Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.
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Wang J, Zhang Y, Mendonca CA, Yukselen O, Muneeruddin K, Ren L, Liang J, Zhou C, Xie J, Li J, Jiang Z, Kucukural A, Shaffer SA, Gao G, Wang D. AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice. Nature. 2022 04; 604(7905):343-348.
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Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Ad?s LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. JAMA. 2020 06 23; 323(24):2503-2511.
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Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet. 2019 02 15; 28(4):525-538.
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Montes M, Sanford BL, Comiskey DF, Chandler DS. RNA Splicing and Disease: Animal Models to Therapies. Trends Genet. 2019 01; 35(1):68-87.
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Flotte TR. Recombinant Adeno-Associated Virus-Based Gene Therapy for Disorders Detected by Newborn Screening: Inherent Limitations of This Approach. Hum Gene Ther. 2018 04; 29(4):401-402.
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Hosur V, Low BE, Avery C, Shultz LD, Wiles MV. Development of Humanized Mice in the Age of Genome Editing. J Cell Biochem. 2017 10; 118(10):3043-3048.
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Smith CE, Fullerton SM, Dookeran KA, Hampel H, Tin A, Maruthur NM, Schisler JC, Henderson JA, Tucker KL, Ordov?s JM. Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities. Health Aff (Millwood). 2016 08 01; 35(8):1367-73.
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Duffy CM, Hilbert BJ, Kelch BA. A Disease-Causing Variant in PCNA Disrupts a Promiscuous Protein Binding Site. J Mol Biol. 2016 Mar 27; 428(6):1023-1040.
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Dobbs K, Dom?nguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, ?ift?i E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22.
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Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015 Jan; 22(1):3-11.