Soo-Mi Park

Soo-Mi Park

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Soo-Mi Park

Soo-Mi Park

Publications by authors named "Soo-Mi Park"

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Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

Am J Med Genet A 2019 Jul 1;179(7):1330-1337. Epub 2019 May 1.

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.61163DOI Listing
July 2019

Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1.

BMJ Case Rep 2019 Jul 21;12(7). Epub 2019 Jul 21.

Trauma and Orthopaedics, Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, Cambridgeshire, UK.

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http://dx.doi.org/10.1136/bcr-2018-228170DOI Listing
July 2019

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Clin Endocrinol (Oxf) 2019 Apr 29;90(4):499-505. Epub 2019 Jan 29.

Department of Diabetes and Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1111/cen.13926DOI Listing
April 2019

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.

Pediatr Dev Pathol 2019 Mar 19:1093526619834429. Epub 2019 Mar 19.

1 Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1177/1093526619834429DOI Listing
March 2019

A case of a metastatic mutated paraganglioma re-presenting twenty-three years after initial surgery.

Endocr Relat Cancer 2017 08;24(8):L69-L71

Department of Medical GeneticsUniversity of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK.

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https://erc.bioscientifica.com/view/journals/erc/24/8/ERC-17
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http://dx.doi.org/10.1530/ERC-17-0206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527372PMC
August 2017

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Am J Med Genet A 2017 Jul 12;173(7):1931-1935. Epub 2017 May 12.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.38261DOI Listing
July 2017

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

Endocrinol Diabetes Metab Case Rep 2017 7;2017. Epub 2017 Jun 7.

University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, CambridgeUK.

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http://dx.doi.org/10.1530/EDM-17-0040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467655PMC
June 2017

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Prenat Diagn 2017 04 23;37(4):409-411. Epub 2017 Feb 23.

East Anglian Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://doi.wiley.com/10.1002/pd.5009
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http://dx.doi.org/10.1002/pd.5009DOI Listing
April 2017

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

J Clin Endocrinol Metab 2016 12 15;101(12):4521-4531. Epub 2016 Aug 15.

University of Cambridge Metabolic Research Laboratories (A.K.N., E.S., G.L., V.K.K.C., N.S.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom; Department of Human Genetics (E.G.S., C.A.A.), The Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; Research Centre for Regenerative and Restorative Medicine (H.C.), Department of Medical Genetics Istanbul Medipol University, Kavacık, Istanbul, Turkey; Pediatric Endocrine Unit (S.A., I.U.), Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman; Paediatric Endocrinology Department (A.D.), Mafraq Hospital, AbuDhabi, United Arab Emirates; Pediatric Department Prince Mohamed Bin Abdulaziz Hospital (A.M.H.), Madinah, Kingdom of Saudi Arabia; Department of Paediatrics (M.A.), Madina Maternity & Children's Hospital Madina Munawara, Saudi Arabia; 8. Department of Endocrinology (C.P.), Great Ormond St Hospital for Children, London, United Kingdom; Department of Paediatrics (N.N.), Luton and Dunstable University Hospital, Luton, United Kingdom; Division of Paediatric Endocrinology (Z.A.), Dr Sami Ulus Woman Health and Children Research Hospital Ankara, Turkey; Department of Paediatric Endocrinology (H.S.), Uludağ University, School of Medicine Bursa, Turkey; Department of Paediatric Endocrinology (E.B.), Dokuz Eylül University, Faculty of Medicine Izmir, Turkey; Developmental Endocrinology Research Group (M.D.), Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, United Kingdom; Department of Paediatrics (S.S.), Leicester Royal infirmary, Leicester United Kingdom; Centre for Paediatrics and Child Health (P.G.M.), Institute of Human Development University of Manchester, and Royal Manchester Children's Hospital, Manchester, United Kingdom; Paediatric Endocrinology Division (A.B.), College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia; Department of Paediatrics (R.W., A.T.), University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; W Midlands Regional Genetics Laboratory (R.I.), Birmingham Women's Hospital NHS Foundation Trust, Birmingham, United Kingdom; Department of Paediatric Endocrinology (R.P.), Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Department of Paediatrics (K.T.), Diana Princess of Wales Hospital, Grimsby, United Kingdom; Department of Paediatric Endocrinology (J.H.D.), University Hospital Southampton, Southampton, United Kingdom; Department of Paediatrics (V.P.), Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, United Kingdom; Department of Clinical Genetics (S.-M.P.), Cambridge University Hospitals NHS Foundation Trust, Cambridge United Kingdom; London N W Healthcare NHS Trust (A.F.M.), Harrow, Middlesex, United Kingdom; Division of Population Medicine (J.W.G.), School of Medicine, Cardiff University, Heath Park Cardiff, UK; Department of Paediatric Endocrinology (A.A.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Centre for Endocrinology (E.P.-G.), William Harvey Research Institute, Queen Mary University London and Children's Hospital, Barts Health NHS Trust, London, United Kingdom; Department of Medical Genetics (H.M., K.B., E.R.M.), University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

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http://dx.doi.org/10.1210/jc.2016-1879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155683PMC
December 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Am J Med Genet A 2016 06 21;170(6):1608-12. Epub 2016 Mar 21.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37631DOI Listing
June 2016

Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Eur Respir J 2015 Dec 22;46(6):1832-5. Epub 2015 Oct 22.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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http://dx.doi.org/10.1183/13993003.00952-2015DOI Listing
December 2015

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

J Neuropathol Exp Neurol 2015 Jul;74(7):688-703

From the Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK (NZL, CLA, LH, GF, RM, RWT); East Anglian Medical Genetics Service, Cambridge University Hospital NHS foundations Trust, Cambridge Biomedical Campus, Cambridge, UK (KS, SP); Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge UK (DK); Neonatal Unit, The Rosie Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK (AO); The Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Du Cane Road, London, UK (CL); Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK (RHK); Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK (IPH); Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK (GKB); and Department of Histopathology, Cambridge University Hospital NHS foundations Trust, Cambridge, UK (AFD).

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http://dx.doi.org/10.1097/NEN.0000000000000209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470523PMC
July 2015

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Acta Neuropathol Commun 2014 Dec 5;2:148. Epub 2014 Dec 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1186/s40478-014-0148-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271450PMC
December 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

J Clin Endocrinol Metab 2013 Nov 12;98(11):4254-61. Epub 2013 Aug 12.

University of Cambridge, Metabolic Research Laboratories, Institute of Metabolic Science, Level 4, Box 289, Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-2215DOI Listing
November 2013

Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.

Am J Med Genet A 2013 May 26;161A(5):1185-8. Epub 2013 Mar 26.

Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.35853DOI Listing
May 2013

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Am J Med Genet A 2012 May 11;158A(5):1102-10. Epub 2012 Apr 11.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.35296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495255PMC
May 2012

A case of hepatocellular carcinoma within hepatocellular adenoma in a non-cirrhotic male.

Korean J Intern Med 2009 Jun 8;24(2):147-52. Epub 2009 Jun 8.

Department of Internal Medicine, National Health Insurance Corporation Ilsan Hospital, Goyang, Korea.

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http://kjim.org/journal/view.php?doi=10.3904/kjim.2009.24.2.
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http://dx.doi.org/10.3904/kjim.2009.24.2.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698597PMC
June 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.

Am J Med Genet A 2007 Sep;143A(17):2024-8

Department of Medical Genetics, Addenbrooke's Hospital NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.31857DOI Listing
September 2007

Progenitor cell expansion: an important source of hepatocyte regeneration in chronic hepatitis.

J Hepatol 2004 Dec;41(6):983-91

Department of Pathology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.jhep.2004.08.017DOI Listing
December 2004

Direct interaction between BKCa potassium channel and microtubule-associated protein 1A.

FEBS Lett 2004 Jul;570(1-3):143-8

Department of Physiology and Cellular Biophysics, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1016/j.febslet.2004.06.037DOI Listing
July 2004

Assembly of a Ca2+-dependent BK channel signaling complex by binding to beta2 adrenergic receptor.

EMBO J 2004 Jun 13;23(11):2196-205. Epub 2004 May 13.

Division of Cardiology and Center for Molecular Cardiology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

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http://dx.doi.org/10.1038/sj.emboj.7600228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC419908PMC
June 2004