Since the establishment of the CRDC, two key papers have been published highlighting the major accomplishments and impactful outcomes of this collaborative. These papers are co-authored by CRDC investigators.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. npj Genomic Medicine.(Dec 2024)
The below articles are published by individual CRDC investigators and are primarily focused on specific rare diseases or genes.
O'Connell, M., Harstad, E., Aites, J., Hayes, K., Arnett, A.B., Scotellaro, J., Patel, S., Brewster, S.J., Barbaresi, W., Doan, R.N. Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention‐deficit/hyperactivity disorder. American Journal of Medical Genetics Part A. (2024)
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. (Apr 2023)
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. Pediatric Infectious Disease Journal. (Jun 2023)
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D’Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH, BCH Neurology Referral and Phenotyping Group. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Network Open. (2023)
Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez MY, Oktelik FB, Cetin EA, Zhong Y, Taylor ML, Irby K, Halasa NB, Mack EH; Overcoming COVID-19 Investigators; Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger J, Agrawal PB, Volpi S, Palma P, Kiykim A, Randolph AG, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children. Journal of Clinical Investigation. (Jan 2023)
Huang Z, Brodeur KE, Chen L, Du Y, Wobma H, Hsu EE, Liu M, Chang JC, Chang MH, Chou J, Day-Lewis M, Dedeoglu F, Halyabar O, Lederer JA, Li T, Lo MS, Lu M, Meidan E, Newburger JW, Randolph AG, Son MB, Sundel RP, Taylor ML, Wu H, Zhou Q, Canna SW, Wei K, Henderson LA, Nigrovic PA, Lee PY. Type I interferon signature and cycling lymphocytes in macrophage activation syndrome. Journal of Clinical Investigation. November 2023.
Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al-Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A, COVID Human Genetic Effort, Gothe F, Houhou-Fidouh N, Hackett SJ, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, Béziat V, Zhang Q, Duncan CJ, Hambleton S, Casanova JL, Meyts I. Human inherited complete STAT2 deficiency underlies inflammatory viral diseases. Journal of Clinical Investigation. June 2023.
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Network Open. May 2023.
Wu Y, Gettler K, Kars ME, Giri M, Li D, Bayrak CS, Zhang P, Jain A, Maffucci P, Sabic K, Van Vleck T, Nadkarni G, Denson LA, Ostrer H, Levine AP, Schiff ER, Segal AW, Kugathasan S, Stenson PD, Cooper DN, Schumm LP, Snapper S, Daly MJ, Haritunians T, Duerr RH, Silverberg MS, Rioux JD, Brant SR, McGovern DPB, Cho JH, Itan Y. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications. April 2023.
Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockowitz S, Lee P, Fion TM, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez MY, Oktelik FB, Cetin EA, Zhong Y, Taylor ML, Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger J, Agrawal P, Volpi S, Palma P, Kiykim A, Randolph AG, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children. Journal of Clinical Investigation. [Online ahead of print].
Bodansky A, Vazquez SE, Chou J, Novak T, Al-Musa A, Young C, Newhams M, Kucukak S, Zambrano LD, Mitchell A, Wang CY, Moffitt K, Halasa NB, Loftis LL, Schwartz SP, Walker TC, Mack EH, Fitzgerald JC, Gertz SJ, Rowan CM, Irby K, Sanders RC Jr, Kong M, Schuster JE, Staat MA, Zinter MS, Cvijanovich NZ, Tarquinio KM, Coates BM, Flori HR, Dahmer MK, Crandall H, Cullimore ML, Levy ER, Chatani B, Nofziger R, Overcoming COVID-19 Network Study Group Investigators, Geha RS, DeRisi J, Campbell AP, Anderson M, Randolph AG. NFKB2 haploinsufficiency identified via screening for IFN-α2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications. Journal of Allergy and Clinical Immunology. April 2023.
Zilbauer M, James KR, Kaur M, Pott S, Li Z, Burger A, Thiagarajah JR, Burclaff J, Jahnsen FL, Perrone F, Ross AD, Matteoli G, Stakenborg N, Sujino T, Moor A, Bartolome-Casado R, Bækkevold ES, Zhou R, Xie B, Lau KS, Din S, Magness ST, Yao Q, Beyaz S, Arends M, Denadai-Souza A, Coburn LA, Gaublomme JT, Baldock R, Papatheodorou I, Ordovas-Montanes J, Boeckxstaens G, Hupalowska A, Teichmann SA, Regev A, Xavier RJ, Simmons A, Snyder MP, Wilson KT, Gut Cell Atlas Consortium, Human Cell Atlas Gut Biological Network Consortium. A Roadmap for the Human Gut Cell Atlas. Nature Reviews Gastroenterology & Hepatology. May 2023.
Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, Kanegane H, Koletzko S, Kotlarz D, Klein C, Lenardo MJ, Lo B, McGovern DPB, Özen A, de Ridder L, Ruemmele F, Shouval DS, Snapper SB, Travis SP, Turner D, Wilson DC, Muise AM. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nature Reviews Gastroenterology & Hepatology. December 2023.
Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, Savostyanov K, Pushkov A, Zhanin I, Raykina E, Kurnikova M, Mersiyanova I, Platt CD, Jee H, Brodeur K, Du Y, Liu M, Weiss A, Schulert GS, Rodriguez-Smith J, Hershfield MS, Aksentijevich I, Zhou Q, Nigrovic PA, Shcherbina A, Alexeeva E, Lee PY. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2. Journal of Allergy and Clinical Immunology. May 2023.
Bodansky A, 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, Asaki J, Pluvinage JV, Wilson MR, Loftis LL, Hobbs CV, Tarquinio KM, Kong M, Fitzgerald JC, Espinal PS, Walker TC, Schwartz SP, Crandall H, Irby K, Staat MA, Rowan CM, Schuster JE, Halasa NB, Gertz SJ, Mack EH, Maddux AB, Cvijanovich NZ, Zinter MS, Zambrano LD, Campbell AP, Randolph AG, Anderson M, D...
Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, Deaso E, Agrawal PB, Beggs AH, D'Angelo E, Almasy L, Alexander-Bloch A, Saci Z, Moreau CA, Huguet G, Deo AJ, Jacquemont S, Glahn DC, Gonzalez-Heydrich J. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. American Journal of Psychiatr...