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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Targeted long-read sequencing identifies missing disease-causing variationAmerican journal of human genetics, 2021-08, Vol.108 (8), p.1436-1449 [Peer Reviewed Journal]2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.06.006 ;PMID: 34216551Full text available |
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayAmerican journal of human genetics, 2019-02, Vol.104 (2), p.213-228 [Peer Reviewed Journal]2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.12.010 ;PMID: 30639323Full text available |
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Technical report: Ethical and policy issues in genetic testing and screening of childrenGenetics in medicine, 2013-03, Vol.15 (3), p.234-245 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2013. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2012.176 ;PMID: 23429433Full text available |
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresAmerican journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240 [Peer Reviewed Journal]2024 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2024.05.004 ;PMID: 38749428Full text available |
| 5 |
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresAmerican journal of human genetics, 2024-04, Vol.111 (4), p.778-790 [Peer Reviewed Journal]2024 American Society of Human Genetics ;Copyright © 2024 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2024.02.016 ;PMID: 38531365Full text available |
| 6 |
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Alcohol Intervention for Adolescents with Fetal Alcohol Spectrum Disorders: Project Step Up, a Treatment Development StudyAlcoholism, clinical and experimental research, 2016-08, Vol.40 (8), p.1744-1751 [Peer Reviewed Journal]Copyright © 2016 by the Research Society on Alcoholism ;Copyright © 2016 by the Research Society on Alcoholism. ;2016 Research Society on Alcoholism ;ISSN: 0145-6008 ;EISSN: 1530-0277 ;DOI: 10.1111/acer.13111 ;PMID: 27219498 ;CODEN: ACRSDMFull text available |
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Health supervision for children with Marfan syndromePediatrics (Evanston), 2013-10, Vol.132 (4), p.e1059-e1072 [Peer Reviewed Journal]Copyright American Academy of Pediatrics Oct 2013 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2013-2063 ;PMID: 24081994 ;CODEN: PEDIAUFull text available |
| 8 |
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Validation of candidate causal genes for obesity that affect shared metabolic pathways and networksNature genetics, 2009-04, Vol.41 (4), p.415-423 [Peer Reviewed Journal]2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2009 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.325 ;PMID: 19270708 ;CODEN: NGENECFull text available |
| 9 |
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Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position EffectAmerican journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1167-1172 [Peer Reviewed Journal]Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35847 ;PMID: 23532965Full text available |
| 10 |
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Modeling craniofacial and skeletal congenital birth defects to advance therapiesHuman molecular genetics, 2016-10, Vol.25 (R2), p.R86-R93 [Peer Reviewed Journal]The Author (2016). Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. ;The Author (2016). Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com 2016 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddw171 ;PMID: 27346519Full text available |
| 11 |
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Disruption of glycerol metabolism by RNAi targeting of genes encoding glycerol kinase results in a range of phenotype severity in DrosophilaPloS one, 2013-09, Vol.8 (9), p.e71664-e71664 [Peer Reviewed Journal]COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Wightman et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2013 Wightman et al 2013 Wightman et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0071664 ;PMID: 24039719Full text available |
| 12 |
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Parameters of Care for CraniosynostosisThe Cleft palate-craniofacial journal, 2012-01, Vol.49 (1_suppl), p.1-24 [Peer Reviewed Journal]2012 American Cleft Palate-Craniofacial Association. All rights reserved ;2015 INIST-CNRS ;Copyright Allen Press Publishing Services Jan 2012 ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;DOI: 10.1597/11-138 ;PMID: 21848431 ;CODEN: CPJOEGFull text available |
| 13 |
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Single-Gene Disorders: What Role Could Moonlighting Enzymes Play?American journal of human genetics, 2005-06, Vol.76 (6), p.911-924 [Peer Reviewed Journal]2005 The American Society of Human Genetics ;2005 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jun 2005 ;2005 by The American Society of Human Genetics. All rights reserved. 2005 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/430799 ;PMID: 15877277 ;CODEN: AJHGAGFull text available |
| 14 |
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Genetic Screening in Patients with Craniofacial MalformationsJournal of pediatric genetics (Birmingham, Ala.), 2016-12, Vol.5 (4), p.220-224 [Peer Reviewed Journal]Thieme Medical Publishers ;ISSN: 2146-4596 ;EISSN: 2146-460X ;DOI: 10.1055/s-0036-1592423 ;PMID: 27895974Full text available |
| 15 |
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Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genesPloS one, 2012-03, Vol.7 (3), p.e31779-e31779 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;2012 Wightman et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Wightman et al. 2012 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0031779 ;PMID: 22427807Full text available |
| 16 |
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Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndromeAmerican journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3076-3082 [Peer Reviewed Journal]2014 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36767 ;PMID: 25256560Full text available |
| 17 |
Material Type: Article
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P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s HospitalGenetics in Medicine Open, 2024-01, Vol.2, p.101386 [Peer Reviewed Journal]EISSN: 2949-7744 ;DOI: 10.1016/j.gimo.2024.101386Digital Resources/Online E-Resources |
| 18 |
Material Type: Article
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P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yieldGenetics in Medicine Open, 2024-01, Vol.2, p.101090 [Peer Reviewed Journal]EISSN: 2949-7744 ;DOI: 10.1016/j.gimo.2024.101090Digital Resources/Online E-Resources |
| 19 |
Material Type: Article
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Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndromeMolecular genetics and metabolism reports, 2020-06, Vol.23, p.100582-100582, Article 100582 [Peer Reviewed Journal]2020 ;ISSN: 2214-4269 ;EISSN: 2214-4269 ;DOI: 10.1016/j.ymgmr.2020.100582 ;PMID: 32280589Full text available |
| 20 |
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P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differencesGenetics in Medicine Open, 2024-01, Vol.2, p.101111 [Peer Reviewed Journal]EISSN: 2949-7744 ;DOI: 10.1016/j.gimo.2024.101111Digital Resources/Online E-Resources |
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