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Page 1
The Ancestral Pace of Variant Reclassification.
Plon SE, Rehm HL. Plon SE, et al. J Natl Cancer Inst. 2018 Oct 1;110(10):1133-1134. doi: 10.1093/jnci/djy075. J Natl Cancer Inst. 2018. PMID: 29757403 Free PMC article. No abstract available.
From Oedipus to PACE, using the concepts of shame and guilt as golden thread.
Beckmann KM. Beckmann KM. Australas Psychiatry. 2016 Feb;24(1):81-3. doi: 10.1177/1039856215609759. Epub 2015 Oct 20. Australas Psychiatry. 2016. PMID: 26487323 Review.
Within limitations, a narrative is presented, starting with Oedipus in antiquity, visiting several important philosophical theories and ending in the present time with, for example, Dan Hughes' PACE model for therapy. RESULTS: The first part expands on selected idea …
Within limitations, a narrative is presented, starting with Oedipus in antiquity, visiting several important philosophical theories and endi …
Cardiovascular Outcomes with Ertugliflozin in Type 2 Diabetes.
Cannon CP, Pratley R, Dagogo-Jack S, Mancuso J, Huyck S, Masiukiewicz U, Charbonnel B, Frederich R, Gallo S, Cosentino F, Shih WJ, Gantz I, Terra SG, Cherney DZI, McGuire DK; VERTIS CV Investigators. Cannon CP, et al. N Engl J Med. 2020 Oct 8;383(15):1425-1435. doi: 10.1056/NEJMoa2004967. Epub 2020 Sep 23. N Engl J Med. 2020. PMID: 32966714 Clinical Trial.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Epigenetics and Human Disease.
Zoghbi HY, Beaudet AL. Zoghbi HY, et al. Cold Spring Harb Perspect Biol. 2016 Feb 1;8(2):a019497. doi: 10.1101/cshperspect.a019497. Cold Spring Harb Perspect Biol. 2016. PMID: 26834142 Free PMC article. Review.
Genetic causes for human disorders are being discovered at an unprecedented pace. A growing subclass of disease-causing mutations involves changes in the epigenome or in the abundance and activity of proteins that regulate chromatin structure. ...
Genetic causes for human disorders are being discovered at an unprecedented pace. A growing subclass of disease-causing mutations inv …
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Supervised Machine Learning for Population Genetics: A New Paradigm.
Schrider DR, Kern AD. Schrider DR, et al. Trends Genet. 2018 Apr;34(4):301-312. doi: 10.1016/j.tig.2017.12.005. Epub 2018 Jan 10. Trends Genet. 2018. PMID: 29331490 Free PMC article. Review.
As population genomic datasets grow in size, researchers are faced with the daunting task of making sense of a flood of information. To keep pace with this explosion of data, computational methodologies for population genetic inference are rapidly being developed to best u …
As population genomic datasets grow in size, researchers are faced with the daunting task of making sense of a flood of information. To keep …
Nanoparticle-plant interaction: Implications in energy, environment, and agriculture.
Rai PK, Kumar V, Lee S, Raza N, Kim KH, Ok YS, Tsang DCW. Rai PK, et al. Environ Int. 2018 Oct;119:1-19. doi: 10.1016/j.envint.2018.06.012. Epub 2018 Jun 14. Environ Int. 2018. PMID: 29909166 Review.
In the recent techno-scientific revolution, nanotechnology has gained popularity at a rapid pace in different sectors and disciplines, specifically environmental, sensing, bioenergy, and agricultural systems. ...
In the recent techno-scientific revolution, nanotechnology has gained popularity at a rapid pace in different sectors and disciplines …
Phenotypic plasticity and the perception-action-cognition-environment paradigm in neurodevelopmental genetic disorders.
Dan B, Pelc K, de Meirleir L, Cheron G. Dan B, et al. Dev Med Child Neurol. 2015 Apr;57 Suppl 2:52-4. doi: 10.1111/dmcn.12694. Dev Med Child Neurol. 2015. PMID: 25690118 Free article. Review.
They can be documented in a host of neurodevelopmental conditions and approached with the recently refined perception-action-cognition-environment (PACE) paradigm, which focuses on the neurodevelopmental processes that underlie learning and adaption to the environment thro …
They can be documented in a host of neurodevelopmental conditions and approached with the recently refined perception-action-cognition-envir …
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
52 results