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Orphanet Journal of Rare Diseases|March 13, 2024
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one caseMateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, et al.
Nature Genetics|May 23, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencingKenneth A Matreyek, Lea M Starita, Jason J Stephany, et al.
Mitochondrion|February 21, 2017
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiencyMariella T Simon, Bobby G Ng, Marisa W Friederich, et al.
Molecular Biology and Evolution|January 22, 2015
Long-Term Balancing Selection in LAD1 Maintains a Missense Trans-Species Polymorphism in Humans, Chimpanzees, and BonobosJoão C Teixeira, Cesare de Filippo, Antje Weihmann, et al.
Plos Genetics|October 4, 2023
Functional dissection and assembly of a small, newly evolved, W chromosome-specific genomic region of the African clawed frog Xenopus laevisCaroline M S Cauret, Danielle C Jordan, Lindsey M Kukoly, et al.
Molecular Ecology Resources|October 24, 2017
The impact of endogenous content, replicates and pooling on genome capture from faecal samplesJessica Hernandez-Rodriguez, Mimi Arandjelovic, Jack Lester, et al.
Nature|March 16, 2016
Nuclear DNA sequences from the Middle Pleistocene Sima de los Huesos homininsMatthias Meyer, Juan-Luis Arsuaga, Cesare de Filippo, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 15, 2017
Fossil and genomic evidence constrains the timing of bison arrival in North AmericaDuane Froese, Mathias Stiller, Peter D Heintzman, et al.
American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
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