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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
The global burden of congenital toxoplasmosis: a systematic review
The global burden of congenital toxoplasmosis: a systematic review
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The global burden of congenital toxoplasmosis: a systematic review

Bulletin of the World Health Organization, 2013-07, Vol.91 (7), p.501-508 [Peer Reviewed Journal]

2014 INIST-CNRS ;Copyright World Health Organization Jul 2013 ;(c) World Health Organization (WHO) 2013. All rights reserved. 2013 ;ISSN: 0042-9686 ;EISSN: 1564-0604 ;DOI: 10.2471/blt.12.111732 ;PMID: 23825877 ;CODEN: BWHOA6

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6
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
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Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

Journal of medical genetics, 2008-10, Vol.45 (10), p.609-621 [Peer Reviewed Journal]

2008 BMJ Publishing Group ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2008.058743 ;PMID: 18603627 ;CODEN: JMDGAE

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7
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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8
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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9
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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10
Modern Age Pathology of Pulmonary Arterial Hypertension
Modern Age Pathology of Pulmonary Arterial Hypertension
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Modern Age Pathology of Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2012-08, Vol.186 (3), p.261-272 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright American Thoracic Society Aug 1, 2012 ;Copyright © 2012 by the American Thoracic Society 2012 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.201201-0164OC ;PMID: 22679007

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11
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

The New England journal of medicine, 2014-02, Vol.370 (6), p.533-542 [Peer Reviewed Journal]

Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2014 Massachusetts Medical Society. 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1206605 ;PMID: 24499211 ;CODEN: NEJMAG

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12
An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy
An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy
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An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

American journal of respiratory and critical care medicine, 2013-08, Vol.188 (3), p.376-394 [Peer Reviewed Journal]

2014 INIST-CNRS ;Copyright American Thoracic Society Aug 1, 2013 ;Copyright © 2013 by the American Thoracic Society 2013 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.201305-0923st ;PMID: 23905526

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13
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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14
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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15
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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16
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 ;Copyright University of Chicago, acting through its Press Jun 1, 2010 ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/652438 ;PMID: 20426575 ;CODEN: CIDIEL

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17
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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18
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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19
Untreated maternal syphilis and adverse outcomes of pregnancy: a systematic review and meta-analysis
Untreated maternal syphilis and adverse outcomes of pregnancy: a systematic review and meta-analysis
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Untreated maternal syphilis and adverse outcomes of pregnancy: a systematic review and meta-analysis

Bulletin of the World Health Organization, 2013-03, Vol.91 (3), p.217-226 [Peer Reviewed Journal]

2014 INIST-CNRS ;Copyright World Health Organization Mar 2013 ;(c) World Health Organization (WHO) 2013. All rights reserved. 2013 ;This work is licensed under a Creative Commons Attribution 3.0 International License. ;ISSN: 0042-9686 ;EISSN: 1564-0604 ;DOI: 10.2471/blt.12.107623 ;PMID: 23476094 ;CODEN: BWHOA6

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20
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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