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

Year Number of Results
1990 1
1993 2
1995 3
1996 3
1998 1
1999 1
2000 1
2001 1
2002 1
2008 1
2009 3
2010 2
2011 3
2012 2
2013 3
2014 9
2015 7
2016 3
2017 4
2018 5
2019 11
2020 12
2021 8
2022 7
2023 8
2024 1

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83 results

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Page 1
Incontinentia Pigmenti.
Scheuerle AE, Ursini MV. Scheuerle AE, et al. 1999 Jun 8 [updated 2017 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Jun 8 [updated 2017 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301645 Free Books & Documents. Review.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: scheuerle ae. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: scheuerle ae. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
The childless man.
Scheuerle AE, Picconi JL, Neidich J, Panny S, Plecher BA, Randolph LM, Trapane P, Trotter TL. Scheuerle AE, et al. Am J Med Genet A. 2014 Feb;164A(2):561. doi: 10.1002/ajmg.a.36290. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311465 No abstract available.
Incontinentia pigmenti in adults.
Scheuerle AE. Scheuerle AE. Am J Med Genet A. 2019 Aug;179(8):1415-1419. doi: 10.1002/ajmg.a.61205. Epub 2019 May 22. Am J Med Genet A. 2019. PMID: 31119873
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Among authors: scheuerle ae. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
Asymmetric faces: Symbolic, spiritual, and representative.
Scheuerle AE, Firth RM. Scheuerle AE, et al. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):278-282. doi: 10.1002/ajmg.c.31901. Epub 2021 May 13. Am J Med Genet C Semin Med Genet. 2021. PMID: 33982860
Clinical Exome Studies Have Inconsistent Coverage.
Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY. Gotway G, et al. Among authors: scheuerle ae. Clin Chem. 2020 Jan 1;66(1):199-206. doi: 10.1093/clinchem.2019.306795. Clin Chem. 2020. PMID: 32609854
Risk factors and time trends for isolated craniosynostosis.
Schraw JM, Woodhouse JP, Langlois PH, Canfield MA, Scheuerle AE, Agopian AJ, Benjamin RH, Lupo PJ. Schraw JM, et al. Among authors: scheuerle ae. Birth Defects Res. 2021 Jan 1;113(1):43-54. doi: 10.1002/bdr2.1824. Epub 2020 Oct 22. Birth Defects Res. 2021. PMID: 33091229
Neonatal Encephalopathy with Hiccups and an Updated Diagnostic Approach.
Chokshi RK, Cheng A, Ferrante L, Machie M, Scheuerle AE, Veltkamp D, Brion LP. Chokshi RK, et al. Among authors: scheuerle ae. Neoreviews. 2023 Nov 1;24(11):e741-e743. doi: 10.1542/neo.24-11-e741. Neoreviews. 2023. PMID: 37907401 No abstract available.
83 results