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

Year Number of Results
1985 1
1986 2
1987 2
1988 1
1990 4
1991 1
1993 2
1994 3
1996 7
1997 6
1998 3
1999 6
2000 6
2001 3
2002 4
2003 6
2004 9
2005 8
2006 7
2007 4
2008 4
2009 8
2010 12
2011 12
2012 12
2013 10
2014 6
2015 5
2016 5
2017 12
2018 6
2019 2
2020 10
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167 results
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Page 1
Mitochondrial DNA maintenance defects.
El-Hattab AW, Craigen WJ, Scaglia F. El-Hattab AW, et al. Among authors: craigen wj. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1539-1555. doi: 10.1016/j.bbadis.2017.02.017. Epub 2017 Feb 16. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28215579 Free article. Review.
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. Among authors: craigen wj. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress.
Nemani N, Carvalho E, Tomar D, Dong Z, Ketschek A, Breves SL, Jaña F, Worth AM, Heffler J, Palaniappan P, Tripathi A, Subbiah R, Riitano MF, Seelam A, Manfred T, Itoh K, Meng S, Sesaki H, Craigen WJ, Rajan S, Shanmughapriya S, Caplan J, Prosser BL, Gill DL, Stathopulos PB, Gallo G, Chan DC, Mishra P, Madesh M. Nemani N, et al. Among authors: craigen wj. Cell Rep. 2018 Apr 24;23(4):1005-1019. doi: 10.1016/j.celrep.2018.03.098. Cell Rep. 2018. PMID: 29694881 Free PMC article.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. Among authors: craigen wj. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN. Miszalski-Jamka K, et al. Among authors: craigen wj. Circ Cardiovasc Genet. 2017 Aug;10(4):e001763. doi: 10.1161/CIRCGENETICS.117.001763. Circ Cardiovasc Genet. 2017. PMID: 28798025 Free PMC article.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Miller MJ, et al. Among authors: craigen wj. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. Mol Genet Metab. 2015. PMID: 26385305 Free PMC article.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Among authors: craigen wj. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Shinawi M, et al. Among authors: craigen wj. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914906 Free PMC article.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: craigen wj. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Bekheirnia MR, et al. Among authors: craigen wj. Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657687 Free PMC article.
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