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1
Genetics of Congenital Heart Disease: The Glass Half Empty
Genetics of Congenital Heart Disease: The Glass Half Empty
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Genetics of Congenital Heart Disease: The Glass Half Empty

Circulation research, 2013-02, Vol.112 (4), p.707-720 [Peer Reviewed Journal]

2013 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.112.300853 ;PMID: 23410880

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2
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Journal of medical genetics, 2019-10, Vol.56 (10), p.701-710 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105879 ;PMID: 31451536

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3
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management: A Scientific Statement From the American Heart Association
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management: A Scientific Statement From the American Heart Association
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Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management: A Scientific Statement From the American Heart Association

Circulation (New York, N.Y.), 2012-08, Vol.126 (9), p.1143-1172 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIR.0b013e318265ee8a ;PMID: 22851541 ;CODEN: CIRCAZ

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4
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

European journal of endocrinology, 2019-06, Vol.180 (6), p.397-406 [Peer Reviewed Journal]

2019 European Society of Endocrinology ;Copyright BioScientifica Ltd. Jun 2019 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/EJE-18-0878 ;PMID: 30991358

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5
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

Journal of medical genetics, 2015-03, Vol.52 (3), p.208-216 [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 ;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: 2015 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-2014-102819 ;PMID: 25635128 ;CODEN: JMDGAE

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6
The developmental biology of genetic Notch disorders
The developmental biology of genetic Notch disorders
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The developmental biology of genetic Notch disorders

Development (Cambridge), 2017-05, Vol.144 (10), p.1743-1763 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd May 15, 2017 ;ISSN: 0950-1991 ;ISSN: 1477-9129 ;EISSN: 1477-9129 ;DOI: 10.1242/dev.148007 ;PMID: 28512196

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7
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects
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Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects

Journal of medical genetics, 2023-07, Vol.60 (7), p.655-661 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2022-108506 ;PMID: 36446583

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8
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
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DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

European journal of endocrinology, 2018-12, Vol.179 (6), p.R297-R317 [Peer Reviewed Journal]

2018 European Society of Endocrinology ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/EJE-18-0383 ;PMID: 30324792

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9
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Circulation (New York, N.Y.), 2018-11, Vol.138 (21), p.e653-e711 [Peer Reviewed Journal]

2018 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIR.0000000000000606 ;PMID: 30571578

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10
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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11
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

Proceedings of the National Academy of Sciences - PNAS, 2011-02, Vol.108 (7), p.2915-2920 [Peer Reviewed Journal]

Copyright © 1993-2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences Feb 15, 2011 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1019645108 ;PMID: 21282601

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12
Trends in Congenital Heart Disease: The Next Decade
Trends in Congenital Heart Disease: The Next Decade
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Trends in Congenital Heart Disease: The Next Decade

Circulation (New York, N.Y.), 2016-06, Vol.133 (25), p.2716-2733 [Peer Reviewed Journal]

2016 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.116.023544 ;PMID: 27324366

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13
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
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Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Journal of medical genetics, 2022-03, Vol.59 (3), p.270-278 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107317 ;PMID: 33461977

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14
Genetic disorders in the Arab world
Genetic disorders in the Arab world
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Genetic disorders in the Arab world

BMJ, 2006-10, Vol.333 (7573), p.831-834 [Peer Reviewed Journal]

2006 BMJ Publishing Group Ltd. ;2006 BMJ Publishing Group Ltd ;Copyright: 2006 (c) 2006 BMJ Publishing Group Ltd. ;Copyright © 2006, BMJ Publishing Group Ltd. 2006 ;ISSN: 0959-8138 ;EISSN: 1468-5833 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.38982.704931.AE ;PMID: 17053236

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15
Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation
Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation
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Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation

Circulation research, 2017-03, Vol.120 (6), p.960-977 [Peer Reviewed Journal]

2017 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.116.309048 ;PMID: 28302742

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16
Brain in Congenital Heart Disease Across the Lifespan: The Cumulative Burden of Injury
Brain in Congenital Heart Disease Across the Lifespan: The Cumulative Burden of Injury
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Brain in Congenital Heart Disease Across the Lifespan: The Cumulative Burden of Injury

Circulation (New York, N.Y.), 2016-05, Vol.133 (20), p.1951-1962 [Peer Reviewed Journal]

2016 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;2016 American Heart Association, Inc. ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.115.019881 ;PMID: 27185022

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17
Chronic Heart Failure in Congenital Heart Disease: A Scientific Statement From the American Heart Association
Chronic Heart Failure in Congenital Heart Disease: A Scientific Statement From the American Heart Association
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Chronic Heart Failure in Congenital Heart Disease: A Scientific Statement From the American Heart Association

Circulation (New York, N.Y.), 2016-02, Vol.133 (8), p.770-801 [Peer Reviewed Journal]

ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIR.0000000000000352 ;PMID: 26787728

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18
FOXP1-related intellectual disability syndrome: a recognisable entity
FOXP1-related intellectual disability syndrome: a recognisable entity
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FOXP1-related intellectual disability syndrome: a recognisable entity

Journal of medical genetics, 2017-09, Vol.54 (9), p.613-623 [Peer Reviewed Journal]

Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;Copyright: 2017 © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2017-104579 ;PMID: 28735298

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19
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
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Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

Journal of Medical Genetics, 2016-02, Vol.53 (2), p.73-90 [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://www.bmj.com/company/products-services/rights-and-licensing ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2015-103366 ;PMID: 26502893 ;CODEN: JMDGAE

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20
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
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Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Journal of medical genetics, 2023-06, Vol.60 (6), p.523-532 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2022-108962 ;PMID: 36822643

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