Phenotypes and genotypes in individuals with SMC1A variants.

Autor: Huisman S; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Prinsenstichting Institute, Purmerend, the Netherlands., Mulder PA; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Redeker E; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Bader I; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Bisgaard AM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Brooks A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Cinca C; División Genetica, Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina., Clark D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cormier-Daire V; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, Paris, France., Deardorff MA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Elting M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., van Essen A, FitzPatrick D; MRC Human Genetics Unit, IGMM, Western General Hospital, Edinburgh, United Kingdom., Gervasini C; Department of Health Sciences, Medical Genetics, University of Milan, Milan, Italy., Gillessen-Kaesbach G; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Horn D; Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Isrie M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Jansen S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands., Jespersgaard C; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Kaiser FJ; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands., Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Lakeman P; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Landlust A; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Michot C; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, Paris, France., Moss J; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom.; Institute of Cognitive Neuroscience, University College London, London, United Kingdom., Noon SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Oliver C; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom., Parenti I; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Pie J; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Ramos FJ; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa' CIBERER-GCV02 and Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Russo S; Molecular Biology Laboratory, Istituto Auxologico Italiano, Milan, Italy., Selicorni A; UOC Pediatria, ASST Lariana, Como, Italy., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Vorstenbosch R; Severinus Institute, Veldhoven, the Netherlands., Wenger TL; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington., van Balkom I; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Piening S; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Wierzba J; Departments of Pediatrics, Hematology, Oncology and Department of General Nursery, Medical University of Gdansk, Gdansk, Poland., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Aug; Vol. 173 (8), pp. 2108-2125. Date of Electronic Publication: 2017 May 26.

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

Autor: Mehta D; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Noon SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Schwartz E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wilkens A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bedoukian EC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Scarano I; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Crenshaw EB 3rd; Center for Childhood Communication, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Otorhinolaryngology: Head and Neck Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. ian2@mail.med.upenn.edu.; The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. ian2@mail.med.upenn.edu.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2523-30. Date of Electronic Publication: 2016 Aug 02.

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.

Autor: Kaur M, Mehta D, Noon SE, Deardorff MA, Zhang Z, Krantz ID

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 163-70. Date of Electronic Publication: 2016 Apr 29.

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.

Autor: Katz OL, Krantz ID, Noon SE

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 92-101. Date of Electronic Publication: 2016 Apr 20.

Dr. Laird G. Jackson Festschrift.

Autor: Noon SE, Deardorff MA, Krantz ID

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 72-5. Date of Electronic Publication: 2016 May 05.