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1017 Unusual clinical course of congenital central hypoventilation syndrome: is outgrowing the syndrome possible?
1017 Unusual clinical course of congenital central hypoventilation syndrome: is outgrowing the syndrome possible?
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1017 Unusual clinical course of congenital central hypoventilation syndrome: is outgrowing the syndrome possible?

Sleep (New York, N.Y.), 2019-04, Vol.42 (Supplement_1), p.A409-A410 [Peer Reviewed Journal]

Sleep Research Society 2019. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com. ;ISSN: 0161-8105 ;EISSN: 1550-9109 ;DOI: 10.1093/sleep/zsz069.1014

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2
BS26 The partnerships in congenital heart disease in africa study (PROTEA): clinical characteristics and genetic findings from a South African congenital heart disease cohort
BS26 The partnerships in congenital heart disease in africa study (PROTEA): clinical characteristics and genetic findings from a South African congenital heart disease cohort
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BS26 The partnerships in congenital heart disease in africa study (PROTEA): clinical characteristics and genetic findings from a South African congenital heart disease cohort

Heart (British Cardiac Society), 2021-06, Vol.107 (Suppl 1), p.A170-A171 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2021-BCS.224

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3
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

The Lancet (British edition), 2017-08, Vol.390 (10097), p.849-860 [Peer Reviewed Journal]

2017 Elsevier Ltd ;Copyright © 2017 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Aug 26, 2017 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(17)31868-8 ;PMID: 28712537

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4
Neutrophils as emerging therapeutic targets
Neutrophils as emerging therapeutic targets
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Neutrophils as emerging therapeutic targets

Nature reviews. Drug discovery, 2020-04, Vol.19 (4), p.253-275 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-1776 ;EISSN: 1474-1784 ;DOI: 10.1038/s41573-019-0054-z ;PMID: 31969717

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5
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

American journal of human genetics, 2017-02, Vol.100 (2), p.267-280 [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 Feb 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.2017.01.004 ;PMID: 28132688

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6
Muscular dystrophies
Muscular dystrophies
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Muscular dystrophies

The Lancet (British edition), 2019-11, Vol.394 (10213), p.2025-2038 [Peer Reviewed Journal]

2019 Elsevier Ltd ;Copyright © 2019 Elsevier Ltd. All rights reserved. ;2019. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(19)32910-1 ;PMID: 31789220

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7
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261 [Peer Reviewed Journal]

Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1909786

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8
Genetics and Genomics of Congenital Heart Disease
Genetics and Genomics of Congenital Heart Disease
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Genetics and Genomics of Congenital Heart Disease

Circulation research, 2017-03, Vol.120 (6), p.923-940 [Peer Reviewed Journal]

2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309140 ;PMID: 28302740

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9
Molecular findings from 537 individuals with inherited retinal disease
Molecular findings from 537 individuals with inherited retinal disease
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Molecular findings from 537 individuals with inherited retinal disease

Journal of medical genetics, 2016-11, Vol.53 (11), p.761-767 [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 ;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 ;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/ 2016 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2016-103837 ;PMID: 27208204 ;CODEN: JMDGAE

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10
Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus
Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus
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Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus

Neurosurgery, 2020-12, Vol.67 (Supplement_1) [Peer Reviewed Journal]

Copyright © 2020 by the Congress of Neurological Surgeons 2020 ;Copyright © 2020 by the Congress of Neurological Surgeons ;ISSN: 0148-396X ;EISSN: 1524-4040 ;DOI: 10.1093/neuros/nyaa447_572

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11
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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12
108. ADDITIONAL PATHOGENIC IRF6 MUTATIONS IN VAN DER WOUDE SYNDROME FROM SUB-SAHARAN AFRICAN POPULATIONS
108. ADDITIONAL PATHOGENIC IRF6 MUTATIONS IN VAN DER WOUDE SYNDROME FROM SUB-SAHARAN AFRICAN POPULATIONS
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108. ADDITIONAL PATHOGENIC IRF6 MUTATIONS IN VAN DER WOUDE SYNDROME FROM SUB-SAHARAN AFRICAN POPULATIONS

The Cleft palate-craniofacial journal, 2016-07, Vol.53 (4), p.E127 [Peer Reviewed Journal]

Copyright Allen Press Publishing Services Jul 2016 ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;CODEN: CPJOEG

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13
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
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SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Neuron (Cambridge, Mass.), 2018-02, Vol.97 (3), p.488-493 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 7, 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.01.015 ;PMID: 29420931

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14
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Science (American Association for the Advancement of Science), 2015-12, Vol.350 (6265), p.1262-1266 [Peer Reviewed Journal]

Copyright © 2015 American Association for the Advancement of Science ;Copyright © 2015, American Association for the Advancement of Science. ;Copyright © 2015, American Association for the Advancement of Science ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aac9396 ;PMID: 26785492 ;CODEN: SCIEAS

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15
A map of constrained coding regions in the human genome
A map of constrained coding regions in the human genome
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A map of constrained coding regions in the human genome

Nature genetics, 2019-01, Vol.51 (1), p.88-95 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0294-6 ;PMID: 30531870

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16
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 ;Copyright Nature Publishing Group Jan 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3720 ;PMID: 27841880

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17
Placentation defects are highly prevalent in embryonic lethal mouse mutants
Placentation defects are highly prevalent in embryonic lethal mouse mutants
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Placentation defects are highly prevalent in embryonic lethal mouse mutants

Nature (London), 2018-03, Vol.555 (7697), p.463-468 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 22, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature26002 ;PMID: 29539633

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18
Adrenal insufficiency
Adrenal insufficiency
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Adrenal insufficiency

The Lancet (British edition), 2021-02, Vol.397 (10274), p.613-629 [Peer Reviewed Journal]

2021 Elsevier Ltd ;Copyright © 2021 Elsevier Ltd. All rights reserved. ;2021. Elsevier Ltd ;ISSN: 0140-6736 ;ISSN: 1474-547X ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(21)00136-7 ;PMID: 33484633

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19
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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20
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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