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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Hall PL, et al. Among authors: gahl wa. Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10. Mol Genet Metab. 2018. PMID: 29550355 Free PMC article.
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 Free PMC article.
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Among authors: gahl wa. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. Introne WJ, et al. Among authors: gahl wa. Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6. Mol Genet Metab. 2011. PMID: 21620748 Free PMC article. Clinical Trial.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Markello TC, et al. Among authors: gahl wa. Mol Genet Metab. 2012 Apr;105(4):665-71. doi: 10.1016/j.ymgme.2011.12.015. Epub 2011 Dec 24. Mol Genet Metab. 2012. PMID: 22277120 Free PMC article.
Kearns-Sayre syndrome presenting as isolated growth failure.
Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Holloman CM, et al. Among authors: gahl wa. BMJ Case Rep. 2013 Feb 18;2013:bcr2012007272. doi: 10.1136/bcr-2012-007272. BMJ Case Rep. 2013. PMID: 23420719 Free PMC article.
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. Pierson TM, et al. Among authors: gahl wa. Neuromuscul Disord. 2013 Jun;23(6):483-8. doi: 10.1016/j.nmd.2013.01.013. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23453856 Free PMC article.
698 results