Dr Soo-Mi Park - Publications

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

05 Jun 2024

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

19 May 2020

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

01 May 2019

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

31 Jan 2018

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

15 Aug 2016

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

01 Aug 2016

An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor

01 Nov 2013

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

16 Oct 2008

Genetics of congenital hypothyroidism

01 May 2005

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

15 Aug 2002