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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Medical duty and advocacy for Palestine.
Dehghan R, Smith J, Shahid HJ, Hadley D, Hopkinshaw B. Dehghan R, et al. Among authors: hadley d. Lancet. 2024 Jan 27;403(10424):349. doi: 10.1016/S0140-6736(24)00012-6. Epub 2024 Jan 16. Lancet. 2024. PMID: 38242146 No abstract available.
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
Gaza: a plea to reclaim our collective humanity.
Khwaja A, Bell I, Hadley D, Price H, Turnbull C. Khwaja A, et al. Among authors: hadley d. Lancet. 2023 Nov 25;402(10416):1975. doi: 10.1016/S0140-6736(23)02510-2. Epub 2023 Nov 10. Lancet. 2023. PMID: 37956692 No abstract available.
Erratum: Search for Cosmic-Ray Boosted Sub-GeV Dark Matter Using Recoil Protons at Super-Kamiokande [Phys. Rev. Lett. 130, 031802 (2023)].
Abe K, Hayato Y, Hiraide K, Ieki K, Ikeda M, Kameda J, Kanemura Y, Kaneshima R, Kashiwagi Y, Kataoka Y, Miki S, Mine S, Miura M, Moriyama S, Nakano Y, Nakahata M, Nakayama S, Noguchi Y, Okamoto K, Sato K, Sekiya H, Shiba H, Shimizu K, Shiozawa M, Sonoda Y, Suzuki Y, Takeda A, Takemoto Y, Takenaka A, Tanaka H, Watanabe S, Yano T, Han S, Kajita T, Okumura K, Tashiro T, Tomiya T, Wang X, Xia J, Yoshida S, Megias GD, Fernandez P, Labarga L, Ospina N, Zaldivar B, Pointon BW, Kearns E, Raaf JL, Wan L, Wester T, Bian J, Griskevich NJ, Kropp WR, Locke S, Smy MB, Sobel HW, Takhistov V, Yankelevich A, Hill J, Park RG, Bodur B, Scholberg K, Walter CW, Bernard L, Coffani A, Drapier O, El Hedri S, Giampaolo A, Mueller TA, Santos AD, Paganini P, Quilain B, Ishizuka T, Nakamura T, Jang JS, Learned JG, Choi K, Cao S, Anthony LHV, Martin D, Scott M, Sztuc AA, Uchida Y, Berardi V, Catanesi MG, Radicioni E, Calabria NF, Machado LN, De Rosa G, Collazuol G, Iacob F, Lamoureux M, Mattiazzi M, Ludovici L, Gonin M, Pronost G, Fujisawa C, Maekawa Y, Nishimura Y, Friend M, Hasegawa T, Ishida T, Kobayashi T, Jakkapu M, Matsubara T, Nakadaira T, Nakamura K, Oyama Y, Sakashita K, Sekiguchi T, Tsukamoto T, Bos… See abstract for full author list ➔ Abe K, et al. Among authors: hadley d. Phys Rev Lett. 2023 Oct 13;131(15):159903. doi: 10.1103/PhysRevLett.131.159903. Phys Rev Lett. 2023. PMID: 37897794
539 results