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Clinical Genetics|July 20, 2022
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyElisa De Franco, Matthew N Wakeling, Russel D Frew, et al.Cardiovascular Digital Health Journal|March 10, 2022
Patient responses to daily cardiac resynchronization therapy device data: A pilot trial assessing a novel patient-centered digital dashboard in everyday lifeTammy Toscos, Carly Daley, Shauna Wagner, et al.Endocrine Connections|August 11, 2022
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, et al.Plos Computational Biology|March 16, 2022
SavvyCNV: Genome-wide CNV calling from off-target readsThomas W Laver, Elisa De Franco, Matthew B Johnson, et al.Hypertension (Dallas, Tex. : 1979)|June 17, 2000
Low birth weight predicts elevated plasma cortisol concentrations in adults from 3 populationsD I Phillips, B R Walker, R M Reynolds, et al.Administration and Policy in Mental Health|November 14, 2015
The Relationship Between Provider Competence, Content Exposure, and Consumer Outcomes in Illness Management and Recovery ProgramsAlan B McGuire, Dominique A White, Tom Bartholomew, et al.Journal of Alzheimer'S Disease : JAD|November 20, 2018
TDP-43 Neuropathologic Associations in the Nun Study and the Honolulu-Asia Aging StudyMargaret E Flanagan, Brenna Cholerton, Caitlin S Latimer, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|July 3, 2026
Birth prevalence and characterisation of congenital hyperinsulinism in Western Australia over two decadesAdam J Stafford-Bell, Amanda J Hooper, Rachel Romans, et al.Diabetologia|March 13, 2008
A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complicationsP Tammaro, S E Flanagan, B Zadek, et al.Nature Genetics|December 14, 2011
GATA6 haploinsufficiency causes pancreatic agenesis in humansHana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.Pageof 51