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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1951 1
1952 1
1954 1
1957 1
1959 2
1961 1
1962 2
1963 1
1964 1
1965 1
1966 2
1967 2
1968 1
1969 1
1970 1
1971 1
1974 2
1976 2
1978 1
1979 2
1981 1
1982 1
1988 4
1989 5
1990 3
1991 3
1992 2
1993 3
1994 2
1995 4
1996 6
1997 6
1998 3
1999 4
2000 4
2001 2
2002 1
2003 1
2004 1
2005 1
2007 1
2008 2
2009 4
2010 1
2011 1
2012 3
2013 5
2014 3
2015 4
2016 1
2017 3
2018 4
2019 6
2020 10
2021 3
2022 3
2023 11
2024 3

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147 results

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Page 1
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets.
Tshilenge KT, Aguirre CG, Bons J, Gerencser AA, Basisty N, Song S, Rose J, Lopez-Ramirez A, Naphade S, Loureiro A, Battistoni E, Milani M, Wehrfritz C, Holtz A, Hetz C, Mooney SD, Schilling B, Ellerby LM. Tshilenge KT, et al. Among authors: holtz a. Mol Cell Proteomics. 2023 May;22(5):100534. doi: 10.1016/j.mcpro.2023.100534. Epub 2023 Mar 22. Mol Cell Proteomics. 2023. PMID: 36958627 Free PMC article.
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Gold NB, et al. Among authors: holtz am. JAMA Netw Open. 2023 May 1;6(5):e2312231. doi: 10.1001/jamanetworkopen.2023.12231. JAMA Netw Open. 2023. PMID: 37155167 Free PMC article.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: holtz am. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Nationwide Study on Stress Perception Among Surgical Residents.
Guglielmetti LC, Gingert C, Holtz A, Westkämper R, Lange J, Adamina M. Guglielmetti LC, et al. Among authors: holtz a. World J Surg. 2022 Jul;46(7):1609-1622. doi: 10.1007/s00268-022-06521-0. Epub 2022 Mar 18. World J Surg. 2022. PMID: 35304643 Free PMC article.
Dual Blockade of EP2 and EP4 Signaling is Required for Optimal Immune Activation and Antitumor Activity Against Prostaglandin-Expressing Tumors.
Francica BJ, Holtz A, Lopez J, Freund D, Chen A, Wang D, Powell D, Kipper F, Panigrahy D, Dubois RN, Whiting CC, Prasit P, Dubensky TW. Francica BJ, et al. Among authors: holtz a. Cancer Res Commun. 2023 Aug 8;3(8):1486-1500. doi: 10.1158/2767-9764.CRC-23-0249. eCollection 2023 Aug. Cancer Res Commun. 2023. PMID: 37559947 Free PMC article.
147 results