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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

December 21, 2022 | eScholarship
Galas Lab

Modified TruSeq Small RNA Library Prep using Randomized 4N Adapters: In house 4N Protocol D

Roger P Alexander, MD Giraldez, RM Spengler, A Etheridge, PM Godoy, AJ Barczak, S Srinivasan, PL De Hoff, K Tanriverdi, A Courtright, S Lu, J Khoory, R Rubio, D Baxter, TAP Driedonks, HPJ Buermans, ENM Nolte-t Hoen, H Jiang, K Wang, I Ghiran, Y Wang, Van Keuren-Jensen, JE Freedman, PG Woodruff, LC Laurent, DJ Erle, DJ Galas, M Tewari

December 21, 2022 | eScholarship
Galas Lab

Library Preparation for small RNA sequencing using 4N adapters: In house 4N Protocol C

Roger P Alexander, MD Giraldez, RM Spengler, A Etheridge, PM Godoy, AJ Barczak, S Srinivasan, PL De Hoff, K Tanriverdi, A Courtright, S Lu, J Khoory, R Rubio, D Baxter, TAP Driedonks, HPJ Buermans, ENM Nolte-t Hoen, H Jiang, K Wang, I Ghiran, Y Wang, Van Keuren-Jensen, JE Freedman, PG Woodruff, LC Laurent, DJ Erle, DJ Galas, M Tewari

December 1, 2022 | Pediatric Diabetes
Hagopian Lab

HbA1c as a time predictive biomarker for an additional islet autoantibody and type 1 diabetes in seroconverted TEDDY children

Salami F, Tamura R, You L, Lernmark Å, Larsson HE, Lundgren M, Krischer J, Ziegler AG, Toppari J, Veijola R, Rewers M, Haller MJ, Hagopian W, Akolkar B, Törn C; TEDDY Study Group

December 1, 2022 | Diabetes
Hagopian Lab

Islet Autoantibody Levels Differentiate Progression Trajectories in Individuals With Presymptomatic Type 1 Diabetes

Kwon BC, Achenbach P, Anand V, Frohnert BI, Hagopian W, Hu J, Koski E, Lernmark Å, Lou O, Martin F, Ng K, Toppari J, Veijola R

November 10, 2022 | Am J Hum Genet.
Carvalho Lab

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R H van Jaarsveld, A M A Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M Fatih, Dana Marafi, Jill A Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A Gibbs, Grace M Hobson, Jill V Hunter, Cláudia M B Carvalho, Jennifer E Posey, Elena V Semina, James R Lupski

November 2, 2022 | J Comput Biol.
Galas Lab

ApoE Modifier Alleles for Alzheimer’s Disease Discovered by Information Theory Dependency Measures: MIST Software Package

Andrew Banman, Nikita A Sakhanenko, James Kunert-Graf, David J Galas

October 27, 2022 | Genome Med.
Carvalho Lab

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Haowei Du, Angad Jolly, Christopher M Grochowski, Bo Yuan, Moez Dawood, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E Scheuerle, Karin Witzl, Jennifer E Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P J Hastings, Weimin Bi, Richard A Gibbs, Fritz J Sedlazeck, James R Lupski, Cláudia M B Carvalho, Pengfei Liu