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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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Title: Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Authors: Talkowski ME; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA., Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH
Source: American journal of human genetics [Am J Hum Genet] 2011 Oct 07; Vol. 89 (4), pp. 551-63.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
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  Data: <searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink><br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink><br /><searchLink fieldCode="AU" term="%22van+Bon+BW%22">van Bon BW</searchLink><br /><searchLink fieldCode="AU" term="%22Shen+Y%22">Shen Y</searchLink><br /><searchLink fieldCode="AU" term="%22Repnikova+EA%22">Repnikova EA</searchLink><br /><searchLink fieldCode="AU" term="%22Gastier-Foster+J%22">Gastier-Foster J</searchLink><br /><searchLink fieldCode="AU" term="%22Thrush+DL%22">Thrush DL</searchLink><br /><searchLink fieldCode="AU" term="%22Kathiresan+S%22">Kathiresan S</searchLink><br /><searchLink fieldCode="AU" term="%22Ruderfer+DM%22">Ruderfer DM</searchLink><br /><searchLink fieldCode="AU" term="%22Chiang+C%22">Chiang C</searchLink><br /><searchLink fieldCode="AU" term="%22Hanscom+C%22">Hanscom C</searchLink><br /><searchLink fieldCode="AU" term="%22Ernst+C%22">Ernst C</searchLink><br /><searchLink fieldCode="AU" term="%22Lindgren+AM%22">Lindgren AM</searchLink><br /><searchLink fieldCode="AU" term="%22Morton+CC%22">Morton CC</searchLink><br /><searchLink fieldCode="AU" term="%22An+Y%22">An Y</searchLink><br /><searchLink fieldCode="AU" term="%22Astbury+C%22">Astbury C</searchLink><br /><searchLink fieldCode="AU" term="%22Brueton+LA%22">Brueton LA</searchLink><br /><searchLink fieldCode="AU" term="%22Lichtenbelt+KD%22">Lichtenbelt KD</searchLink><br /><searchLink fieldCode="AU" term="%22Ades+LC%22">Ades LC</searchLink><br /><searchLink fieldCode="AU" term="%22Fichera+M%22">Fichera M</searchLink><br /><searchLink fieldCode="AU" term="%22Romano+C%22">Romano C</searchLink><br /><searchLink fieldCode="AU" term="%22Innis+JW%22">Innis JW</searchLink><br /><searchLink fieldCode="AU" term="%22Williams+CA%22">Williams CA</searchLink><br /><searchLink fieldCode="AU" term="%22Bartholomew+D%22">Bartholomew D</searchLink><br /><searchLink fieldCode="AU" term="%22Van+Allen+MI%22">Van Allen MI</searchLink><br /><searchLink fieldCode="AU" term="%22Parikh+A%22">Parikh A</searchLink><br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink><br /><searchLink fieldCode="AU" term="%22Wu+BL%22">Wu BL</searchLink><br /><searchLink fieldCode="AU" term="%22Pyatt+RE%22">Pyatt RE</searchLink><br /><searchLink fieldCode="AU" term="%22Schwartz+S%22">Schwartz S</searchLink><br /><searchLink fieldCode="AU" term="%22Shaffer+LG%22">Shaffer LG</searchLink><br /><searchLink fieldCode="AU" term="%22de+Vries+BB%22">de Vries BB</searchLink><br /><searchLink fieldCode="AU" term="%22Gusella+JF%22">Gusella JF</searchLink><br /><searchLink fieldCode="AU" term="%22Elsea+SH%22">Elsea SH</searchLink>
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2011 Oct 07; Vol. 89 (4), pp. 551-63.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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