Soo-Mi Park

发表

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

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Soo-Mi Park, M. Tran, S. Tomkins, 2017, The Journal of clinical endocrinology and metabolism.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Phillipe Taniere, Louise Izatt, Douglas E V Pires, 2017, Molecular genetics & genomic medicine.

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

Soo-Mi Park, R. Casey, E. Maher, 2017, Endocrine-related cancer.

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

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015, Journal of neuropathology and experimental neurology.

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

Soo-Mi Park, A. Adler, A. Offiah, 2019, American journal of medical genetics. Part A.

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

Soo-Mi Park, H. Firth, Meredith Wilson, 2012, American journal of medical genetics. Part A.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma

Soo-Mi Park, J. Macfarlane, R. Casey, 2020, Clinical endocrinology.

Congenital Hypothyroidism But Not Athyreosis A Novel Missense Mutation in Human TTF-2 (FKHL15) Gene Associated with

Soo-Mi Park, E. Battaloğlu, V. Chatterjee, 2006 .

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Soo-Mi Park, M. Polak, P. Czernichow, 2002, Human molecular genetics.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort

S. Wilcox, Soo-Mi Park, R. Casey, 2020, Clinical endocrinology.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Soo-Mi Park, A. Powlson, R. Casey, 2018, Endocrinology, diabetes & metabolism case reports.

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

Soo-Mi Park, C. Anderson, M. Dattani, 2016, The Journal of clinical endocrinology and metabolism.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Soo-Mi Park, S. Abbs, R. Armstrong, 2017, neurogenetics.

Management of primary hyperparathyroidism in pregnancy: a case series

Soo-Mi Park, R. Casey, Samson O Oyibo, 2019, Endocrinology, diabetes & metabolism case reports.

A Family with Co-existing SDHB and SDHD Mutations Causing Hereditary Paraganglioma Syndrome

Soo-Mi Park, S. Kenwrick, F. Lalloo, 2013 .

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

Soo-Mi Park, N. Wareham, M. Dattani, 2013, The Journal of clinical endocrinology and metabolism.

A Case of Hepatocellular Carcinoma Within Hepatocellular Adenoma in a Non-Cirrhotic Male

Soo-Mi Park, D. Y. Kim, S. Kim, 2009, The Korean journal of internal medicine.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

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

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

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

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

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

Soo-Mi Park, M. Weiss, K. Stuurman, 2014, Acta neuropathologica communications.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype

R. Pfundt, H. Peeters, D. Horn, 2016, American journal of medical genetics. Part A.

X-linked cataract and Nance-Horan syndrome are allelic disorders

Soo-Mi Park, T. Webb, A. Moore, 2009, Human molecular genetics.

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

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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

Soo-Mi Park, C. Acerini, R. Casey, 2019, Clinical endocrinology.

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

Soo-Mi Park, J. Gill, M. Chomicki, 2019, BMJ Case Reports.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Soo-Mi Park, J. Hague, Philip Twiss, 2019, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.

H. L. Wright, Soo-Mi Park, R. O’Keefe, 2022, Brain : a journal of neurology.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

I. Simonic, Soo-Mi Park, D. Mitter, 2018, Annals of neurology.

Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

I. Simonic, Soo-Mi Park, L. Willatt, 2013, American journal of medical genetics. Part A.

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Courtney E. French, Soo-Mi Park, S. Ellard, 2022, HGG advances.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

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

Soo-Mi Park, P. Vasudevan, A. Nicholas, 2017, Endocrinology, diabetes & metabolism case reports.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

Soo-Mi Park, Samson O Oyibo, J. Rajkanna, 2020, Endocrinology, diabetes & metabolism case reports.

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort

Soo-Mi Park, M. Maranian, P. Carroll, 2021, Clinical endocrinology.

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.

Soo-Mi Park, F. Gallagher, M. McLean, 2018, JCO precision oncology.

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

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015 .

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

Soo-Mi Park, C. Acerini, J. Hague, 2017, Prenatal diagnosis.

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

Soo-Mi Park, M. Maranian, R. Casey, 2019, Scientific Reports.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Douglas E. V. Pires, Soo-Mi Park, A. Antoniou, 2018, Journal of Medical Genetics.

SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series

Soo-Mi Park, C. Bowles, P. Carroll, 2021, Clinical endocrinology.

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

Soo-Mi Park, S. Abbs, I. Delon, 2016, American journal of medical genetics. Part A.

Breast cancer in multiple endocrine neoplasia type 1 (MEN1)

Soo-Mi Park, R. T. Hoopen, C. Parkinson, 2021, Endocrinology, diabetes & metabolism case reports.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Joanna Poulton, Robert W Taylor, Robert W. Taylor, 2013, Human mutation.

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

I. Simonic, Soo-Mi Park, S. Abbs, 2017, American Journal of Medical Genetics. Part A.

Spontaneous pneumothorax can be associated with TGFBR2 mutation

Soo-Mi Park, S. Holden, B. Gooptu, 2015, European Respiratory Journal.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Soo-Mi Park, S. Abbs, R. Armstrong, 2017, neurogenetics.

Non-autoimmune thyroid disease

Soo-Mi Park, P. Beck‐Peccoz, L. Persani, 2002 .

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy

I. Simonic, Soo-Mi Park, R. Horvath, 2020, Clinical genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

A practical guide to genetic testing in endocrinology

S. Wilcox, Soo-Mi Park, L. Izatt, 2021, Clinical endocrinology.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

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

Soo-Mi Park, H. Firth, C. Hall, 2007, American journal of medical genetics. Part A.

University of Birmingham SDHA related tumorigenesis:

Soo-Mi Park, Rosina Savisaar, F. Lalloo, 2017 .

University of Birmingham SDHA related tumorigenesis:

Soo-Mi Park, Rosina Savisaar, F. Lalloo, 2017 .

Genetic testing for hereditary hyperparathyroidism in a large UK cohort

Soo-Mi Park, R. Casey, R. Armstrong, 2019, Endocrine Abstracts.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.

Soo-Mi Park, F. Gallagher, M. McLean, 2018, JCO precision oncology.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Sri V. V. Deevi, Courtney E. French, K. Stirrups, 2019, Intensive Care Medicine.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.