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Page 1
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Kanakatti Shankar R, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group; Backeljauw PF. Gravholt CH, et al. Eur J Endocrinol. 2024 May 15:lvae050. doi: 10.1093/ejendo/lvae050. Online ahead of print. Eur J Endocrinol. 2024. PMID: 38748847
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.
Blanton LV, San Roman AK, Wood G, Buscetta A, Banks N, Skaletsky H, Godfrey AK, Pham TT, Hughes JF, Brown LG, Kruszka P, Lin AE, Kastner DL, Muenke M, Page DC. Blanton LV, et al. Among authors: kruszka p. bioRxiv [Preprint]. 2024 Mar 19:2024.03.18.585578. doi: 10.1101/2024.03.18.585578. bioRxiv. 2024. PMID: 38562807 Free PMC article. Preprint.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Among authors: kruszka p. Cell Genom. 2024 Jan 10;4(1):100462. doi: 10.1016/j.xgen.2023.100462. Epub 2023 Dec 13. Cell Genom. 2024. PMID: 38190107 Free PMC article.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: kruszka p. Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405. Brain. 2024. PMID: 38128548
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Among authors: kruszka p. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: kruszka p. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. San Roman AK, et al. Among authors: kruszka p. bioRxiv [Preprint]. 2023 Jun 7:2023.06.05.543763. doi: 10.1101/2023.06.05.543763. bioRxiv. 2023. PMID: 37333288 Free PMC article. Updated. Preprint.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P. Timberlake AT, et al. Among authors: kruszka p. Am J Hum Genet. 2023 May 4;110(5):846-862. doi: 10.1016/j.ajhg.2023.03.017. Epub 2023 Apr 21. Am J Hum Genet. 2023. PMID: 37086723 Free PMC article.
95 results