Below are publications by the CRDC. For study - or investigator - specific publications, please visit the individual study pages under the Rare Diseases menu, Complex Cases page, and the Undiagnosed Diseases page.

  1. Rockowitz, Shira; LeCompte, Nicholas; Carmack, Mary; Quitadamo, Andrew; Wang, Lily et al., Children’s rare disease cohorts: an integrative research and clinical genomics initiative.npj. Genomic Medicine
  2. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
  3. Agianda, HAP, Tam A, Kunta A, Saffari A, Rong J, Crough M, Srouhi R, Quiroz V, Yang K, Schierbaum L, Ebrahimi-Fakhari D. STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting With Gordon-Holmes Syndrome Caused By UPiD(16)mat; Movement Disorders Clinical Practice
  4. Nguyen AA, Habiballah SB, LaBere B, Day-Lewis M, Elkins M, Al-Musa A, Chu A, Jones J, Fried AJ, McDonald D, van Konijnenburg DPH, Rockowitz S, Sliz P, Oettgen HC, Schneider LC, MacGinnitie A, Bartnikas LM, Platt CD, Ohsumi TK, Chou J. Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies. J Allergy Clin Immuno Pract, in press.
  5. LaBere B, Nguyen AA, Habiballah SB, Elkins M, Imperial J, Li B, Devana S, Timilsina S, Stubbs SB, Joerger J, Chou J, Platt CD. Clinical utility of measuring CD4 + T follicular cells in patients with immune dysregulation. Journal of Autoimmunity, in press.
  6. LaCoursiere CM, Ullmann JFP, Koh HY, Turner L, Baker CM, Robens B, Shao W, Rotenberg A, McGraw CM, Poduri AH. Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 2024 Jun 5;27(7):110172. doi: 10.1016/j.isci.2024.110172. PMID: 39021799; PMCID: PMC11253282.
  7. Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Hum Genet. 2024 Mar;143(3):311-329. doi: 10.1007/s00439-024-02649-2. Epub 2024 Mar 9. PMID: 38459354; PMCID: PMC11043200.
  8. O'Connell, Mia, Elizabeth Harstad, Jennifer Aites, Katheryn Hayes, Anne B. Arnett, Julia Scotellaro, Soleha Patel, Stephanie J. Brewster, William Barbaresi, and Ryan N. Doan. "Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention‐deficit/hyperactivity disorder." American Journal of Medical Genetics Part A: e63851.
  9. Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S. Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet A. 2024 Sep 26:e63890. doi: 10.1002/ajmg.a.63890. Epub ahead of print. PMID: 39324476.
  10. Perrin A, Métay C, Savarese M, et al. Titin copy number variations associated with dominant inherited phenotypes. J Med Genet. 2024;61(4):369-377. Published 2024 Mar 21. doi:10.1136/jmg-2023-109473
  11. Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, et al. Case Report of Friedreich’s Ataxia and ALG1 ‐Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. American Journal of Medical Genetics Part A. 2024; e63890. https://doi.org/10.1002/ajmg.a.63890.
  12. Rowan CM, LaBere B, Young CC, Zambrano LD, Newhams MM, Kucukak S, McNamara ER, Mack EH, Fitzgerald JC, Irby K, Maddux AB, Schuster JE, Kong M, Dapul H, Schwartz SP, Bembea MM, Loftis LL, Kolmar AR, Babbitt CJ, Nofziger RA, Hall MW, Gertz SJ, Cvijanovich NZ, Zinter MS, Halasa NB, Bradford TT, McLaughlin GE, Singh AR, Hobbs CV, Wellnitz K, Staat MA, Coates BM, Crandall HR, Maamari M, Havlin KM, Schwarz AJ, Carroll CL, Levy ER, Moffitt KL, Campbell AP, Randolph AG, Chou J; Overcoming COVID-19 Investigators. Pre-existing Immunocompromising Conditions and Outcomes of Acute COVID-19 Patients Admitted for Pediatric Intensive Care. Clin Infect Dis. 2024 Aug 16;79(2):395-404. doi: 10.1093/cid/ciae133. PMID: 38465976; PMCID: PMC11327788.
  13. Akula SK, Quiroz V, D'Gama AM, Chiu MY, Koh HY, Saffari A, Zaman Z, Tam A, Srouji R, Valentine R, Wiltrout K, Pinto A, Harini C, Pearl PL, Poduri A, Ebrahimi-Fakhari D. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 Jun;11(6):1643-1647. doi: 10.1002/acn3.52055. Epub 2024 May 6. PMID: 38711225; PMCID: PMC11187834.
  14. Slingerland AL, Keusch DS, Lehman L, Smith ER, Srivastava S, See AP. Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2024 Mar 1; 40(3): 801-808. doi: 10.1007/s00381-023-06167-w. PMID: 37778001.
  15. Srivastava S, Koh HY, Smith L, Poduri A, Boston Children's Hospital Neurology Phenotyping and Referral Group. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatric neurology. 2024 May 31; 157: 79-86. doi: 10.1016/j.pediatrneurol.2024.05.016. PMID: 38901369
  16. Santana Almansa A, Gable DL, Frazier Z, Sveden A, Quinlan A, Chopra M, Lewis SA, Kruer M, Poduri A, Srivastava S. Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Annals of clinical and translational neurology. 2024 Feb 1; 11(2): 251-262. doi: 10.1002/acn3.51942. PMID: 38168508; PMCID: PMC10863912
  17. Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatric neurology. 2024 Nov 1; 160: 45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. PMID: 39181022.
  18. Srivastava S, Koh HY, Smith L, Poduri A; Boston Children's Hospital Neurology Phenotyping and Referral Group. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatr Neurol. 2024 Aug;157:79-86. doi: 10.1016/j.pediatrneurol.2024.05.016. Epub 2024 May 31. PMID: 38901369; PMCID: PMC11418751.
  19. O'Connell AE, Raveenthiraraj S, Oliveira LFS, Adegboye C, Dasuri VS, Qi W, Khetani RS, Singh A, Sundaram N, Lin J, Nandivada P, Rincón-Cruz L, Goldsmith JD, Thiagarajah JR, Carlone DL, Turner JR, Agrawal PB, Helmrath M, Breault DT. WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production. Cell Mol Gastroenterol Hepatol. 2024;18(2):101349. doi: 10.1016/j.jcmgh.2024.04.006. Epub 2024 Apr 30. PMID: 38697357
  20. Yeh PJ, Nash K, Charlesworth JEG, Collen LV, Snapper S, Uhlig HH. Catalyzing change: Implementing standardised reporting in monogenic inflammatory bowel disease research. J Pediatr Gastroenterol Nutr. 2024 Apr;78(4):759-762. doi: 10.1002/jpn3.12147. Epub 2024 Feb 14. PMID: 38356297
  21. Yang K, Quiroz V, Tam A, Srouji R, Villanueva X, Amarales C, et al. Juvenile‐onset Huntington’s disease – Spectrum and evolution of presenting movement disorders. Annals of Clinical and Translational Neurology. 2024; acn3.52193. https://doi.org/10.1002/acn3.52193.
  22. Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, et al. The GENESIS database and tools: A decade of discovery in Mendelian genomics. Experimental Neurology. 2024; 114978. https://doi.org/10.1016/j.expneurol.2024.114978.
  23. Schierbaum L, Quiroz V, Tam A, Zubair U, Tochen L, Srouji R, Yang K, Ebrahimi-fakhari D. Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. Movement Disorders Clinical Practice. 2024; Article DOI: 10.1002/mdc3.14226
  24. Martin, B. E., Vargas, S. O., Hindman, H. B., Rothstein, A., Folberg, R., & Goldstein, R.
    D. (2024). Sudden Death in a Child With Ocular Lesions. JAMA ophthalmology, 142(4),
    388–389. https://doi.org/10.1001/jamaophthalmol.2024.0089
  25. Arnett AB, Harstad E, O'Connell M, Hayes K, Brewster S, Barbaresi W, Doan RN. Rare De Novo and Inherited Genes in Familial and Nonfamilial Pediatric Attention-Deficit/Hyperactivity Disorder. JAMA Pediatr. 2024 Jan 1;178(1):81-84. doi: 10.1001/jamapediatrics.2023.4952. PMID: 37983059; PMCID: PMC10660237.
  26. Bodansky A, Mettelman RC, Sabatino JJ Jr, Vazquez SE, Chou J, Novak T, Moffitt KL, Miller HS, Kung AF, Rackaityte E, Zamecnik CR, Rajan JV, Kortbawi H, Mandel-Brehm C, Mitchell A, Wang CY, Saxena A, Zorn K, Yu DJL, Pogorelyy MV, Awad W, Kirk AM, Asaki J, Pluvinage JV, Wilson MR, Zambrano LD, Campbell AP; Overcoming COVID-19 Network Investigators; Thomas PG, Randolph AG, Anderson MS, DeRisi JL. Molecular mimicry in multisystem inflammatory syndrome in children. Nature. 2024 Aug;632(8025):622-629. doi: 10.1038/s41586-024-07722-4. Epub 2024 Aug 7. PMID: 39112696; PMCID: PMC11324515.
  27. Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, et al. Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. The Journal of Clinical Investigation. 2024;134(17): e178919. https://doi.org/10.1172/JCI178919.
  28. Kennedy JC, Vargas SO, Fishman MP, et al. A Granulin Variant Causing Childhood Interstitial Lung Disease Responsive to anti-TNF-α Biologic Therapy. Med. 2024 (in press)
  29. Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A,Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Germline mutations in a G protein identify signaling cross-talk in T cells. Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947. Epub 2024 Sep 20. PMID:
    39298586.
  30. Töpf A, Cox D, Zaharieva IT, et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024;56(3):395-407. doi:10.1038/s41588-023-01651-0
  31. Birk Möller, Lena-Luise Becker, Afshin Saffari, Alexandra Afenjar, Emanuele G Coci, Rachel Williamson, Catherine Ward-Melver, Marc Gibaud, Lucie Sedláčková, Petra Laššuthová, Zuzana Libá, Markéta Vlčková, Nancy William, Eric W Klee, Ralitza H Gavrilova, Jonathan Lévy, Yline Capri, Mena Scavina, Robert Walter Körner, Zaheer Valuvullah, Claudia Weiß, Greta Marit Möller, Moritz Thiel, Margje Sinnema, Erik-Jan Kamsteeg, Sandra Donkervoort, Veronique Duboc, Khaoula Zaafrane-Khachnaoui, Nour Elkhateeb, Laila Selim, Henri Margot, Victor Marin, Claire Beneteau, Bertrand Isidor, Benjamin Cogne, Boris Keren, Benno Küsters, Alan H Beggs, Casie A Genetti, Joost Nicolai, Jörg Dötsch, Anne Koy, Carsten G Bönnemann, Maja von der Hagen, Jürgen-Christoph von Kleist-Retzow, Nicol Voermans, Heinz Jungbluth, Hormos Salimi Dafsari, The expanding clinical and genetic spectrum of DYNC1H1-related disorders, Brain, 2024;, awae183, https://doi.org/10.1093/brain/awae183
  32. Harris EM, Chamseddine S, Chu A, Senkpeil L, Nikiciuk M, Al-Musa A, Woods B, Ozdogan E, Saker S, van Konijnenburg DPH, Yee CSK, Nelson R, Lee P, Halyabar O, Hale RC, Day-Lewis M, Henderson LA, Nguyen AA, Elkins M, Ohsumi TK, Gutierrez-Arcelus M, Peyper JM, Platt CD, Grace RF, LaBere B, Chou J. Integrating circulating T follicular memory cells and autoantibody repertoires for characterization of autoimmune disorders. medRxiv [Preprint]. 2024 Mar 7:2024.02.25.24303331. doi: 10.1101/2024.02.25.24303331. PMID: 38464255; PMCID: PMC10925364.
  33. Kong SW, Lee IH, Collen LV, Manrai AK, Snapper SB, Mandl KD. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. medRxiv. 2024 May 23:2024.05.22.24307756. doi: 10.1101/2024.05.22.24307756. PMID: 38826236.
  34. Wojcik MH, Del Rosario MC, Feldman HA, Smith HS, Holm IA. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. medRxiv [Preprint]. 2024 Jul 1:2024.06.29.24309646. doi: 10.1101/2024.06.29.24309646. PMID: 39006444; PMCID: PMC11245053.
  35. Maddux AB, Young CC, Kucukak S, Zambrano LD, Newhams MM, Rollins CK, Halasa NB, Gertz SJ, Mack EH, Schwartz S, Kong M, Loftis LL, Irby K, Rowan CM, Tarquinio KM, Zinter MS, Crandall H, Cvijanovich NZ, Schuster JE, Fitzgerald JC, Staat MA, Hobbs CV, Nofziger RA, Shein S, Flori H, Cullimore ML, Chatani BM, Levy ER, Typpo KV, Hume JR, Campbell AP, Randolph AG; Overcoming COVID-19 Investigators. Risk factors for health impairments in children after
    hospitalization for acute COVID-19 or MIS-C. Front Pediatr. 2023 Oct 18;11:1260372. doi: 10.3389/fped.2023.1260372. PMID: 37920792; PMCID: PMC10619659.
  36. Babcock SJ, Flores-Marin D, Thiagarajah JR, The genetics of monogenic intestinal epithelial disorders. Human Genetics.
  37. Hojilo M, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Dsaso E, Beggs AH, Agrawal PA, Glahn DC, Gonzalez-Heydrich JM, Brownstein CA, Children with early onset psychosis have an increased burden of rare GRIN2A variants. Genes. Genes
  38. Redfield SE, De-la-Torre P, Zamani M, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss (preprint). Genetic and Genomic Medicine.
  39. Flanagan FO, Holtz AM, Vargas SO, Genetti CA, Schmitz-Abe K, Casey A, Kennedy JC, Raby BA, Mullen MP, Fishman MP, Agrawal PB. An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genom Med. 2023 Mar 6;8(1):7. doi: 10.1038/s41525-023-00350-3. PMID: 36878902; PMCID: PMC9988848.
  40. Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, et al. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in Medicine. 2023;25(7): 100839. https://doi.org/10.1016/j.gim.2023.100839.
  41. D'Gama AM, Agrawal PB. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet. 2023 Dec;31(12):1357-1363. doi: 10.1038/s41431-023-01464-z. Epub 2023 Oct 4. PMID: 37789085; PMCID: PMC10689757.
  42. Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11. PMID: 37057675.
  43. Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Hum Mol Genet. 2023 Jan 1;32(1):93-103. doi: 10.1093/hmg/ddac182. PMID: 35925862; PMCID: PMC9838092.
  44. Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, Chorfi S, Lakhani S, Ji W, Steiner L, Marcadier J, Jansen P, van der Pol L, van Hagen J, Russi A, Le Guyader , Nordenskjöld M, Nordgren A, Anderlid B, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan F, Lefebvre M, Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont M, Grotto S, Alcantud A, Coret A, Avargues R, Srivastava S, Delorme C, Romoser S, Safina N, Saade D, Lupski J, Calame D, Geneviève D, Chatron N, Bolard C, Myers K, Dobyns W, Calvas P, DDD Stud, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin D, Tremblay A, Michaud J. Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta. Genetics in medicine. 2023 Apr 20;100856. PubMed PMID 37092537.
  45. Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA.Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants Genes (Basel). 2023 Mar 23;14(4):779. doi: 10.3390/genes14040779.PMID: 37107537
  46. Flanagan FO, Holtz AM, Vargas SO, Genetti CA, Schmitz-Abe K, Casey A, Kennedy JC, Raby BA, Mullen MP, Fishman MP, Agrawal PB. An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genom Med. 2023; 8:7. PMID: 36878902
  47. Zambrano LD, Wu MJ, Martin L, Malloch L, Chen S, Newhams MM, Kucukak S, Son MB, Sanders C, Patterson K, Halasa N, Fitzgerald JC, Leroue MK, Hall M, Irby K, Rowan CM, Wellnitz K, Sahni LC, Loftis L, Bradford TT, Staat M, Babbitt C, Carroll CL, Pannaraj PS, Kong M, Schuster JE, Chou J, Patel MM, Randolph AG, Campbell AP, Hobbs CV; for the Overcoming COVID-19 investigators. Risk Factors for Multisystem Inflammatory Syndrome in Children: A Case-control Investigation. Pediatr Infect Dis J. 2023 Jun 1;42(6):e190-e196. doi: 10.1097/INF.0000000000003900. Epub 2023 Mar 16. PMID: 37000922; PMCID: PMC10265536.
  48. Du Y, Brodeur KE, Hsu E, Chen L, Chen Q, Liu M, Cheng Q, Rosen S, Michniacki TF, Chou J, Lo MS, Platt CD, Lee PY. In cis "benign" SOCS1 variants linked to enhanced interferon signaling and autoimmunity. J Autoimmun. 2023 Nov;140:103119. doi: 10.1016/j.jaut.2023.103119. Epub 2023 Oct 4. PMID: 37797401; PMCID: PMC10987394.
  49. LaBere B, Nguyen AA, Habiballah SB, Elkins M, Imperial J, Li B, Devana S, Timilsina S, Stubbs SB, Joerger J, Chou J, Platt CD. Clinical utility of measuring CD4+ T follicular cells in patients with immune dysregulation. J Autoimmun. 2023 Nov;140:103088. doi: 10.1016/j.jaut.2023.103088. Epub 2023 Aug 5. PMID: 37549449; PMCID: PMC10839119.
  50. Irwin M, Tanawattanacharoen VK, Turner A, Son MBF, Hale RC, Platt CD, Putra J, Schmidt BAR, Wasserman MG. A case of neonatal sweet syndrome associated with mevalonate kinase deficiency. Pediatr Rheumatol Online J. 2023 Sep 12;21(1):101. doi: 10.1186/s12969-023-00887-8. PMID: 37700301; PMCID: PMC10496215.
  51. Nguyen AA, Habiballah SB, LaBere B, Day-Lewis M, Elkins M, Al-Musa A, Chu A, Jones J, Fried AJ, McDonald D, Hoytema van Konijnenburg DP, Rockowitz S, Sliz P, Oettgen HC, Schneider LC, MacGinnitie A, Bartnikas LM, Platt CD, Ohsumi TK, Chou J. Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS- Cov-2 Infections in Individuals With Congenital Immunodeficiencies. J Allergy Clin Immunol Pract. 2023 Nov;11(11):3391-3399.e3. doi: 10.1016/j.jaip.2023.07.042. Epub 2023 Aug 5. PMID: 37544429; PMCID: PMC10839118.
  52. Collen LV, Mitsialis V, Kim DY, Bresnahan M, Yang J, Tuthill M, Combs A, Barends J, Field M, Liu E, Bearup R, Okoroafor I, Klein C, Muise AM, Bousvaros A, Ouahed J, Snapper SB. Efficacy and Safety of Anti-Tumor Necrosis Factor Alpha in Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2023 Oct 17:izad196. doi: 10.1093/ibd/izad196. Epub ahead of print. PMID: 37847820
  53. Hsieh EW, Snapper SB, de Zoeten EF. Inborn errors of immunity and mucosal immunity. Front Immunol. 2023 May 9;14:1208798. doi: 10.3389/fimmu.2023.1208798. eCollection 2023. PMID: 37228613.
  54. Saffari A, Ebrahimi-Fakhari D. Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2023 May;38(5):911-913. doi: 10.1002/mds.29384. PMID: 37303094.
  55. Magnotto JC, Mancini A, Bird K, Montenegro L, Tütüncüler F, Pereira SA, Simas V, Garcia L, Roberts SA, Macedo D, Magnuson M, Gagliardi P, Mauras N, Witchel SF, Carroll RS, Latronico AC, Kaiser UB, Abreu AP. Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1646-1656. doi: 10.1210/clinem/dgad151. PMID: 36916482; PMCID: PMC10653150.
  56. Collen LV, Snapper SB, Gordon RJ. Vertebral Compression Fractures in Very Early Onset Inflammatory Bowel Disease. JPGN Rep. 2023 Jan 19;4(1):e283. doi: 10.1097/PG9.0000000000000283. eCollection 2023 Feb. PMID: 36915866.
  57. Patik I, Redhu NS, Eran A, Bao B, Nandy A, Tang Y, El Sayed S, Shen Z, Glickman J, Fox JG, Snapper SB, Horwitz BH. The IL-10 receptor inhibits cell extrinsic signals necessary for STAT1-dependent macrophage accumulation during colitis. Mucosal Immunol. 2023 Jun;16(3):233-249. doi: 10.1016/j.mucimm.2023.02.006. Epub 2023 Mar 2.PMID: 36868479.
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