De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

Autor: Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org., Kiziltug E; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Loring E; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Allocco A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Marlier A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9WL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Stuart H; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9WL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Passos-Buenos MR; Centro de Estudos Do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil., Rosa R; Clinical Genetics, UFCSPA and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil., Rogatto SR; Neogene Laboratory, Research Center (CIPE), AC Camargo Cancer Center, São Paulo, SP, Brazil., Tonne E; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; University of Oslo, Oslo, Norway., Stiegler AL; Department of Pharmacology, Yale University, New Haven, CT, USA., Boggon TJ; Department of Pharmacology, Yale University, New Haven, CT, USA., Alperovich M; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT, USA., Steinbacher D; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT, USA., Staffenberg DA; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA., Flores RL; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA., Persing JA; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT, USA., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. rickl@rockefeller.edu.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA. rickl@rockefeller.edu.

Publikováno v: Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 21-32. Date of Electronic Publication: 2022 Aug 23.