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Publications

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2026

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  • Del Rosario MC, Walmsley SA, Harrison BW, et al. Designing inclusive newborn sequencing research: insights from parents in underrepresented communities. BMC Med Genomics. Published online January 28, 2026. [DOI | PubMed]

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  • Greco KF, Yang Z, Li M, et al. A weakly supervised transformer for rare disease diagnosis and subphenotyping from EHRs with pulmonary case studies. NPJ Digit Med. Published online February 6, 2026. [DOI]

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2025

 

  • Arnett AB, Koesterer R, Gonzalez Tovar P, et al. Common and Rare Genetic Variants Explain Distinct Diagnostic Variance in Pediatric Attention Deficit Hyperactivity Disorder. Genet Med. 2025;101598. [DOI | PubMed | PMC]

 

  • Du N, Chang D, Wong M, et al. Autoantibody signatures in children with celiac disease, juvenile idiopathic arthritis, and polyautoimmunity. JPGN Rep. 2025;1-9. [DOI]

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  • Gorman MP, Lee IH, Kerr LM, Mandl KD, Kong SW Genetic landscape of opsoclonus-myoclonus-ataxia syndrome in children. Pediatr Neurol. 2025;173:33-40. [DOI | PubMed | PMC]

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  • Keller LS, Fray-Witzer MB, Lokhandwala S, et al. Acceptability, Feasibility, and Day-to-Day Stability of a Portable Sleep Recording Device in Adolescents versus Young Adults. medRxiv (Preprint). 2025. [DOI]

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  • Kennedy JC, Vargas SO, Fishman MP, et al. A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy. Med. 2025;6(6):100607. [DOI | PubMed]

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  • Kong SW, Lee IH, Collen LV, et al. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. NPJ Genom Med. 2025;10(1):17. [DOI | PubMed | PMC]

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  • Kreienkamp RJ, Deutsch AJ, Huerta-Chagoya A, et al. Type 1 diabetes polygenic scores improve diagnostic accuracy in pediatric diabetes care. Horm Res Paediatr. 2025. [DOI | PubMed | PMC]

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  • Lokhandwala S, Hayes R, Sathe S, et al. Using a wearable EEG device to examine age trends in sleep macro- and micro-architecture across adolescence. bioRxiv (Preprint). 2025;10.10.681690. [DOI]

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  • Samad A, Avillach P, Kong SW, et al. The high prevalence of rare pulmonary diseases among patients with severe asthma. ATS Conference Proceedings (Preprint). 2025.

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  • Samad AT, Avillach P, Kong SW, et al. The high prevalence of rare pulmonary diseases among patients with severe asthma. Am J Respir Crit Care Med. 2025;211:A5428. [DOI]

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2024

 

  • Ozdogan E, Fried M, Banerji A, La Cava WG, Mandl KD, Sampson M Empowering study of pediatric nephrotic syndrome via a computable phenotype. PAS Annual Meeting. 2024.

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  • Hofman DA, Ruiz-Orera J, Yannuzzi I, et al. Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma. Mol Cell. 2024;84(2):261-276. [DOI | PubMed | PMC]

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  • Jones JR, Gottlieb D, McMurry AJ, et al. Real world performance of the 21st Century Cures Act population-level application programming interface. J Am Med Inform Assoc. 2024;31(5):1144-1150. [DOI | PubMed | PMC]

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  • Li M, Li X, Pan K, et al. Multisource representation learning for pediatric knowledge extraction from electronic health records. NPJ Digit Med. 2024;7(1):319. [DOI | PubMed | PMC]

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  • Mandl KD, Gottlieb D, Mandel JC Integration of AI in healthcare requires an interoperable digital data ecosystem. Nat Med. 2024;30(3):631-634. [DOI | PubMed]

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  • Mannix R, Borglund E, Monashefsky A, et al. Age-dependent differences in blood levels of glial fibrillary acidic protein but not ubiquitin carboxy-terminal hydrolase L1 in children. Neurology. 2024;103(3). [DOI | PubMed | PMC]

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  • McMurry AJ, Gottlieb DI, Miller TA, et al. Cumulus: a federated electronic health record-based learning system powered by Fast Healthcare Interoperability Resources and artificial intelligence. J Am Med Inform Assoc. 2024;31(8):1638-1647. [DOI | PubMed | PMC]

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  • Phelan D, Gottlieb D, Mandel JC, et al. Beyond compliance with the 21st Century Cures Act Rule: a patient controlled electronic health information export application programming interface. J Am Med Inform Assoc. 2024;31(4):901-909. [DOI | PubMed | PMC]

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  • Voorhies K, Mohammed A, Chinthala L, et al. GSDMB/ORMDL3 Rare/Common Variants Are Associated with Inhaled Corticosteroid Response among Children with Asthma. Genes (Basel). 2024;15(4). [DOI | PubMed | PMC]

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  • Xu R, Bode L, Geva A, Mandl KD, McMurry AJ Accuracy of ICD-10 Codes for Suicidal Ideation and Action in Pediatric Emergency Department Encounters. Pediatr Emerg Care. 2024. [DOI | PubMed | PMC]

 

2023

 

  • Alecu JE, Saffari A, Ziegler M, et al. Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Mov Disord. 2023;38(9):1742-1750. [DOI | PubMed | PMC]

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  • Babcock SJ, Flores-Marin D, Thiagarajah JR The genetics of monogenic intestinal epithelial disorders. Hum Genet. 2023;142(5):613-654. [DOI | PubMed | PMC]

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  • Lee IH, Kong SW ADGR: Admixture-Informed Differential Gene Regulation. Genes (Basel). 2023;14(1). [DOI | PubMed | PMC]

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  • Lee IH, Walker DI, Lin Y, et al. Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder. EBioMedicine. 2023;95:104746. [DOI | PubMed | PMC]

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  • Miller TA, McMurry AJ, Jones J, Gottlieb D, Mandl KD The SMART Text2FHIR Pipeline. AMIA Annu Symp Proc. 2023;514-520. [PubMed | PMC]

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  • Monashefsky A, Alon D, Baranowski T, et al. How much did it cost to develop and implement an eHealth intervention for a minority children population that overlapped with the COVID-19 pandemic?. Contemp Clin Trials. 2023;125:107044. [DOI | PubMed | PMC]

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  • Perry J, Redfield S, Oza A, et al. Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss. Laryngoscope. 2023;133(9):2417-2424. [DOI | PubMed]

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  • Saffari A, Kellner M, Jordan C, et al. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023;146(5):2003-2015. [DOI | PubMed | PMC]

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  • Wang L, Zipursky AR, Geva A, McMurry AJ, Mandl KD, Miller TA A computable case definition for patients with SARS-CoV2 testing that occurred outside the hospital. JAMIA Open. 2023;6(3):ooad047. [DOI | PubMed | PMC]

 

2022

 

  • Abbasi W, French CE, Rockowitz S, Kenna MA, Shearer AE Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings. Hum Genet. 2022;141(3-4):387-400. [DOI | PubMed]

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  • Al-Musa A, LaBere B, Habiballah S, Nguyen AA, Chou J Advances in clinical outcomes: What we have learned during the COVID-19 pandemic. J Allergy Clin Immunol. 2022;149(2):569-578. [DOI | PubMed | PMC]

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  • Alecu JE, Saffari A, Jumo H, et al. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022;9(4):570-576. [DOI | PubMed | PMC]

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  • Berger K, Arafat D, Chandrakasan S, Snapper SB, Gibson G Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation. J Pers Med. 2022;12(6). [DOI | PubMed | PMC]

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  • Bolton C, Smillie CS, Pandey S, et al. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease. Gastroenterology. 2022;162(3):859-876. [DOI | PubMed | PMC]

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  • Brown C, Rooney R, Arnold S, et al. The Biorepository and Integrative Genomics (BIG) Initiative: Addressing genomic health care disparities in underserved communities. Genet Med. 2022;24(3 Suppl):S307. [DOI]

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  • Brownstein C, Douard E, Mollon J, et al. Prevalence of Rate of Deleterious Copy Number Variants Similar in Early Onset Psychosis and Autism Spectrum Disorders: Implications for Clinical Practice. Biological Psychiatry. 2022;91(9):S56-S57. [DOI]

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  • Brownstein CA, Douard E, Mollon J, et al. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. Am J Psychiatry. 2022;179(11):853-861. [DOI | PubMed | PMC]

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  • Chopra M, Gable DL, Love-Nichols J, et al. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022;9(2):193-205. [DOI | PubMed | PMC]

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  • Chou J, Thomas PG, Randolph AG Immunology of SARS-CoV-2 infection in children. Nat Immunol. 2022;23(2):177-185. [DOI | PubMed | PMC]

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  • Collen LV, Kim DY, Field M, et al. Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2022;16(9):1380-1396. [DOI | PubMed | PMC]

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  • Collen LV, Salgado CA, Bao B, et al. Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report. Front Immunol. 2022;13:894648. [DOI | PubMed | PMC]

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  • Dannheim K, Ouahed J, Field M, et al. Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations. Am J Surg Pathol. 2022;46(6):846-853. [DOI | PubMed | PMC]

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  • Dohrn MF, Rebelo AP, Srivastava S, et al. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022;98(11):440-445. [DOI | PubMed | PMC]

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  • Ghalandary M, Li Y, Frohlich T, et al. Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses. Sci Rep. 2022;12(1):3906. [DOI | PubMed | PMC]

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  • Gordon RJ, Pappa HM, Vajapeyam S, et al. Bone marrow adiposity in pediatric Crohn's disease. Bone. 2022;162:116453. [DOI | PubMed]

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  • Gordon RJ, Wells R, Johansen C, et al. Efficacy and Safety of High-dose Cholecalciferol in Patients With Inflammatory Bowel Disease Receiving Infliximab. J Pediatr Gastroenterol Nutr. 2022;74(4):476-483. [DOI | PubMed | PMC]

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  • Gutierrez-Sacristan A, Saez C, De Niz C, et al. Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder. J Am Med Inform Assoc. 2022;29(2):230-238. [DOI | PubMed | PMC]

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  • Kan M, Diwadkar AR, Shuai H, et al. Multiomics analysis identifies BIRC3 as a novel glucocorticoid response-associated gene. J Allergy Clin Immunol. 2022;149(6):1981-1991. [DOI | PubMed | PMC]

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  • Kerur B, Fiedler K, Stahl M, et al. Utilization of Antitumor Necrosis Factor Biologics in Very Early Onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2022;75(1):64-69. [DOI | PubMed | PMC]

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  • Lee IH, Smith MR, Yazdani A, et al. Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort. Hum Genomics. 2022;16(1):67. [DOI | PubMed | PMC]

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  • Ouahed JD, Broggi A, Glick A, et al. Variants in Interferon Lambda are Associated with Very Early Onset Inflammatory Bowel Disease. medRxiv. 2022. [DOI]

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  • Renella R, Gagne K, Beauchamp E, et al. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022;97(1):18-29. [DOI | PubMed | PMC]

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  • Sigal GB, Novak T, Mathew A, et al. Measurement of Severe Acute Respiratory Syndrome Coronavirus 2 Antigens in Plasma of Pediatric Patients. Clin Infect Dis. 2022;75(8):1351-1358. [DOI | PubMed | PMC]

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  • Tang J, Novak T, Hecker J, et al. Cross-reactive immunity against the SARS-CoV-2 Omicron variant is low in pediatric patients with prior COVID-19 or MIS-C. Nat Commun. 2022;13(1):2979. [DOI | PubMed | PMC]

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  • Terek S, Del Rosario MC, Hain HS, et al. Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. J Pers Med. 2022;12(12). [DOI | PubMed | PMC]

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  • Visweswaran S, McLay B, Cappella N, et al. An atomic approach to the design and implementation of a research data warehouse. J Am Med Inform Assoc. 2022;29(4):601-608. [DOI | PubMed | PMC]

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  • Whitney JE, Lee IH, Lee JW, Kong SW Evolution of multiple omics approaches to define pathophysiology of pediatric acute respiratory distress syndrome. Elife. 2022;11:e83444. [DOI | PubMed | PMC]

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  • Wobma H, Perkins R, Bartnikas L, et al. Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach. Pediatr Pulmonol. 2022;57(7):1577-1587. [DOI | PubMed | PMC]

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  • Yao Y, Kim G, Shafer S, et al. Loss of function mutations in LRBA leads to Interferon (IFN)- and Tumor Necrosis Factor (TNF)-dominant Immune Dysregulation Syndrome. J Allergy Clin Immunol. 2022;149(2):582-595. [DOI]

 

2021

 

  • Brownstein CA, Smith RS, Rodan LH, et al. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021;26(5):1706-1718. [DOI | PubMed]

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  • Chou J, Platt CD, Habiballah S, et al. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). J Allergy Clin Immunol. 2021;148(3):732-738. [DOI | PubMed]

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  • Chung MK, Smith MR, Lin Y, et al. Plasma metabolomics of autism spectrum disorder and influence of shared components in proband families. Exposome. 2021;1(1):osab004. [DOI | PubMed]

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  • Geva A, Liu M, Panickan VA, et al. A high-throughput phenotyping algorithm is portable from adult to pediatric populations. J Am Med Inform Assoc. 2021;28(6):1265-1269. [DOI | PubMed | PMC]

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  • Gutierrez-Sacristan A, De Niz C, Kothari C, et al. GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets. Brief Bioinform. 2021;22(1):55-65. [DOI | PubMed | PMC]

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  • Johnson CL, Jazan E, Kong SW, Pennell KD A two-step gas chromatography-tandem mass spectrometry method for measurement of multiple environmental pollutants in human plasma. Environ Sci Pollut Res Int. 2021;28(3):3266-3279. [DOI | PubMed | PMC]

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  • Klann JG, Estiri H, Weber GM, et al. Validation of an internationally derived patient severity phenotype to support COVID-19 analytics from electronic health record data. J Am Med Inform Assoc. 2021;28(7):1411-1420. [DOI | PubMed | PMC]

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  • Lee IH, Lin Y, Alvarez WJ, et al. WEScover: selection between clinical whole exome sequencing and gene panel testing. BMC Bioinformatics. 2021;22(1):259. [DOI | PubMed | PMC]

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  • Lee JW, Lee IH, Iimura T, Kong SW Two macrophages, osteoclasts and microglia: from development to pleiotropy. Bone Res. 2021;9(1):11. [DOI | PubMed | PMC]

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  • Lee JW, Lee IH, Sato T, Kong SW, Iimura T Genetic variation analyses indicate conserved SARS-CoV-2-host interaction and varied genetic adaptation in immune response factors in modern human evolution. Dev Growth Differ. 2021;63(3):219-227. [DOI | PubMed | PMC]

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  • Li Q, Dibus M, Casey A, et al. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021;17(7):e1009639. [DOI | PubMed | PMC]

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  • Liu D, Olson KL, Manzi SF, Mandl KD Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics. Genet Med. 2021;23(4):782-786. [DOI | PubMed | PMC]

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  • McGraw D, Mandl KD Privacy protections to encourage use of health-relevant digital data in a learning health system. NPJ Digit Med. 2021;4(1):2. [DOI | PubMed | PMC]

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  • Millington K, Chan YM Lipoprotein subtypes after testosterone therapy in transmasculine adolescents. J Clin Lipidol. 2021;15(6):840-844. [DOI | PubMed | PMC]

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  • Motelow JE, Povysil G, Dhindsa RS, et al. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet. 2021;108(6):965-982. [DOI | PubMed | PMC]

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  • Platt CD, Zaman F, Bainter W, et al. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency. J Allergy Clin Immunol. 2021;147(2):723-726. [DOI | PubMed | PMC]

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  • Poussaint TY, LaRovere KL, Newburger JW, et al. Multisystem Inflammatory-like Syndrome in a Child Following COVID-19 mRNA Vaccination. Vaccines (Basel). 2021;10(1):41. [DOI | PubMed | PMC]

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  • Santoro JD, Kerr LM, Codden R, et al. Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome. Neurol Neuroimmunol Neuroinflamm. 2021;8(6):e1119. [DOI | PubMed | PMC]

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  • Shubina-Oleinik O, Nist-Lund C, French C, et al. Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Sci Adv. 2021;7(51):eabi7629. [DOI | PubMed | PMC]

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  • Zhang YJ, Jimenez L, Azova S, et al. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021;29(6):998-1007. [DOI | PubMed | PMC]

 

2020

 

  • Alterovitz G, Heale B, Jones J, et al. FHIR Genomics: enabling standardization for precision medicine use cases. NPJ Genom Med. 2020;5:13. [DOI | PubMed | PMC]

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  • Geva A, Abman SH, Manzi SF, et al. Adverse drug event rates in pediatric pulmonary hypertension: a comparison of real-world data sources. J Am Med Inform Assoc. 2020;27(2):294-300. [DOI | PubMed | PMC]

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  • Geva A, Stedman JP, Manzi SF, et al. Adverse drug event presentation and tracking (ADEPT): semiautomated, high throughput pharmacovigilance using real-world data. JAMIA Open. 2020;3(3):413-421. [DOI | PubMed | PMC]

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  • Kong SW, Hernandez-Ferrer C Assessment of coverage for endogenous metabolites and exogenous chemical compounds using an untargeted metabolomics platform. Pac Symp Biocomput. 2020;25:587-598. [PubMed]

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  • Lee IH, Lee JW, Kong SW A survey of genetic variants in SARS-CoV-2 interacting domains of ACE2, TMPRSS2 and TLR3/7/8 across populations. Infect Genet Evol. 2020;85:104507. [DOI | PubMed | PMC]

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  • Lee IH, Negron JA, Hernandez-Ferrer C, et al. The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. Hum Mutat. 2020;41(2):387-396. [DOI | PubMed | PMC]

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  • Lee PY, Kellner ES, Huang Y, et al. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020;145(6):1664-1672. [DOI | PubMed | PMC]

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  • Lee PY, Platt CD, Weeks S, et al. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020;146(5):1194-1200. [DOI | PubMed | PMC]

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  • Lin KJ, Rosenthal GE, Murphy SN, et al. External Validation of an Algorithm to Identify Patients with High Data-Completeness in Electronic Health Records for Comparative Effectiveness Research. Clin Epidemiol. 2020;12:133-141. [DOI | PubMed | PMC]

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  • Lorenzini T, Fliegauf M, Klammer N, et al. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol. 2020;146(4):901-911. [DOI | PubMed | PMC]

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  • Luo Y, Eran A, Palmer N, et al. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia. Nat Med. 2020;26(9):1375-1379. [DOI | PubMed]

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  • Mandl KD, Glauser T, Krantz ID, et al. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020;22(2):371-380. [DOI | PubMed | PMC]

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  • Mengel D, Liu W, Glynn RJ, et al. Dynamics of plasma biomarkers in Down syndrome: the relative levels of Abeta42 decrease with age, whereas NT1 tau and NfL increase. Alzheimers Res Ther. 2020;12(1):27. [DOI | PubMed | PMC]

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  • Miller TA, Avillach P, Mandl KD Experiences implementing scalable, containerized, cloud-based NLP for extracting biobank participant phenotypes at scale. JAMIA Open. 2020;3(2):185-189. [DOI | PubMed | PMC]

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  • Rockowitz S, LeCompte N, Carmack M, et al. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020;5:29. [DOI | PubMed | PMC]

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  • Sayeed R, Gottlieb D, Mandl KD SMART Markers: collecting patient-generated health data as a standardized property of health information technology. NPJ Digit Med. 2020;3:9. [DOI | PubMed | PMC]

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  • Serra EG, Schwerd T, Moutsianas L, et al. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nat Commun. 2020;11(1):995. [DOI | PubMed | PMC]

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  • Slyper M, Porter CBM, Ashenberg O, et al. A single-cell and single-nucleus RNA-Seq toolbox for fresh and frozen human tumors. Nat Med. 2020;26(5):792-802. [DOI | PubMed | PMC]

 

2019

 

  • Coravos A, Khozin S, Mandl KD Developing and adopting safe and effective digital biomarkers to improve patient outcomes. NPJ Digit Med. 2019;2(1):14. [DOI | PubMed | PMC]

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  • Epi25 Collaborative Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. Am J Hum Genet. 2019;105(2):267-282. [DOI | PubMed | PMC]

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  • Helbig I, Lopez-Hernandez T, Shor O, et al. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019;104(6):1060-1072. [DOI | PubMed | PMC]

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  • Hwang KB, Lee IH, Li H, et al. Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. Sci Rep. 2019;9(1):3219. [DOI | PubMed | PMC]

 

2018

 

  • Helbig I, Riggs ER, Barry CA, et al. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018;39(11):1476-1484. [DOI | PubMed | PMC]

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  • Helbig KL, Lauerer RJ, Bahr JC, et al. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018;103(5):666-678. [DOI | PubMed | PMC]

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  • International League Against Epilepsy Consortium on Complex Epilepsies Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat Commun. 2018;9(1):5269. [DOI | PubMed | PMC]

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  • Keszei M, Record J, Kritikou JS, et al. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018;128(9):4115-4131. [DOI | PubMed | PMC]

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  • Kong SW, Lee IH, Liu X, Hirschhorn JN, Mandl KD Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. 2018;20(12):1617-1626. [DOI | PubMed | PMC]

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  • Zaman T, Helbig I, Božović IB, et al. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018;83(4):703-717. [DOI | PubMed | PMC]

 

2017

 

  • Bourgeois FT, Avillach P, Kong SW, et al. Development of the Precision Link Biobank at Boston Children's Hospital: Challenges and Opportunities. J Pers Med. 2017;7(4). [DOI | PubMed | PMC]

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  • Helbig I, Lindhout D Advancing the phenome alongside the genome in epilepsy studies. Neurology. 2017;89(1):14-15. [DOI | PubMed]

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  • Mandl KD, Bourgeois FT The Evolution of Patient Diagnosis: From Art to Digital Data-Driven Science. JAMA. 2017;318(19):1859-1860. [DOI | PubMed]

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  • Shen D, Hernandez CC, Shen W, et al. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017;140(1):49-67. [DOI | PubMed | PMC]

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