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April 1, 2022 | European Journal of Human Genetics
Carvalho Lab

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

Moez Dawood, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Jaya Punetha, Jaya Punetha, Dana Marafi, Christopher M Grochowski, Haowei Du, Angad Jolly, Zeynep Coban-Akdemir, Shalini N Jhangiani, Jill V Hunter, Davut Pehlivan, Jennifer E Posey, Claudia Carvalho, Richard A Gibbs, James R Lupsk

March 28, 2022 | Developmental Cell
McLaughlin Lab

The endophilin curvature-sensitive motif requires electrostatic guidance to recycle synaptic vesicles in vivo

Lin Zhang, Yu Wang, Yongming Dong, Aaradhya Pant, Yan Liu, Laura Masserman, Ye Xu, Richard N McLaughlin, Jihong Bai

March 21, 2022 | Nature Communications
Hagopian Lab

Progression of type 1 diabetes from latency to symptomatic disease is predicted by distinct autoimmune trajectories

Kwon BC, Anand V, Achenbach P, Dunne JL, Hagopian W, Hu J, Koski E, Lernmark Å, Lundgren M, Ng K, Toppari J, Veijola R, Frohnert BI; T1DI Study Group

 

March 16, 2022 | Scientific Reports
Hagopian Lab

Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study

Törn C, Liu X, Onengut-Gumuscu S, Counts KM, Moreno JL, Remedios CL, Chen WM, LeFaive J, Butterworth MD, Akolkar B, Krischer JP, Lernmark Å, Rewers M, She JX, Toppari J, Ziegler AG, Ratan A, Smith AV, Hagopian WA, Rich SS, Parikh HM; TEDDY Study Group. 

March 1, 2022 | Nature Medicine
Hagopian Lab

Author Correction: A combined risk score enhances prediction of type 1 diabetes among susceptible children

Ferrat LA, Vehik K, Sharp SA, Lernmark Å, Rewers MJ, She JX, Ziegler AG, Toppari J, Akolkar B, Krischer JP, Weedon MN, Oram RA, Hagopian WA; TEDDY Study Group; Committees. 

March 1, 2022 | Diabetes Care
Hagopian Lab

Heterogeneity of DKA Incidence and Age-Specific Clinical Characteristics in Children Diagnosed With Type 1 Diabetes in the TEDDY Study

Jacobsen LM, Vehik K, Veijola R, Warncke K, Toppari J, Steck AK, Gesualdo P, Akolkar B, Lundgren M, Hagopian WA, She JX, Rewers M, Ziegler AG, Krischer JP, Larsson HE, Haller MJ; TEDDY Study Group

February 23, 2022 | Pathogens.
Metzger Lab

Survival and Detection of Bivalve Transmissible Neoplasia from the Soft-Shell Clam Mya arenaria (MarBTN) in Seawater

Rachael M Giersch, Samuel F M Hart, Satyatejas G Reddy, Marisa A Yonemitsu, María J Orellana Rosales, Madelyn Korn, Brook M Geleta, Peter D Countway, José A Fernández Robledo, Michael J Metzger

February 22, 2022 | PLoS One.
Stubbs Lab

An epigenomic shift in amygdala marks the transition to maternal behaviors in alloparenting virgin female mice

Christopher H. Seward, Michael C. Saul, Joseph M. Troy, Payam Dibaeinia, Huimin Zhang, Saurabh Sinha, Lisa J. Stubbs

February 21, 2022 | AMIA Annual Symposium Proceedings Archive
Hagopian Lab

Simulating Screening for Risk of Childhood Diabetes: The Collaborative Open Outcomes tooL (COOL)

Ghalwash M, Koski E, Veijola R, Toppari J, Hagopian W, Rewers M, Anand V. 

February 9, 2022 | Genet Med.
Carvalho Lab

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M Baxter, Jennifer E Posey, Nicole J Lake, Nara Sobreira, Jessica X Chong, Steven Buyske, Elizabeth E Blue, Lisa H Chadwick, Zeynep H Coban-Akdemir, Kimberly F Doheny, Colleen P Davis, Monkol Lek, Christopher Wellington, Shalini N Jhangiani, Mark Gerstein, Richard A Gibbs,Richard P Lifton, Daniel G MacArthur, Tara C Matise, James R Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Shrikant Mane, Deborah A Nickerson; Centers for Mendelian Genomics Consortium; Heidi L Rehm, Anne O’Donnell-Luria