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Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Published in:
2018
By:
- Mitter, Diana;
- Lemke, Johannes R.;
- Platzer, Konrad;
- Jamra, Rami;
- Ploos van Amstel, Hans K.;
- van der Smagt, Jasper J.;
- Stegmann, Alexander P. A.;
- Stumpel, Constance T. R. M.;
- Stevens, Servi J. C.;
- Oberndorff, Katrin;
- Marcelis, Carlo L.;
- Cogné, Benjamin;
- Vincent, Marie;
- Simonic, Ingrid;
- Hague, Jennifer;
- Park, Soo‐Mi;
- Park, Soo-Mi
Publication type:
journal article
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.
Published in:
Pediatric & Developmental Pathology, 2019, v. 22, n. 5, p. 475, doi. 10.1177/1093526619834429
By:
- Hague, Jennifer;
- Twiss, Philip;
- Mead, Zoe;
- Park, Soo-Mi
Publication type:
Article
Physicochemical characteristics, antimicrobial activity, ACE inhibitory activity of chitosan-salt, and its antihypertensive effect.
Published in:
Food Science & Biotechnology, 2010, v. 19, n. 3, p. 777, doi. 10.1007/s10068-010-0109-8
By:
- Kim, Hag-Lyeol;
- Park, Soo-Mi;
- Cho, Geon-Sik;
- Kim, Kye-Yeop;
- Kim, In-Cheol
Publication type:
Article
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Published in:
2022
By:
- Banka, Siddharth;
- Shalev, Stavit;
- Park, Soo-Mi;
- Wood, Katherine A;
- Thomas, Huw B;
- Wright, Helen L;
- Alyahya, Mohammed;
- Bankier, Sean;
- Alimi, Ola;
- Chervinsky, Elena;
- Zeef, Leo A H;
- O'Keefe, Raymond T
Publication type:
journal article
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.
Published in:
2024
By:
- Arbide, Daniel;
- Elkhateeb, Nour;
- Goljan, Ewa;
- Gonzalez, Carolina Perez;
- Maw, Anna;
- Park, Soo-Mi
Publication type:
Case Study
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3492, doi. 10.1002/ajmg.a.62976
By:
- Sy, Mary R.;
- Chauhan, Jaynee;
- Prescott, Katrina;
- Imam, Aliza;
- Kraus, Alison;
- Beleza, Ana;
- Salkeld, Lee;
- Hosdurga, Saraswati;
- Parker, Michael;
- Vasudevan, Pradeep;
- Islam, Lily;
- Goel, Himanshu;
- Bain, Nicole;
- Park, Soo‐Mi;
- Mohammed, Shehla;
- Dieterich, Klaus;
- Coutton, Charles;
- Satre, Véronique;
- Vieville, Gaëlle;
- Donaldson, Alan
Publication type:
Article
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1330, doi. 10.1002/ajmg.a.61163
By:
- Truelove, Adam;
- Mulay, Akhilesh;
- Prapa, Matina;
- Casey, Ruth T.;
- Adler, Amanda I.;
- Offiah, Amaka C.;
- Poole, Kenneth E. S.;
- Trotman, Jamie;
- Al Hasso, Namir;
- Park, Soo‐Mi
Publication type:
Article
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1931, doi. 10.1002/ajmg.a.38261
By:
- Hague, Jennifer;
- Delon, Isabelle;
- Brugger, Kim;
- Martin, Howard;
- Sparnon, Leanne;
- Simonic, Ingrid;
- Abbs, Stephen;
- Park, Soo‐Mi
Publication type:
Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
By:
- Menke, Leonie A.;
- van Belzen, Martine J.;
- Alders, Marielle;
- Cristofoli, Francesca;
- Ehmke, Nadja;
- Fergelot, Patricia;
- Foster, Alison;
- Gerkes, Erica H.;
- Hoffer, Mariëtte J. V.;
- Horn, Denise;
- Kant, Sarina G.;
- Lacombe, Didier;
- Leon, Eyby;
- Maas, Saskia M.;
- Melis, Daniela;
- Muto, Valentina;
- Park, Soo‐Mi;
- Peeters, Hilde;
- Peters, Dorien J. M.;
- Pfundt, Rolph
Publication type:
Article
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1608, doi. 10.1002/ajmg.a.37631
By:
- Hague, Jennifer;
- Delon, Isabelle;
- Brugger, Kim;
- Martin, Howard;
- Abbs, Stephen;
- Park, Soo‐Mi
Publication type:
Article
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2231, doi. 10.1002/ajmg.a.37189
By:
- Parker, Michael J.;
- Fryer, Alan E.;
- Shears, Deborah J.;
- Lachlan, Katherine L.;
- McKee, Shane A.;
- Magee, Alex C.;
- Mohammed, Shehla;
- Vasudevan, Pradeep C.;
- Park, Soo‐Mi;
- Benoit, Valérie;
- Lederer, Damien;
- Maystadt, Isabelle;
- study, DDD;
- FitzPatrick, David R.
Publication type:
Article
Mosaic Deletion of the NF 1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35853
By:
- Taylor Tavares, Ana Lisa;
- Willatt, Lionel;
- Armstrong, Ruth;
- Simonic, Ingrid;
- Park, Soo‐Mi
Publication type:
Article
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296
By:
- Burkitt-Wright, Emma M.M.;
- Bradley, Lisa;
- Shorto, Jennifer;
- McConnell, Vivienne P.M.;
- Gannon, Caroline;
- Firth, Helen V.;
- Park, Soo-Mi;
- D'Amore, Angela;
- Munyard, Paul F.;
- Turnpenny, Peter D.;
- Charlton, Amanda;
- Wilson, Meredith;
- Kerr, Bronwyn
Publication type:
Article
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
Published in:
2013
By:
- Moran, Carla;
- Schoenmakers, Nadia;
- Agostini, Maura;
- Schoenmakers, Erik;
- Offiah, Amaka;
- Kydd, Anna;
- Kahaly, George;
- Mohr-Kahaly, Susan;
- Rajanayagam, Odelia;
- Lyons, Greta;
- Wareham, Nicholas;
- Halsall, David;
- Dattani, Mehul;
- Hughes, Stephen;
- Gurnell, Mark;
- Park, Soo-Mi;
- Chatterjee, Krishna
Publication type:
journal article
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
Published in:
Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0148-0
By:
- McKie, Arthur;
- Alsaedi, Atif;
- Vogt, Julie;
- Stuurman, Kyra;
- Weiss, Marjan;
- Shakeel, Hassan;
- Tee, Louise;
- Morgan, Neil;
- Nikkels, Peter;
- van Haaften, Gijs;
- Park, Soo-Mi;
- van der Smagt, Jasper;
- Bugiani, Marianna;
- Maher, Eamonn
Publication type:
Article
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46124-9
By:
- Casey, Ruth T.;
- ten Hoopen, Rogier;
- Ochoa, Eguzkine;
- Challis, Benjamin G.;
- Whitworth, James;
- Smith, Philip S.;
- Martin, Jose Ezequiel;
- Clark, Graeme R.;
- Rodger, Fay;
- Maranian, Mel;
- Allinson, Kieren;
- Madhu, Basetti;
- Roberts, Thomas;
- Campos, Luis;
- Anstee, Joanne;
- Park, Soo-Mi;
- Marker, Alison;
- Watts, Colin;
- Bulusu, Venkata R.;
- Giger, Olivier T.
Publication type:
Article
Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy.
Published in:
Clinical Genetics, 2020, v. 98, n. 2, p. 147, doi. 10.1111/cge.13771
By:
- Wright, Georgia C.;
- Brown, Richard;
- Grayton, Hannah;
- Livingston, John H.;
- Park, Soo‐Mi;
- Parker, Alasdair P.J.;
- Patel, Anjla;
- Simonic, Ingrid;
- Thomas, Adam G.;
- Vadlamani, Gayatri;
- Horvath, Rita;
- Harijan, Pooja D.
Publication type:
Article
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 237, doi. 10.1002/mgg3.279
By:
- Casey, Ruth T.;
- Ascher, David B.;
- Rattenberry, Eleanor;
- Izatt, Louise;
- Andrews, Katrina A.;
- Simpson, Helen L.;
- Challis, Benjamen;
- Park, Soo‐Mi;
- Bulusu, Venkata R.;
- Lalloo, Fiona;
- Pires, Douglas E. V.;
- West, Hannah;
- Clark, Graeme R.;
- Smith, Philip S.;
- Whitworth, James;
- Papathomas, Thomas G.;
- Taniere, Phillipe;
- Savisaar, Rosina;
- Hurst, Laurence D.;
- Woodward, Emma R.
Publication type:
Article
Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.
Published in:
2017
By:
- Hague, Jennifer;
- Hackett, Gerald;
- Acerini, Carlo;
- Park, Soo‐Mi
Publication type:
Case Study
Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358
By:
- Blakely, Emma L.;
- Yarham, John W.;
- Alston, Charlotte L.;
- Craig, Kate;
- Poulton, Joanna;
- Brierley, Charlotte;
- Park, Soo‐Mi;
- Dean, Andrew;
- Xuereb, John H.;
- Anderson, Kirstie N.;
- Compston, Alistair;
- Allen, Chris;
- Sharif, Saba;
- Enevoldson, Peter;
- Wilson, Martin;
- Hammans, Simon R.;
- Turnbull, Douglass M.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 14, p. 2643, doi. 10.1093/hmg/ddp206
By:
- Coccia, Margherita;
- Brooks, Simon P.;
- Webb, Tom R.;
- Christodoulou, Katja;
- Wozniak, Izabella O.;
- Murday, Victoria;
- Balicki, Martha;
- Yee, Harris A.;
- Wangensteen, Teresia;
- Riise, Ruth;
- Saggar, Anand K.;
- Park, Soo-Mi;
- Kanuga, Naheed;
- Francis, Peter J.;
- Maher, Eamonn R.;
- Moore, Anthony T.;
- Russell-Eggitt, Isabelle M.;
- Hardcastle, Alison J.
Publication type:
Article
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 17, p. 2051, doi. 10.1093/hmg/11.17.2051
By:
- Castanet, Mireille;
- Park, Soo-Mi;
- Smith, Aaron;
- Bost, Michel;
- Léger, Juliane;
- Lyonnet, Stanislas;
- Pelet, Anna;
- Czernichow, Paul;
- Chatterjee, Krishna;
- Polak, Michel
Publication type:
Article
Direct interaction between BKCa potassium channel and microtubule-associated protein 1A
Published in:
FEBS Letters, 2004, v. 570, n. 1-3, p. 143, doi. 10.1016/j.febslet.2004.06.037
By:
- Park, Soo Mi;
- Liu, Guoxia;
- Kubal, Anup;
- Fury, Matthew;
- Cao, Luxiang;
- Marx, Steven O.
Publication type:
Article
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Published in:
Neurogenetics, 2017, v. 18, n. 1, p. 49, doi. 10.1007/s10048-016-0504-2
By:
- Schon, Katherine;
- Spasic-Boskovic, Olivera;
- Brugger, Kim;
- Graves, Tracey;
- Abbs, Stephen;
- Park, Soo-Mi;
- Ambegaonkar, Gautam;
- Armstrong, Ruth
Publication type:
Article
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Published in:
Clinical Endocrinology, 2022, v. 97, n. 4, p. 448, doi. 10.1111/cen.14639
By:
- Winzeler, Bettina;
- Tufton, Nicola;
- S. Lim, Eugenie;
- Challis, Ben G.;
- Park, Soo‐Mi;
- Izatt, Louise;
- Carroll, Paul V.;
- Velusamy, Anand;
- Hulse, Tony;
- Whitelaw, Benjamin C.;
- Martin, Ezequiel;
- Rodger, Fay;
- Maranian, Melanie;
- Clark, Graeme R.;
- A. Akker, Scott;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article
A practical guide to genetic testing in endocrinology.
Published in:
Clinical Endocrinology, 2022, v. 97, n. 4, p. 388, doi. 10.1111/cen.14596
By:
- Izatt, Louise;
- Owens, Martina M.;
- Pierce, Heather;
- Wilcox, Sarah;
- Park, Soo‐Mi
Publication type:
Article
SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series.
Published in:
Clinical Endocrinology, 2022, v. 96, n. 4, p. 499, doi. 10.1111/cen.14594
By:
- Williams, Sophie T.;
- Chatzikyriakou, Prodromos;
- Carroll, Paul V.;
- McGowan, Barbara M.;
- Velusamy, Anand;
- White, Gemma;
- Obholzer, Rupert;
- Akker, Scott;
- Tufton, Nicola;
- Casey, Ruth T.;
- Maher, Eamonn R.;
- Park, Soo‐Mi;
- Porteous, Mary;
- Dyer, Rebecca;
- Tan, Tricia;
- Wernig, Florian;
- Brady, Angela F.;
- Kosicka‐Slawinska, Monika;
- Whitelaw, Benjamin C.;
- Dorkins, Huw
Publication type:
Article
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
Published in:
Clinical Endocrinology, 2020, v. 93, n. 5, p. 528, doi. 10.1111/cen.14289
By:
- MacFarlane, James;
- Seong, Keat Cheah;
- Bisambar, Chad;
- Madhu, Basetti;
- Allinson, Kieren;
- Marker, Alison;
- Warren, Anne;
- Park, Soo‐Mi;
- Giger, Olivier;
- Challis, Benjamin G.;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Published in:
Clinical Endocrinology, 2020, v. 93, n. 4, p. 409, doi. 10.1111/cen.14254
By:
- Mariathasan, Sashi;
- Andrews, Katrina A.;
- Thompson, Edward;
- Challis, Ben G.;
- Wilcox, Sarah;
- Pierce, Heather;
- Hale, Julia;
- Spiden, Sarah;
- Fuller, Gavin;
- Simpson, Helen L.;
- Fish, Brian;
- Jani, Piyush;
- Seetho, Ian;
- Armstrong, Ruth;
- Izatt, Louise;
- Joshi, Mamta;
- Velusamy, Anand;
- Park, Soo‐Mi;
- Casey, Ruth T.
Publication type:
Article
Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.
Published in:
Clinical Endocrinology, 2019, v. 90, n. 4, p. 499, doi. 10.1111/cen.13926
By:
- Wong, Mei Yin;
- Andrews, Katrina A.;
- Challis, Benjamin G.;
- Park, Soo‐Mi;
- Acerini, Carlo L.;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article

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