘Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase’, Alzheimer’s research & therapy, 12(1), p. 27.
Miller, T.A., Avillach, P. and Mandl, K.D. (2020) ‘Experiences implementing scalable, containerized, cloud-based NLP for extracting biobank participant phenotypes at scale’, JAMIA open, 3(2), pp. 185–189.
Rockowitz, S. et al. (2020) ‘Children’s rare disease cohorts: an integrative research and clinical genomics initiative’, NPJ genomic medicine, 5, p. 29.
Sayeed, R., Gottlieb, D. and Mandl, K.D. (2020) ‘SMART Markers: collecting patient-generated health data as a standardized property of health information technology’, NPJ digital medicine, 3, p. 9.
Serra, E.G. et al. (2020) ‘Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease’, Nature communications, 11(1), p. 995.
Slyper, M. et al. (2020) ‘A single-cell and single-nucleus RNA-Seq toolbox for fresh and frozen human tumors’, Nature medicine, 26(5), pp. 792–802.

2019

Coravos, A., Khozin, S. and Mandl, K.D. (2019) ‘Developing and adopting safe and effective digital biomarkers to improve patient outcomes’, npj Digital Medicine. doi:10.1038/s41746-019-0090-4.
Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au and Epi25 Collaborative (2019) ‘Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals’, American journal of human genetics, 105(2), pp. 267–282.
Helbig, I. et al. (2019) ‘A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy’, The American Journal of Human Genetics, pp.1060–1072. doi:10.1016/j.ajhg.2019.04.001.
Helbig, K.L. et al. (2019) ‘De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias’, American journal of human genetics, 104(3), p. 562.
Hwang, K.-B. et al. (2019) ‘Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings’, Scientific reports, 9(1), p. 3219.

2018

International League Against Epilepsy Consortium on Complex E.‘Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies’ (2018) Nature communications, 9(1), pp. 1–15.
Helbig, I. et al. (2018) ‘The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria’, Human Mutation, pp. 1476–1484. doi:10.1002/humu.23632.
Keszei, M. et al. (2018) ‘Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive’, The Journal of clinical investigation, 128(9), pp. 4115–4131.
Kong, S.W. et al. (2018) ‘Measuring coverage and accuracy of whole-exome sequencing in clinical context’, Genetics in medicine: official journal of the American College of Medical Genetics, 20(12),pp. 1617–1626.
Zaman, T. et al. (2018) ‘Mutations in SCN3A cause early infantile epileptic encephalopathy’, Annals of Neurology, pp. 703–717. doi:10.1002/ana.25188.

2017

Bourgeois, F. et al. (2017) ‘Development of the Precision Link Biobank at Boston Children’s Hospital:Challenges and Opportunities’, Journal of Personalized Medicine, p. 21. doi:10.3390/jpm7040021.
Helbig, I. and Lindhout, D. (2017) ‘Advancing the phenome alongside the genome in epilepsy studies’, Neurology, 89(1), pp. 14–15.
Mandl, K.D. and Bourgeois, F.T. (2017) ‘The Evolution of Patient Diagnosis: From Art to Digital Data-Driven Science’, JAMA: the journal of the American Medical Association, 318(19), pp. 1859–1860.
Shen, D. et al. (2017) ‘De novo GABRG2mutations associated with epileptic encephalopathies’, Brain, pp.49–67. doi:10.1093/brain/aww272.