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Archives of Disease in Childhood|May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencingArunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Frontiers in Plant Science|August 25, 2016
Development of Gene-Pyramid Lines of the Elite Restorer Line, RPHR-1005 Possessing Durable Bacterial Blight and Blast ResistanceV Abhilash Kumar, C H Balachiranjeevi, S Bhaskar Naik, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 17, 2023
Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II TrialRobert D Morgan, Andrew R Clamp, Daniel J White, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
Plos One|May 12, 2011
Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorderRené A W Frank, Allan F McRae, Andrew J Pocklington, et al.
Arthritis and Rheumatism|May 14, 2013
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferationAlexandre Belot, Paul R Kasher, Eleanor W Trotter, et al.
Human Heredity|January 29, 2008
Maternal footprints of Southeast Asians in North IndiaKumarasamy Thangaraj, Gyaneshwer Chaubey, Toomas Kivisild, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
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