P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423005836 |
| _version_ | 1797341944537415680 |
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| author | Lucilla Pizzo Zoe Lewis Lauren Walsh Cassandra Runke Margit Nõukas Katrin Männik Neeme Tõnisson Erik Thorland Christa Martin Katie Rudd Erica Andersen |
| author_facet | Lucilla Pizzo Zoe Lewis Lauren Walsh Cassandra Runke Margit Nõukas Katrin Männik Neeme Tõnisson Erik Thorland Christa Martin Katie Rudd Erica Andersen |
| author_sort | Lucilla Pizzo |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:18Z |
| format | Article |
| id | doaj.art-1b2724839b2d47589601737008ea1fbf |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:18Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-1b2724839b2d47589601737008ea1fbf2024-01-27T07:09:37ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100583P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predispositionLucilla Pizzo0Zoe Lewis1Lauren Walsh2Cassandra Runke3Margit Nõukas4Katrin Männik5Neeme Tõnisson6Erik Thorland7Christa Martin8Katie Rudd9Erica Andersen10Department of Pathology, University of Utah School of Medicine. ARUP Laboratories, Salt Lake City, UTARUP Laboratories, Salt Lake City, UTAutism & Developmental Medicine Institute, Geisinger, Danville, PADepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MNEstonian Biobank, Institute of Genomic, University of Tartu, Tartu, EstoniaHealth 2030 Genome Center, Fondation Campus Biotech Geneva, Geneva, SwitzerlandEstonian Biobank, Institute of Genomic, University of Tartu, Tartu, EstoniaDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MNAutism & Developmental Medicine Institute, Geisinger, Danville, PAARUP Laboratories, Salt Lake City, UTARUP Laboratories, Salt Lake City, UThttp://www.sciencedirect.com/science/article/pii/S2949774423005836 |
| spellingShingle | Lucilla Pizzo Zoe Lewis Lauren Walsh Cassandra Runke Margit Nõukas Katrin Männik Neeme Tõnisson Erik Thorland Christa Martin Katie Rudd Erica Andersen P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition Genetics in Medicine Open |
| title | P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition |
| title_full | P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition |
| title_fullStr | P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition |
| title_full_unstemmed | P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition |
| title_short | P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition |
| title_sort | p536 2q11 2 recurrent cnvs including tmem127 a collaborative multi center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma paraganglioma syndrome predisposition |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423005836 |
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