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

Year Number of Results
1995 1
2003 1
2007 1
2009 2
2010 2
2011 3
2012 2
2013 6
2014 2
2015 4
2016 2
2017 4
2018 2
2021 0
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28 results
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Page 1
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Swanson MA, et al. Among authors: scharer gh. Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. Ann Neurol. 2015. PMID: 26179960 Free PMC article.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: scharer gh. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Among authors: scharer g. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
Biallelic TOR1A variants in an infant with severe arthrogryposis.
Reichert SC, Gonzalez-Alegre P, Scharer GH. Reichert SC, et al. Among authors: scharer gh. Neurol Genet. 2017 May 9;3(3):e154. doi: 10.1212/NXG.0000000000000154. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28516161 Free PMC article. No abstract available.
BAG3 myofibrillar myopathy presenting with cardiomyopathy.
Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP. Konersman CG, et al. Among authors: scharer g. Neuromuscul Disord. 2015 May;25(5):418-22. doi: 10.1016/j.nmd.2015.01.009. Epub 2015 Feb 4. Neuromuscul Disord. 2015. PMID: 25728519
Genomics in clinical practice: lessons from the front lines.
Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, Geurts J, Harris J, Helbling D, Joers BJ, Kliegman R, Kowalski G, Lazar J, Margolis DA, North P, Northup J, Roquemore-Goins A, Scharer G, Shimoyama M, Strong K, Taylor B, Tsaih SW, Tschannen MR, Veith RL, Wendt-Andrae J, Wilk B, Worthey EA. Jacob HJ, et al. Among authors: scharer g. Sci Transl Med. 2013 Jul 17;5(194):194cm5. doi: 10.1126/scitranslmed.3006468. Sci Transl Med. 2013. PMID: 23863829
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. Yu HC, et al. Among authors: scharer g. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022. Am J Hum Genet. 2013. PMID: 24011988 Free PMC article.
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