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  • 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

  • Lee, I. H., Walker, D. I., Lin, Y., Smith, M. R., Mandl, K. D., Jones, D. P., & Kong, S. W. (2023). Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder. EBioMedicine, 95, 104746. Advance online publication.

  • 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.

  • Wu, A.C., Voorhies, K., McGeachie, M., Mohammed, A., Chinthala, L., Mandl, K.D., Raby, B. Davis, R.L., Lutz, S., 2023. The combined effect of rare and common variants in GSDMB/ORMDL3 is associated with response to inhaled corticosteroids among asthmatic children(2023-A-4169-ASHG). Presented at the Annual Meeting of The American Society of Human Genetics, November 2, 2023 in Washington, DC.




  • 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.

  • 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:

  • 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:

  • 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.

  • Kan, M. et al. (2022) ‘Multiomics analysis identifies BIRC3 as a novel glucocorticoid response-associated gene’, The Journal of allergy and clinical immunology, 149(6), pp. 1981–1991.

  • 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.

  • Perry, J. et al. (2022) ‘Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss’, The Laryngoscope [Preprint]. Available at:

  • 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.

  • 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.



  • 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.

  • 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.

  • 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.

  • 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.

  • 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:

  • 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.


  • 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.




  • Coravos, A., Khozin, S. and Mandl, K.D. (2019) ‘Developing and adopting safe and effective digital biomarkers to improve patient outcomes’, NPJ Digital Medicine. Available at:

  • Epi25 Collaborative. Electronic address: 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. Available at:

  • 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.



  • 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. Available at:

  • 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. Available at:



  • 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. Available at:

  • 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.

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