Results 251 to 260 of about 6,725,001 (330)

Evaluating ARG-estimation methods in the context of estimating population-mean polygenic score histories. [PDF]

Genetics
Peng D, Mulder OJ, Edge MD.
europepmc   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

High-recombining genomic regions affect demography inference based on ancestral recombination graphs. [PDF]

Genetics
Ishigohoka J, Liedvogel M.
europepmc   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Complex determinants of R-loop formation at transposable elements and major DNA satellites. [PDF]

Genetics
Stanek TJ, Kneebone A, Lawlor MA, Cao W, Ellison CE.   +4 more
europepmc   +1 more source

Pandora: a tool to estimate dimensionality reduction stability of genotype data. [PDF]

Bioinform Adv
Haag J, Jordan AI, Stamatakis A.
europepmc   +1 more source

Correction: The genetic landscape of Lynch syndrome in the Israeli population. [PDF]

Fam Cancer
Shtaya AA, Nathan SN, Kedar I, Friedman E, Half E, Lidzbarsky G, Levi GR, Laish I, Katz L, Bazak L, Peretz LP, Salmon LB, Douiev L, Kalis ML, Schechter M, Barzily-Rokni M, Samra NN, Abu-Freha N, Hagari-Bechar O, Segol O, Mattar S, Barhom SF, Mordechai S, Rafid SS, Shalev SA, Peretz-Yablonski T, Levi Z, Bruchim R, Vinkler C, Bernstein-Molho R, Lieberman S, Goldberg Y.   +31 more
europepmc   +1 more source

Author Correction: Heritable polygenic editing: the next frontier in genomic medicine? [PDF]

Nature
Visscher PM, Gyngell C, Yengo L, Savulescu J.   +3 more
europepmc   +1 more source

Signatures of natural selection may indicate a genetic basis for the beneficial effects of oily fish intake in indigenous people from coastal Ecuador. [PDF]

G3 (Bethesda)
Brandt DYC, Del Brutto OH, Nielsen R.
europepmc   +1 more source

Examining the genetic relationship between Alzheimer's disease, schizophrenia and their shared risk factors using genomic structural equation modelling. [PDF]

Brain Commun
Almeida E Sousa I, Grotzinger AD, Lawrence JM, Breunig S, Marshall CR, Korszun A, Foote IF.   +6 more
europepmc   +1 more source