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1
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal]

2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAG

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2
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

The New England journal of medicine, 2013-05, Vol.368 (21), p.1971-1979 [Peer Reviewed Journal]

Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1213507 ;PMID: 23656586 ;CODEN: NEJMAG

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3
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

JNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1607-1616 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Nov 6, 2013 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djt277 ;PMID: 24136893 ;CODEN: JNCIEQ

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4
Shining a Light on Xeroderma Pigmentosum
Shining a Light on Xeroderma Pigmentosum
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Shining a Light on Xeroderma Pigmentosum

Journal of investigative dermatology, 2012-03, Vol.132 (3), p.785-796 [Peer Reviewed Journal]

2012 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2012 ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2011.426 ;PMID: 22217736 ;CODEN: JIDEAE

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5
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
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Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

American journal of human genetics, 2012-06, Vol.90 (6), p.1108-1115 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 8, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.05.006 ;PMID: 22658544 ;CODEN: AJHGAG

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6
Developmental neuroplasticity after cochlear implantation
Developmental neuroplasticity after cochlear implantation
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Developmental neuroplasticity after cochlear implantation

Trends in neurosciences (Regular ed.), 2012-02, Vol.35 (2), p.111 [Peer Reviewed Journal]

Copyright © 2011. Published by Elsevier Ltd. ;EISSN: 1878-108X ;DOI: 10.1016/j.tins.2011.09.004 ;PMID: 22104561

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7
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
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Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

American journal of human genetics, 2012-12, Vol.91 (6), p.987-997 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2014 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Dec 7, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.10.007 ;PMID: 23159250 ;CODEN: AJHGAG

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8
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
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Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

American journal of human genetics, 2012-02, Vol.90 (2), p.175-200 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 10, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.12.017 ;PMID: 22325359 ;CODEN: AJHGAG

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9
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

American journal of human genetics, 2011-05, Vol.88 (5), p.574-585 [Peer Reviewed Journal]

2011 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 13, 2011 ;2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.04.013 ;PMID: 21565291 ;CODEN: AJHGAG

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10
Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in Newborns
Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in Newborns
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Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in Newborns

The New England journal of medicine, 2011-06, Vol.364 (22), p.2111-2118 [Peer Reviewed Journal]

Copyright © 2011 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2011 Massachusetts Medical Society. 2011 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1006561 ;PMID: 21631323 ;CODEN: NEJMAG

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11
Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004
Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004
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Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004

Clinical infectious diseases, 2010-06, Vol.50 (11), p.1439-1447 [Peer Reviewed Journal]

2010 Infectious Diseases Society of America ;2010 Infectious Diseases Society of America 2010 ;2015 INIST-CNRS ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/652438 ;PMID: 20426575 ;CODEN: CIDIEL

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12
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

American journal of human genetics, 2012-09, Vol.91 (3), p.489-501 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 7, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.08.003 ;PMID: 22939634 ;CODEN: AJHGAG

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13
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

American journal of human genetics, 2012-03, Vol.90 (3), p.558-564 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 9, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.02.006 ;PMID: 22405088 ;CODEN: AJHGAG

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14
Inactivating mutations of acetyltransferase genes in B-cell lymphoma
Inactivating mutations of acetyltransferase genes in B-cell lymphoma
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Inactivating mutations of acetyltransferase genes in B-cell lymphoma

Nature (London), 2011-03, Vol.471 (7337), p.189-195 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Mar 10, 2011 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09730 ;PMID: 21390126 ;CODEN: NATUAS

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15
Integrin α3 Mutations with Kidney, Lung, and Skin Disease
Integrin α3 Mutations with Kidney, Lung, and Skin Disease
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Integrin α3 Mutations with Kidney, Lung, and Skin Disease

The New England journal of medicine, 2012-04, Vol.366 (16), p.1508-1514 [Peer Reviewed Journal]

Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2012 Massachusetts Medical Society. 2012 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1110813 ;PMID: 22512483 ;CODEN: NEJMAG

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16
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output
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Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output

JAMA : the journal of the American Medical Association, 2012-03, Vol.307 (9), p.948 [Peer Reviewed Journal]

EISSN: 1538-3598 ;DOI: 10.1001/jama.2012.250 ;PMID: 22396517

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17
Circadian rhythms govern cardiac repolarization and arrhythmogenesis
Circadian rhythms govern cardiac repolarization and arrhythmogenesis
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Circadian rhythms govern cardiac repolarization and arrhythmogenesis

Nature (London), 2012-02, Vol.483 (7387), p.96-99 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 1, 2012 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature10852 ;PMID: 22367544 ;CODEN: NATUAS

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18
An SCN9A channelopathy causes congenital inability to experience pain
An SCN9A channelopathy causes congenital inability to experience pain
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An SCN9A channelopathy causes congenital inability to experience pain

Nature, 2006-12, Vol.444 (7121), p.894-898 [Peer Reviewed Journal]

2007 INIST-CNRS ;COPYRIGHT 2006 Nature Publishing Group ;COPYRIGHT 2006 Nature Publishing Group ;Copyright Nature Publishing Group Dec 14, 2006 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature05413 ;PMID: 17167479 ;CODEN: NATUAS

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19
Rare Variants in TP53 and Susceptibility to Neuroblastoma
Rare Variants in TP53 and Susceptibility to Neuroblastoma
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Rare Variants in TP53 and Susceptibility to Neuroblastoma

JNCI : Journal of the National Cancer Institute, 2014-04, Vol.106 (4), p.dju047-dju047 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Apr 2014 ;The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com. 2014 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/dju047 ;PMID: 24634504 ;CODEN: JNCIEQ

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20
Abnormal Brain Development in Newborns with Congenital Heart Disease
Abnormal Brain Development in Newborns with Congenital Heart Disease
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Abnormal Brain Development in Newborns with Congenital Heart Disease

The New England journal of medicine, 2007-11, Vol.357 (19), p.1928-1938 [Peer Reviewed Journal]

Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;2007 INIST-CNRS ;Copyright 2007 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa067393 ;PMID: 17989385 ;CODEN: NEJMAG

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