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1
The developmental genetics of congenital heart disease
The developmental genetics of congenital heart disease
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The developmental genetics of congenital heart disease

Nature, 2008-02, Vol.451 (7181), p.943-948 [Peer Reviewed Journal]

COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Feb 21, 2008 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature06801 ;PMID: 18288184 ;CODEN: NATUAS

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2
Increased prevalence of inattention-related symptoms in a large cohort of patients with congenital heart disease
Increased prevalence of inattention-related symptoms in a large cohort of patients with congenital heart disease
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Increased prevalence of inattention-related symptoms in a large cohort of patients with congenital heart disease

European child & adolescent psychiatry, 2021-04, Vol.30 (4), p.647-655 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2020 ;COPYRIGHT 2021 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2020. ;ISSN: 1018-8827 ;EISSN: 1435-165X ;DOI: 10.1007/s00787-020-01547-y ;PMID: 32394091

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3
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet (British edition), 2019-02, Vol.393 (10173), p.747-757 [Peer Reviewed Journal]

2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license ;Copyright © 2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved. ;2019. The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. ;2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license 2019 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(18)31940-8 ;PMID: 30712880

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4
The Unrecognized Mortality Burden of Genetic Disorders in Infancy
The Unrecognized Mortality Burden of Genetic Disorders in Infancy
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The Unrecognized Mortality Burden of Genetic Disorders in Infancy

American journal of public health (1971), 2021-07, Vol.111, p.S156-S162 [Peer Reviewed Journal]

Copyright American Public Health Association Jul 2021 ;ISSN: 0090-0036 ;EISSN: 1541-0048 ;DOI: 10.2105/AJPH.2021.306275)

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5
Neurosurgery in a child with cyanotic congenital heart disease (CCHD): Is cardiac grid formulation the panacea?
Neurosurgery in a child with cyanotic congenital heart disease (CCHD): Is cardiac grid formulation the panacea?
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Neurosurgery in a child with cyanotic congenital heart disease (CCHD): Is cardiac grid formulation the panacea?

Journal of pediatric neurosciences, 2021-07, Vol.16 (3), p.250-254 [Peer Reviewed Journal]

COPYRIGHT 2021 Medknow Publications and Media Pvt. Ltd. ;2021. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright: © 2022 Journal of Pediatric Neurosciences 2022 ;ISSN: 1817-1745 ;EISSN: 1998-3948 ;DOI: 10.4103/jpn.JPN_82_20

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6
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
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Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

The New England journal of medicine, 2014-04, Vol.370 (17), p.1615-1625 [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/NEJMoa1302846 ;PMID: 24716661 ;CODEN: NEJMAG

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7
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management
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Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

American journal of speech-language pathology, 2019-08, Vol.28 (3), p.984-999 [Peer Reviewed Journal]

COPYRIGHT 2019 American Speech-Language-Hearing Association ;COPYRIGHT 2019 American Speech-Language-Hearing Association ;Copyright American Speech-Language-Hearing Association Aug 2019 ;Copyright © 2019 The Authors ;ISSN: 1058-0360 ;ISSN: 1558-9110 ;EISSN: 1558-9110 ;DOI: 10.1044/2019_AJSLP-16-0147 ;PMID: 31330115

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8
The emergence of Zika virus and its new clinical syndromes
The emergence of Zika virus and its new clinical syndromes
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The emergence of Zika virus and its new clinical syndromes

Nature (London), 2018-08, Vol.560 (7720), p.573-581 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Aug 30, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0446-y ;PMID: 30158602

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9
P25 The national congenital anomaly and rare disease registration service (NCARDRS): data profile, its application and development towards administrative data linkage in England
P25 The national congenital anomaly and rare disease registration service (NCARDRS): data profile, its application and development towards administrative data linkage in England
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P25 The national congenital anomaly and rare disease registration service (NCARDRS): data profile, its application and development towards administrative data linkage in England

Journal of epidemiology and community health (1979), 2023-08, Vol.77 (Suppl 1), p.A65-A66 [Peer Reviewed Journal]

2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0143-005X ;EISSN: 1470-2738 ;DOI: 10.1136/jech-2023-SSMabstracts.132

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10
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Journal of autism and developmental disorders, 2023-02, Vol.53 (2), p.615-623 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021 ;2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature. ;COPYRIGHT 2023 Springer ;The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021. ;ISSN: 0162-3257 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-020-04833-5 ;PMID: 33394245

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11
Winner of 2023 Wakley–Wu Lien Teh Prize: are congenital diseases a curse?
Winner of 2023 Wakley–Wu Lien Teh Prize: are congenital diseases a curse?
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Winner of 2023 Wakley–Wu Lien Teh Prize: are congenital diseases a curse?

The Lancet (British edition), 2024-02, Vol.403 (10425), p.419-419 [Peer Reviewed Journal]

2024 Elsevier Ltd ;2024. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(24)00130-2 ;PMID: 38309771

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12
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
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Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Journal of neurodevelopmental disorders, 2023-03, Vol.15 (1), p.9-9, Article 9 [Peer Reviewed Journal]

2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1866-1955 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-023-09478-w ;PMID: 36864370

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13
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
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Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects

Journal of neurodevelopmental disorders, 2023-05, Vol.15 (1), p.15-15, Article 15 [Peer Reviewed Journal]

2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1866-1955 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-023-09484-y ;PMID: 37173621

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14
De novo mutations in histone-modifying genes in congenital heart disease
De novo mutations in histone-modifying genes in congenital heart disease
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De novo mutations in histone-modifying genes in congenital heart disease

Nature (London), 2013-06, Vol.498 (7453), p.220-223 [Peer Reviewed Journal]

COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Jun 13, 2013 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature12141 ;PMID: 23665959 ;CODEN: NATUAS

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15
What hinders congenital ectopia lentis patients’ follow-up visits? A qualitative study
What hinders congenital ectopia lentis patients’ follow-up visits? A qualitative study
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What hinders congenital ectopia lentis patients’ follow-up visits? A qualitative study

BMJ open, 2020-03, Vol.10 (3), p.e030434-e030434 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. 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)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2019-030434 ;PMID: 32169922

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16
Targeting molecular pathways for the treatment of inherited retinal degeneration
Targeting molecular pathways for the treatment of inherited retinal degeneration
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Targeting molecular pathways for the treatment of inherited retinal degeneration

Neural regeneration research, 2020-10, Vol.15 (10), p.1784-1791 [Peer Reviewed Journal]

COPYRIGHT 2020 Medknow Publications and Media Pvt. Ltd. ;2020. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright © Wanfang Data Co. Ltd. All Rights Reserved. ;Copyright: © 2020 Neural Regeneration Research 2020 ;ISSN: 1673-5374 ;EISSN: 1876-7958 ;DOI: 10.4103/1673-5374.280303 ;PMID: 32246618

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17
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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18
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

The New England journal of medicine, 2021-06, Vol.384 (22), p.2159-2161 [Peer Reviewed Journal]

Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMc2100365 ;PMID: 34077649

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19
The Perception of Lexical Tone and Intonation in Whispered Speech by Mandarin-Speaking Congenital Amusics
The Perception of Lexical Tone and Intonation in Whispered Speech by Mandarin-Speaking Congenital Amusics
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The Perception of Lexical Tone and Intonation in Whispered Speech by Mandarin-Speaking Congenital Amusics

Journal of speech, language, and hearing research, 2022-04, Vol.65 (4), p.1331-1348 [Peer Reviewed Journal]

COPYRIGHT 2022 American Speech-Language-Hearing Association ;Copyright American Speech-Language-Hearing Association Apr 2022 ;ISSN: 1092-4388 ;EISSN: 1558-9102 ;DOI: 10.1044/2021_JSLHR-21-00345 ;PMID: 35377182

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20
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases
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Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases

Nature, 2008-11, Vol.456 (7218), p.107-111 [Peer Reviewed Journal]

2008 INIST-CNRS ;COPYRIGHT 2008 Nature Publishing Group ;COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Nov 6, 2008 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature07343 ;PMID: 18987743 ;CODEN: NATUAS

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