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Page 1
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B, Labella R, Cuesta-Dominguez A, Luo N, De Angelis J, Mosialou I, Lin CS, Beck D, Lata S, Shyu PT, McMahon DJ, Guo E, Hagen J, Chung WK, Shane E, Cohen A, Kousteni S. Bisikirska B, et al. Among authors: chung wk. Sci Transl Med. 2024 Oct 16;16(769):eadj0085. doi: 10.1126/scitranslmed.adj0085. Epub 2024 Oct 16. Sci Transl Med. 2024. PMID: 39413162
Physical activity during adolescence and early adulthood and breast cancer risk before age 40 years.
Kehm RD, Genkinger JM, Knight JA, Maclnnis RJ, Liao Y, Li S, Weideman PC, Chung WK, Kurian AW, Colonna SV, Andrulis IL, Buys SS, Daly MB, John EM, Hopper JL, Terry MB. Kehm RD, et al. Among authors: chung wk. Cancer Epidemiol Biomarkers Prev. 2024 Oct 15. doi: 10.1158/1055-9965.EPI-24-0743. Online ahead of print. Cancer Epidemiol Biomarkers Prev. 2024. PMID: 39404779
Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension.
Gomez-Arroyo J, Houweling AC, Bogaard HJ, Aman J, Kitzmiller JA, Porollo A, Dooijes D, Meijboom LJ, Hale P, Pauciulo MW, Hong J, Zhu N, Welch C, Shen Y, Zacharias WJ, McCormack FX, Aldred MA, Weirauch MT, Graf S, Rhodes C, Chung WK, Whitsett JA, Martin LJ, Kalinichenko VV, Nichols WC. Gomez-Arroyo J, et al. Among authors: chung wk. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.611448. doi: 10.1101/2024.09.18.611448. bioRxiv. 2024. PMID: 39345371 Free PMC article. Preprint.
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.
Qiao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas JM, Buchmiller T, Khlevner J, De A, Farkouh-Karoleski C, Wagner AJ, Heydweiller A, Mueller AC, de Klein A, Warner BW, Maj C, Chung D, McCulley DJ, Schindel D, Potoka D, Fialkowski E, Schulz F, Kipfmuller F, Lim FY, Magielsen F, Mychaliska GB, Aspelund G, Reutter HM, Needelman H, Schnater JM, Fisher JC, Azarow K, Elfiky M, Nöthen MM, Danko ME, Li M, Kosiński P, Wijnen RMH, Cusick RA, Soffer SZ, Cochius-Den Otter SCM, Schaible T, Crombleholme T, Duron VP, Donahoe PK, Sun X, High FA, Bendixen C, Brosens E, Shen Y, Chung WK. Qiao L, et al. Among authors: chung wk. Am J Hum Genet. 2024 Sep 24:S0002-9297(24)00334-3. doi: 10.1016/j.ajhg.2024.08.024. Online ahead of print. Am J Hum Genet. 2024. PMID: 39332409
Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency.
Loranger N, Vishnevetsky A, Spencer-Manzon M, Karn E, Chung WK, Roche A, Ruiz ES. Loranger N, et al. Among authors: chung wk. JAMA Otolaryngol Head Neck Surg. 2024 Sep 26. doi: 10.1001/jamaoto.2024.2489. Online ahead of print. JAMA Otolaryngol Head Neck Surg. 2024. PMID: 39325476
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Ca… See abstract for full author list ➔ Cali E, et al. Among authors: chung wk. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Genetics and precision genomics approaches to pulmonary hypertension.
Austin ED, Aldred MA, Alotaibi M, Gräf S, Nichols WC, Trembath RC, Chung WK. Austin ED, et al. Among authors: chung wk. Eur Respir J. 2024 Aug 29:2401370. doi: 10.1183/13993003.01370-2024. Online ahead of print. Eur Respir J. 2024. PMID: 39209481 Free article.
PLCG2 variants in cherubism.
Chester JG, Carcamo B, Gudis DA, Bustamante D, Eisig SB, Ombrello MJ, Chung WK, Milner JD. Chester JG, et al. Among authors: chung wk. J Allergy Clin Immunol. 2024 Aug 27:S0091-6749(24)00868-6. doi: 10.1016/j.jaci.2024.08.016. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39197752
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Iruzubieta P, et al. Among authors: chung wk. EBioMedicine. 2024 Sep;107:105297. doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26. EBioMedicine. 2024. PMID: 39191170 Free PMC article.
1,060 results