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May 4, 2023 | AJHG
Dudley Lab

The functional impact of 1,570 SNP-accessible missense variants in human OTC

Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrew Gropman, Aimée M. Dudley

May 1, 2023 | Diabetes Care
Hagopian Lab

Interaction Between Dietary Iron Intake and Genetically Determined Iron Overload: Risk of Islet Autoimmunity and Progression to Type 1 Diabetes in the TEDDY Study

Thorsen SU, Liu X, Kataria Y, Mandrup-Poulsen T, Kaur S, Uusitalo U, Virtanen SM, Norris JM, Rewers M, Hagopian W, Yang J, She JX, Akolkar B, Rich S, Aronsson CA, Lernmark Å, Ziegler AG, Toppari J, Krischer J, Parikh HM, Ellervik C, Svensson J; TEDDY Study Group 

April 1, 2023 | The Lancet Child & Adolescent Health
Hagopian Lab

Islet autoantibody screening in at-risk adolescents to predict type 1 diabetes until young adulthood: a prospective cohort study 

Ghalwash M, Anand V, Lou O, Martin F, Rewers M, Ziegler AG, Toppari J, Hagopian WA, Veijola R; Type 1 Diabetes Intelligence Study Group 

March 10, 2023 | Haemophilia
Carvalho Lab

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

Somayyeh Fahiminiya, Spyros Oikonomopoulos, Georges-Etienne Rivard, Mira Gandhi, Patrick Scott, Alexandre Montpetit, Shu-Huang Chen, KyungHee Park, Catherine Vezina, Jiannis Ragoussis, Claudia M. B. Carvalho, Grant A. Mitchell, Jean-Francois Soucy, Julie Gauthier

March 2, 2023 | Diabetes Care
Hagopian Lab

Refining the Definition of Stage 1 Type 1 Diabetes: An Ontology-Driven Analysis of the Heterogeneity of Multiple Islet Autoimmunity

Frohnert BI, Ghalwash M, Li Y, Ng K, Dunne JL, Lundgren M, Hagopian W, Lou O, Winkler C, Toppari J, Veijola R, Anand V; T1DI Study Group

March 1, 2023 | The American Journal of Gastroenterology
Hagopian Lab

Incidence of Pediatric Celiac Disease Varies by Region

Stahl M, Li Q, Lynch K, Koletzko S, Mehta P, Gragert L, Norris JM, Andrén Aronsson C, Lindfors K, Kurppa K, Ilonen J, Krischer J, Alkolkar B, Ziegler AG, Toppari J, Rewers MJ, Agardh D, Hagopian W, Liu E; TEDDY Study Group

March 1, 2023 | American Journal of Medical Genetics Part A
Carvalho Lab

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M. Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J. Sedlazeck, Jill V. Hunter, Shalini N. Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E. Posey, Claudia M. B. Carvalho, Richard A. Gibbs, James R. Lupski

February 2, 2023 | PLOS One
Hagopian Lab

Gluten-free diet adherence in children with screening-detected celiac disease using a prospective birth cohort study

Mehta P, Li Q, Stahl M, Uusitalo U, Lindfors K, Butterworth MD, Kurppa K, Virtanen S, Koletzko S, Aronsson C, Hagopian WA, Rewers MJ, Toppari J, Ziegler AG, Akolkar B, Krischer JP, Agardh D, Liu E; TEDDY Study Group 

January 27, 2023 | bioRxiv preprint
McLaughlin Lab

Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps

Michael J Xie, Amy Sirr, Russell S Lo, Gareth A Cromie, Michelle Tang, Julee Ashmead, Katherine Owens, J Nathan Kutz, Richard N McLaughlin Jr, Aimee Dudley

January 1, 2023 | Diabetologia
Hagopian Lab

Quantifying the utility of islet autoantibody levels in the prediction of type 1 diabetes in children

Ng K, Anand V, Stavropoulos H, Veijola R, Toppari J, Maziarz M, Lundgren M, Waugh K, Frohnert BI, Martin F, Lou O, Hagopian W, Achenbach P; T1DI Study Group