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Items: 13

1.

Cohesin complex-associated holoprosencephaly.

Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M.

Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210.

PMID:
31334757
2.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.

Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA.

Genet Med. 2019 Sep;21(9):2135-2144. doi: 10.1038/s41436-019-0475-4. Epub 2019 Mar 20.

PMID:
30890783
3.

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.

Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003608. doi: 10.1101/mcs.a003608. Print 2019 Jun.

4.

The phenotypic spectrum of Xia-Gibbs syndrome.

Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA.

Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25.

5.

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Stokes B, Berger SI, Hall BA, Weiss K, Martinez AF, Hadley DW, Murdock DR, Ramanathan S, Clark RD, Roessler E, Kruszka P, Muenke M.

Congenit Anom (Kyoto). 2018 Jan;58(1):29-32. doi: 10.1111/cga.12234. Epub 2017 Aug 1.

6.

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P.

J Clin Endocrinol Metab. 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414.

7.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA.

BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64.

8.

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW.

Clin Genet. 2013 May;83(5):457-461. doi: 10.1111/j.1399-0004.2012.01951.x. Epub 2012 Sep 11.

9.

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB.

Am J Med Genet A. 2011 Sep;155A(9):2071-7. doi: 10.1002/ajmg.a.34165. Epub 2011 Aug 10.

10.

Whole-genome sequencing for optimized patient management.

Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA.

Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.

11.

Studies of plasma membrane mechanics and plasma membrane-cytoskeleton interactions using optical tweezers and fluorescence imaging.

Ermilov SA, Murdock DR, Qian F, Brownell WE, Anvari B.

J Biomech. 2007;40(2):476-80. Epub 2006 Feb 28.

PMID:
16500663
12.

Effects of chlorpromazine on mechanical properties of the outer hair cell plasma membrane.

Murdock DR, Ermilov SA, Spector AA, Popel AS, Brownell WE, Anvari B.

Biophys J. 2005 Dec;89(6):4090-5. Epub 2005 Sep 30.

13.

Effects of salicylate on plasma membrane mechanics.

Ermilov SA, Murdock DR, El-Daye D, Brownell WE, Anvari B.

J Neurophysiol. 2005 Sep;94(3):2105-10. Epub 2005 Jun 15.

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