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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: lala s. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Diagnostic Delay in Erythropoietic Protoporphyria.
Lala SM, Naik H, Balwani M. Lala SM, et al. J Pediatr. 2018 Nov;202:320-323.e2. doi: 10.1016/j.jpeds.2018.06.001. Epub 2018 Jul 2. J Pediatr. 2018. PMID: 30041937 Free PMC article. Review.
Experience on postmortem minimally invasive tissue sampling to ascertain the cause of death determination in South African children: A case for implementing as standard of care.
Du Toit J, Storath K, Dunn I, Makekeng P, Moosa M, Mothibi K, Umuneza N, Rees CA, Blau D, Lala S, Adam Y, Velaphi S, Hale M, Swart P, Wadula J, Mothibi L, Wise A, Baba V, Jaglal P, Mahtab S, Madhi S, Dangor Z. Du Toit J, et al. Among authors: lala s. S Afr Med J. 2024 Feb 13;114(2):e1538. doi: 10.7196/SAMJ.2024.v114i2.1538. S Afr Med J. 2024. PMID: 38525575 Free article.
Post-mortem investigation of deaths due to pneumonia in children aged 1-59 months in sub-Saharan Africa and South Asia from 2016 to 2022: an observational study.
Mahtab S, Blau DM, Madewell ZJ, Ogbuanu I, Ojulong J, Lako S, Legesse H, Bangura JS, Bassat Q, Mandomando I, Xerinda E, Fernandes F, Varo R, Sow SO, Kotloff KL, Tapia MD, Keita AM, Sidibe D, Onyango D, Akelo V, Gethi D, Verani JR, Revathi G, Scott JAG, Assefa N, Madrid L, Bizuayehu H, Tirfe TT, El Arifeen S, Gurley ES, Islam KM, Alam M, Zahid Hossain M, Dangor Z, Baillie VL, Hale M, Mutevedzi P, Breiman RF, Whitney CG, Madhi SA; CHAMPS Consortium. Mahtab S, et al. Lancet Child Adolesc Health. 2024 Mar;8(3):201-213. doi: 10.1016/S2352-4642(23)00328-0. Epub 2024 Jan 25. Lancet Child Adolesc Health. 2024. PMID: 38281495 Free PMC article.
Naphthyl bearing 1,3,4-thiadiazoleacetamides targeting the parasitic folate pathway as anti-infectious agents: in silico, synthesis, and biological approach.
Pal K, Lala S, Agarwal P, Patel TS, Legac J, Rahman MA, Ahmedi S, Shahid N, Singh S, Kumari K, Madhav H, Sen A, Manzoor N, Dixit BC, Van Zyl R, Rosenthal PJ, Hoda N. Pal K, et al. Among authors: lala s. RSC Med Chem. 2023 Nov 21;14(12):2768-2781. doi: 10.1039/d3md00423f. eCollection 2023 Dec 13. RSC Med Chem. 2023. PMID: 38107179
Provider adherence to clinical care recommendations for infants and children who died in seven low- and middle-income countries in the Child Health and Mortality Prevention Surveillance (CHAMPS) network.
Rees CA, Igunza KA, Madewell ZJ, Akelo V, Onyango D, El Arifeen S, Gurley ES, Hossain MZ, Rahman A, Alam M, Scott JAG, Assefa N, Madrid L, Belachew A, Leulseged H, Kotloff KL, Sow SO, Tapia MD, Keita AM, Sidibe D, Sitoe A, Varo R, Ajanovic S, Bassat Q, Mandomando I, Tippett Barr BA, Ogbuanu I, Cain CJ, Bassey IA, Luke R, Gassama K, Madhi S, Dangor Z, Mahtab S, Velaphi S, du Toit J, Mutevedzi PC, Blau DM, Breiman RF, Whitney CG; Child Health and Mortality Prevention Surveillance Network. Rees CA, et al. EClinicalMedicine. 2023 Aug 31;63:102198. doi: 10.1016/j.eclinm.2023.102198. eCollection 2023 Sep. EClinicalMedicine. 2023. PMID: 37692079 Free PMC article.
148 results