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Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: campo md. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF; RCIGM Investigators. Sweeney NM, et al. Among authors: campo md. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002469. doi: 10.1101/mcs.a002469. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29549119 Free PMC article.
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. Among authors: campo md. 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.
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Nanni L, et al. Among authors: campo md. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: campo md. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Efficacy of halopeRIdol to decrease the burden of Delirium In adult Critically ill patiEnts (EuRIDICE): study protocol for a prospective randomised multi-centre double-blind placebo-controlled clinical trial in the Netherlands.
Smit L, Trogrlić Z, Devlin JW, Osse RJ, Ponssen HH, Slooter AJC, Hunfeld NGM, Rietdijk WJR, Gommers D, van der Jagt M; EuRIDICE study group. Smit L, et al. BMJ Open. 2020 Sep 23;10(9):e036735. doi: 10.1136/bmjopen-2019-036735. BMJ Open. 2020. PMID: 32967873 Free PMC article.
The Development and Content Validation of a Clinical Screening Scale to Identify Attention-Deficit Hyperactivity Disorder Cases Based on the Gender Perspective: An e-Delphi Study.
Perez-Beltran M, Roldán-Merino J, Russi ME, Rolandi MG, Colome Roura R, Sampaio F, Del Campo MD, Farres-Tarafa M, Pardos BH, Alda Díez JÁ. Perez-Beltran M, et al. Among authors: del campo md. Healthcare (Basel). 2024 Jun 27;12(13):1282. doi: 10.3390/healthcare12131282. Healthcare (Basel). 2024. PMID: 38998817 Free PMC article.
Mediation of Age and Thrombectomy Outcome by Neuroimaging Markers of Frailty in Patients With Stroke.
Benali F, Singh N, Fladt J, Jaroenngarmsamer T, Bala F, Ospel JM, Buck BH, Dowlatshahi D, Field TS, Hanel RA, Peeling L, Tymianski M, Hill MD, Goyal M, Ganesh A; ESCAPE-NA1 Investigators. Benali F, et al. JAMA Netw Open. 2024 Jan 2;7(1):e2349628. doi: 10.1001/jamanetworkopen.2023.49628. JAMA Netw Open. 2024. PMID: 38165676 Free PMC article. Clinical Trial.
Protein disulfide isomerases as CSF biomarkers for the neuronal response to tau pathology.
Wolzak K, Vermunt L, Campo MD, Jorge-Oliva M, van Ziel AM, Li KW, Smit AB, Chen-Ploktkin A, Irwin DJ, Lemstra AW, Pijnenburg Y, van der Flier W, Zetterberg H, Gobom J, Blennow K, Visser PJ, Teunissen CE, Tijms BM, Scheper W. Wolzak K, et al. Among authors: campo md. Alzheimers Dement. 2023 Aug;19(8):3563-3574. doi: 10.1002/alz.12978. Epub 2023 Feb 24. Alzheimers Dement. 2023. PMID: 36825551
38 results