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1
Pulmonary Arterial Hypertension
Pulmonary Arterial Hypertension
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Pulmonary Arterial Hypertension

The New England journal of medicine, 2021-12, Vol.385 (25), p.2361-2376 [Peer Reviewed Journal]

Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;COPYRIGHT 2021 Massachusetts Medical Society ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2000348 ;PMID: 34910865

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2
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Nature genetics, 2017-01, Vol.49 (1), p.36-45 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3720 ;PMID: 27841880

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3
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
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Congenital adrenal hyperplasia

The Lancet (British edition), 2017-11, Vol.390 (10108), p.2194-2210 [Peer Reviewed Journal]

Elsevier Ltd ;2017 Elsevier Ltd ;Copyright © 2017 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Nov 11, 2017 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(17)31431-9 ;PMID: 28576284

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4
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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5
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257

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6
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway
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The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

Endocrine reviews, 2018-10, Vol.39 (5), p.676-700 [Peer Reviewed Journal]

Copyright © 2018 Endocrine Society 2018 ;Copyright © Oxford University Press 2015 ;COPYRIGHT 2018 Oxford University Press ;Copyright © 2018 Endocrine Society ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2017-00232 ;PMID: 29924299

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7
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease

Nature (London), 2015-05, Vol.521 (7553), p.520-524 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14269 ;PMID: 25807483 ;CODEN: NATUAS

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8
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nature genetics, 2016-09, Vol.48 (9), p.1060-1065 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3627 ;PMID: 27479907

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9
A roadmap for the Human Developmental Cell Atlas
A roadmap for the Human Developmental Cell Atlas
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A roadmap for the Human Developmental Cell Atlas

Nature (London), 2021-09, Vol.597 (7875), p.196-205 [Peer Reviewed Journal]

2021. Springer Nature Limited. ;Copyright Nature Publishing Group Sep 9, 2021 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-021-03620-1 ;PMID: 34497388

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10
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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11
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
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The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Nature genetics, 2019-01, Vol.51 (1), p.117-127 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0281-y ;PMID: 30578417

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12
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Journal of medical genetics, 2014-03, Vol.51 (3), p.152-158 [Peer Reviewed Journal]

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Copyright: 2014 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2013-102113 ;PMID: 24399845 ;CODEN: JMDGAE

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13
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

The Journal of clinical investigation, 2018-04, Vol.128 (4), p.1496-1508 [Peer Reviewed Journal]

COPYRIGHT 2018 American Society for Clinical Investigation ;COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Apr 2018 ;Copyright © 2018 Al-Olabi et al. 2018 Al-Olabi et al. ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci98589 ;PMID: 29461977

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14
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Genome Biology, 2016-11, Vol.17 (1), p.243-243, Article 243 [Peer Reviewed Journal]

2016. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2016 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-016-1105-y ;PMID: 27899157

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15
The complex genetics of hypoplastic left heart syndrome
The complex genetics of hypoplastic left heart syndrome
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The complex genetics of hypoplastic left heart syndrome

Nature genetics, 2017-07, Vol.49 (7), p.1152-1159 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3870 ;PMID: 28530678

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16
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Nature medicine, 2020-11, Vol.26 (11), p.1754-1765 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/s41591-020-1090-2 ;PMID: 33077954

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17
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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18
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

The New England journal of medicine, 2015-01, Vol.372 (4), p.341-350 [Peer Reviewed Journal]

Copyright © 2015 Massachusetts Medical Society. All rights reserved. ;Copyright © 2015 Massachusetts Medical Society. All rights reserved 2015 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1406829 ;PMID: 25564734

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19
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
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NAD Deficiency, Congenital Malformations, and Niacin Supplementation

The New England journal of medicine, 2017-08, Vol.377 (6), p.544-552 [Peer Reviewed Journal]

Copyright © 2017 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1616361 ;PMID: 28792876

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20
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Neuron (Cambridge, Mass.), 2018-07, Vol.99 (2), p.302-314.e4 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;2018. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.06.019 ;PMID: 29983323

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