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143 results

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Page 1
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: kang pb. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
Transcriptional profile of postmortem skeletal muscle.
Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH. Sanoudou D, et al. Among authors: kang pb. Physiol Genomics. 2004 Jan 15;16(2):222-8. doi: 10.1152/physiolgenomics.00137.2003. Physiol Genomics. 2004. PMID: 14625377
Distinctive patterns of microRNA expression in primary muscular disorders.
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM. Eisenberg I, et al. Among authors: kang pb. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):17016-21. doi: 10.1073/pnas.0708115104. Epub 2007 Oct 17. Proc Natl Acad Sci U S A. 2007. PMID: 17942673 Free PMC article.
LGMD2I in a North American population.
Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. Kang PB, et al. BMC Musculoskelet Disord. 2007 Nov 24;8:115. doi: 10.1186/1471-2474-8-115. BMC Musculoskelet Disord. 2007. PMID: 18036232 Free PMC article.
Congenital myasthenic syndrome with episodic apnea.
Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB. Mallory LA, et al. Among authors: kang pb. Pediatr Neurol. 2009 Jul;41(1):42-5. doi: 10.1016/j.pediatrneurol.2009.02.017. Pediatr Neurol. 2009. PMID: 19520274 Free PMC article.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: kang pb. Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13. Neurogenetics. 2010. PMID: 20623375 Free PMC article.
143 results