14 publications found.
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Goodman LD, Ralhan I, Li X, Lu S, Moulton MJ, Park YJ, Zhao P, Kanca O, Ghaderpour Taleghani ZS, Jacquemyn J, Shulman JM, Ando K, Sun K, Ioannou MS, Bellen HJ (2024). Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nature Neuroscience 27(10):1918-1933 Abstract
Huang Y, Jay KL, Huang AY, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA (2024). Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genetics in Medicine 26(11):101218 Abstract
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ (2024). Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genetics in Medicine 26(9):101174 Abstract
Goodman LD, Moulton MJ, Lin G, Bellen HJ (2024). Does glial lipid dysregulation alter sleep in Alzheimer's and Parkinson's disease? Trends in Molecular Medicine 30(10):913-923 Abstract
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF (2024). Improving access to exome sequencing in a medically underserved population through the Texome Project. Genetics in Medicine 26(6):101102 Abstract
Mao D, Liu C, Wang L, AI-Ouran R, Deisseroth C, Pasupuleti S, Kim SK, Li L, Rosenfeld JA, Meng L, Burrage LC, Wangler M, Yamamoto S, Undiagnosed Diseases Network, Santana M, Perez V, Shukla P, Eng C, Lee B, Yuan B, Xia F, Bellen HJ*, Liu P*, and Liu Z* (2024). AI-MARRVEL-A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI 1(5):10.1056/aioa2300009 Abstract *co-corresponding authors
Liao JZ, Chung HL, Shih C, Wong KKL, Dutta D, Nil Z, Burns CG, Kanca O, Park YJ, Zuo Z, Marcogliese PC, Sew K, Bellen HJ, Verheyen EM (2024). Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila. Nature Communications 15(1):3326 Abstract
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galvan NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ (2024). Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine 26(7):101125 Abstract
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. The American Journal of Human Genetics 111(4):742-760 Abstract
Martelli F, Lin J, Mele S, Imlach W, Kanca O, Barlow CK, Paril J, Schittenhelm RB, Christodoulou J, Bellen HJ, Piper MDW, Johnson TK (2024). Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Reports 43(3):113861 Abstract
Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ (2024). Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proceedings of the National Academy of Science Sci U S A 121(9):e232258212 Abstract
Goodman LD, Moulton MJ, Bellen HJ (2024). Glial lipid droplets resolve ROS during sleep. Nature Neuroscience 27(4):610-612 Abstract
Wilson KA, Bar S, Dammer EB, Carrera EM, Hodge BA, Hilsabeck TAU, Bons J, Brownridge GW 3rd, Beck JN, Rose J, Granath-Panelo M, Nelson CS, Qi G, Gerencser AA, Lan J, Afenjar A, Chawla G, Brem RB, Campeau PM, Bellen HJ, Schilling B, Seyfried NT, Ellerby LM, Kapahi P (2024). OXR1 maintains the retromer to delay brain aging under dietary restriction. Nature Communications 15(1):467 Abstract
Yamamoto S*, Kanca O*, Wangler MF #, Bellen HJ# (2024). Integrating non-mammalian model organism in the diagnosis of rare genetic diseases in humans. Nature Review Genetics 25 (1):41-60 Abstract *equal contribution, # co-corresponding authors