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28 results

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Page 1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
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. Pan X, et al. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
Mendelian gene identification through mouse embryo viability screening.
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu CW, Van den Veyver IB, Flenniken AM, McKerlie C, Murray SA, Teboul L, Heaney JD, Lloyd KCK, Lanoue L, Braun RE, White JK, Creighton AK, Laurin V, Guo R, Qu D, Wells S, Cleak J, Bunton-Stasyshyn R, Stewart M, Harrisson J, Mason J, Haseli Mashhadi H, Parkinson H, Mallon AM; International Mouse Phenotyping Consortium; Genomics England Research Consortium; Smedley D. Cacheiro P, et al. Genome Med. 2022 Oct 13;14(1):119. doi: 10.1186/s13073-022-01118-7. Genome Med. 2022. PMID: 36229886 Free PMC article.
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL; BabySeq Project Team. Pereira S, et al. JAMA Pediatr. 2021 Nov 1;175(11):1132-1141. doi: 10.1001/jamapediatrics.2021.2829. JAMA Pediatr. 2021. PMID: 34424265 Free PMC article. Clinical Trial.
Pediatric Septic Shock Collaborative Improves Emergency Department Sepsis Care in Children.
Depinet H, Macias CG, Balamuth F, Lane RD, Luria J, Melendez E, Myers SR, Patel B, Richardson T, Zaniletti I, Paul R; American Academy of Pediatrics Pediatric Septic Shock Collaborative (PSSC) Investigators. Depinet H, et al. Pediatrics. 2022 Mar 1;149(3):e2020007369. doi: 10.1542/peds.2020-007369. Pediatrics. 2022. PMID: 35229124
A Multi-Center International Analysis of Lung Transplantation Outcomes in Patients With COVID-19.
Kashem MA, Loor G, Emtiazjoo A, Hartwig M, Van Raemdonck D, Calvelli H, Leon Pena A, Salan-Gomez M, Zhao H, Warnick M, Villavicencio M, Ius F, Ghadimi K, Salman J, Chandrashekaran S, Machuca T, Sanchez PG, Subramaniam K, Neyrinck A, Huddleston S, Ceulemans L, Osho A, D'Silva E, Ramamurthy U, Shaffer A, Langer N, Toyoda Y. Kashem MA, et al. Among authors: ramamurthy u. Clin Transplant. 2024 Sep;38(9):e15462. doi: 10.1111/ctr.15462. Clin Transplant. 2024. PMID: 39315691
The BabySeq project: implementing genomic sequencing in newborns.
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team; Green RC, Beggs AH. Holm IA, et al. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. BMC Pediatr. 2018. PMID: 29986673 Free PMC article. Clinical Trial.
28 results