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- Title
- P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies
- Creators
- Philip BooneKamli FaourKiana Mohajeri - Massachusetts General HospitalJohn Lemanski - Massachusetts General HospitalBimal Jana - Massachusetts General HospitalJack Fu - Massachusetts General HospitalJennifer Kerkhof - Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, LHSC, London, CANHaley McConkey - Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, LHSC, London, CANRyan Collins - Massachusetts General HospitalDiane Lucente - Massachusetts General HospitalCeline de Esch - Massachusetts General HospitalMariana Moysés-Oliveira - Massachusetts General HospitalAlexander Nuttle - Massachusetts General HospitalAloysius Domingo - Massachusetts General HospitalSerkan Erdin - Massachusetts General HospitalMaris Hanley - Massachusetts General HospitalAmy Watt - TCR2 Therapeutics, Cambridge, MAEric Surette - Boston CollegeGloria Lima - TCR2 Therapeutics, Cambridge, MALaura Smith - Massachusetts General HospitalMonica Salani - Massachusetts General HospitalRachita Yadav - Massachusetts General HospitalRicardo Harripaul - Massachusetts General HospitalKathryn O’Keefe - Massachusetts General HospitalNicholas Burt - Massachusetts General HospitalMatthew Larson - Massachusetts General HospitalRiya Bhavsar - Massachusetts General HospitalBenjamin Currall - Massachusetts General HospitalSusan Sell - Pennsylvania State UniversityRoger Ladda - Pennsylvania State UniversityLaDonna Immken - Dell Children's Medical Group, Austin, TXCatherine Buchanan - DELLBo Yuan - Baylor College of MedicineSally Lynch - Children's Health Ireland at CrumlinChristian Gilissen - Radboud University Medical Center, Nijmegen, NLRolph Pfundt - Radboud University Medical Center, Nijmegen, NLCharlotte Ockeloen - Radboud University Medical Center, Nijmegen, NLTjitske Kleefstra - Radboud University Medical Center, Nijmegen, NLEls Vanhoutte - Maastricht UniversityMargje Sinnema - Maastricht UniversitySander Stegmann - Maastricht UniversityServi Stevens - Maastricht UniversityMaria Iascone - ITASilvia MaitzBenjamin Cogne - Nantes University Hospital Center, Nantes, FRCedric Le Caignec - Nantes University Hospital Center, Nantes, FRMarie Vincent - Nantes University Hospital Center, Nantes, FRMathilde Nizon - Nantes University Hospital Center, Nantes, FRAlison Male - Great Ormond Street HospitalPankaj Agrawal - Boston Children's HospitalMichelle Thompson - HudsonAlpha Institute for BiotechnologyPernille Torring - Odense University HospitalCharlotte Brasch-Andersen - Odense University HospitalLaurence Faivre - InsermAnge-Line BruelBertrand Isidor - Nantes University Hospital Center, Nantes, FRChristophe PhilippeManuela Morleo - ITAMonica Wojcik - Boston Children's HospitalCasie Genetti - Boston Children's HospitalSiddharth SrivastavaSonia BallalSophia Schließke - University of Leipzig Medical Center, Leipzig, DERami Abou Jamra - University of Leipzig Medical Center, Leipzig, DEAndree Delahaye - Assistance Publique, Hôpitaux de Paris, Paris, FRLydia von Wintzingerode - University of Leipzig Medical Center, Leipzig, DEViktoria Bothe - University of Leipzig Medical Center, Leipzig, DEMarine Houlier - Assistance Publique, Hôpitaux de Paris, Paris, FRTimothy Stout - Baylor College of MedicineGaber Bergant - GenomicBorut Peterlin - GenomicOana Moldovan - Hospital de Santa MariaNúria Martínez-Gil - Hebron UniversityEmanuela Argilli - University of California, San FranciscoElliott Sherr - University of California, San FranciscoTamar HarelHallel Rosenberg-FoglerJill RosenfeldIngrid Wentzensen - GeneDx, Gaithersburg, MDDominik WestphalKorbinian RiedhammerLaura Orec - Heidelberg University School of Medicine, Heidelberg, DEJames Gusella - Massachusetts General HospitalBekim Sadikovic - Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, LHSC, London, CANDerek Tai - Massachusetts General HospitalMichael Talkowski
- Publication Details
- Genetics in Medicine Open, Vol.1(1), p.100188
- Publisher
- Elsevier Inc
- Academic Unit
- Miller School of Medicine; UMMG Dept of Pediatrics - Neonatology; UMMG Department of Pediatrics
- Language
- English
- Resource Type
- Journal article
- Record Identifier
- 991031926775602976