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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Authors :Sanders SJ , Ercan-Sencicek AG , Hus V , Luo R , Murtha MT , Moreno-De-Luca D , Chu SH , Moreau MP , Gupta AR , Thomson SA , Mason CE , Bilguvar K , Celestino-Soper PB , Choi M , Crawford EL , Davis L , Wright NR , Dhodapkar RM , DiCola M , DiLullo NM , Fernandez TV , Fielding-Singh V , Fishman DO , Frahm S , Garagaloyan R , Goh GS , Kammela S , Klei L , Lowe JK , Lund SC , McGrew AD , Meyer KA , Moffat WJ , Murdoch JD , O'Roak BJ , Ober GT , Pottenger RS , Raubeson MJ , Song Y , Wang Q , Yaspan BL , Yu TW , Yurkiewicz IR , Beaudet AL , Cantor RM , Curland M , Grice DE , Günel M , Lifton RP , Mane SM , Martin DM , Shaw CA , Sheldon M , Tischfield JA , Walsh CA , Morrow EM , Ledbetter DH , Fombonne E , Lord C , Martin CL , Brooks AI , Sutcliffe JS , Cook EH Jr , Geschwind D , Roeder K , Devlin B , State MW
Published On :2011 Jun 9
Journal Article Research Support, Non-U.S. Gov't


Quantitative measurement of N-acetyl-aspartyl-glutamate at 3 T using TE-averaged PRESS spectroscopy and regularized lineshape deconvolution.

Authors :Zhang Y , Li S , Marenco S , Shen J
Published On :2011 Aug
Journal Article Research Support, N.I.H., Intramural


Biosynthetic chlorination of the piperazate residue in kutzneride biosynthesis by KthP.

Authors :Jiang W , Heemstra JR Jr , Forseth RR , Neumann CS , Manaviazar S , Schroeder FC , Hale KJ , Walsh CT
Published On :2011 Jul 12
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6.

Authors :Quiat D , Voelker KA , Pei J , Grishin NV , Grange RW , Bassel-Duby R , Olson EN
Published On :2011 Jun 21
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Progressive multifocal leukoencephalopathy (PML) development is associated with mutations in JC virus capsid protein VP1 that change its receptor specificity.

Authors :Gorelik L , Reid C , Testa M , Brickelmaier M , Bossolasco S , Pazzi A , Bestetti A , Carmillo P , Wilson E , McAuliffe M , Tonkin C , Carulli JP , Lugovskoy A , Lazzarin A , Sunyaev S , Simon K , Cinque P
Published On :2011 Jul 1
Journal Article Research Support, Non-U.S. Gov't


Acquired hemophilia: a rare but life-threatening potential cause of bleeding in the intensive care unit.

Authors :Shander A , Walsh CE , Cromwell C
Published On :2011 Aug
Journal Article Research Support, Non-U.S. Gov't Review


COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Authors :Labelle-Dumais C , Dilworth DJ , Harrington EP , de Leau M , Lyons D , Kabaeva Z , Manzini MC , Dobyns WB , Walsh CA , Michele DE , Gould DB
Published On :2011 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Postnatal left ventricular diastolic function after fetal aortic valvuloplasty.

Authors :Friedman KG , Margossian R , Graham DA , Harrild DM , Emani SM , Wilkins-Haug LE , McElhinney DB , Tworetzky W
Published On :2011 Aug 15
Comparative Study Journal Article


Surgical management of endocarditis: the society of thoracic surgeons clinical practice guideline.

Authors :Byrne JG , Rezai K , Sanchez JA , Bernstein RA , Okum E , Leacche M , Balaguer JM , Prabhakaran S , Bridges CR , Higgins RS
Published On :2011 Jun
Journal Article Practice Guideline


Initiation of proximal-distal patterning in the vertebrate limb by signals and growth.

Authors :Cooper KL , Hu JK , ten Berge D , Fernandez-Teran M , Ros MA , Tabin CJ
Published On :2011 May 27
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Efficacy and safety of adalimumab in Crohn's disease: meta-analysis of placebo-controlled trials.

Authors :Huang ML , Ran ZH , Shen J , Li XB , Xu XT , Xiao SD
Published On :2011 Jun
Journal Article Meta-Analysis Research Support, Non-U.S. Gov't


Identification of phenylalanine 3-hydroxylase for meta-tyrosine biosynthesis.

Authors :Zhang W , Ames BD , Walsh CT
Published On :2011 Jun 21
Journal Article Research Support, N.I.H., Extramural


[Pharmacokinetics of photosensitizer m-THPC in rat models of liver cancer via orthotropic implantation using Walker-256].

Authors :Wang JD , Quan ZW , Shen J , Zhou XP , Luo FH , Wang SY , Yan JH , Yang D
Published On :2011 Apr 1
English Abstract Journal Article Research Support, Non-U.S. Gov't


Modified bases enable high-efficiency oligonucleotide-mediated allelic replacement via mismatch repair evasion.

Authors :Wang HH , Xu G , Vonner AJ , Church G
Published On :2011 Sep 1
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


Transplanted neural stem cells promote nerve regeneration in acute peripheral nerve traction injury: assessment using MRI.

Authors :Cheng LN , Duan XH , Zhong XM , Guo RM , Zhang F , Zhou CP , Shen J
Published On :2011 Jun
Journal Article Research Support, Non-U.S. Gov't