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1
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
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Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

American journal of human genetics, 2017-03, Vol.100 (3), p.546-554 [Peer Reviewed Journal]

2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.018 ;PMID: 28190454

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2
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

American journal of human genetics, 2015-12, Vol.97 (6), p.894-903 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Dec 3, 2015 ;2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.11.003 ;PMID: 26637979

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3
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

American journal of human genetics, 2017-03, Vol.100 (3), p.454-472 [Peer Reviewed Journal]

2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.030 ;PMID: 28215400

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4
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
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Mutations in NOTCH1 Cause Adams-Oliver Syndrome

American journal of human genetics, 2014-09, Vol.95 (3), p.275-284 [Peer Reviewed Journal]

2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 4, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.07.011 ;PMID: 25132448

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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
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

American journal of human genetics, 2014-07, Vol.95 (1), p.96-107 [Peer Reviewed Journal]

2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 3, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.05.007 ;PMID: 24931394

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7
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 4, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.02.013 ;PMID: 23541340

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8
Mutations in WNT1 Cause Different Forms of Bone Fragility
Mutations in WNT1 Cause Different Forms of Bone Fragility
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Mutations in WNT1 Cause Different Forms of Bone Fragility

American journal of human genetics, 2013-04, Vol.92 (4), p.565-574 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 4, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.02.010 ;PMID: 23499309

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9
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American journal of human genetics, 2014-04, Vol.94 (4), p.574-585 [Peer Reviewed Journal]

2014 The Authors ;Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 3, 2014 ;2014 The Authors 2014 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.03.007 ;PMID: 24702954

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10
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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11
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.498-506 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 5, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.01.017 ;PMID: 25728775

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12
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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13
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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14
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

American journal of human genetics, 2016-02, Vol.98 (2), p.373-381 [Peer Reviewed Journal]

2016 The American Society of Human Genetics ;Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 4, 2016 ;2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.12.015 ;PMID: 26833328

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15
CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

American journal of human genetics, 2015-01, Vol.96 (1), p.121-135 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 8, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.12.003 ;PMID: 25574826

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16
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

American journal of human genetics, 2016-01, Vol.98 (1), p.75-89 [Peer Reviewed Journal]

2016 The Authors ;Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 7, 2016 ;2016 The Authors 2016 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.11.018 ;PMID: 26749309

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17
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2012-07, Vol.91 (1), p.15-26 [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 Jul 13, 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.2012.05.002 ;PMID: 22683087 ;CODEN: AJHGAG

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18
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

American journal of human genetics, 2015-10, Vol.97 (4), p.546-554 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Oct 1, 2015 ;2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.08.012 ;PMID: 26387594

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19
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
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Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

American journal of human genetics, 2017-01, Vol.100 (1), p.169-178 [Peer Reviewed Journal]

2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 5, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.11.017 ;PMID: 28017374

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20
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.598-604 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 4, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.02.012 ;PMID: 23522784

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