ProfileOfResearchers

Identificadas 21

TÃTULO: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Full Text
AUTORES: Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos Pinero, Benito; Beeson, David; Ben Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C.; ...Mais
PUBLICAÇÃO: 2023, FONTE: GENOME MEDICINE, VOLUME: 15, NÚMERO: 1

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TÃTULO: Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma Full Text
AUTORES: Luis Cardoso; Mark Stevenson; Rajesh V Thakker;
PUBLICAÇÃO: 2017, FONTE: HUMAN MUTATION, VOLUME: 38, NÚMERO: 12

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TÃTULO: Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene Full Text
AUTORES: Manuel C Lemos; Paul T Christie; Dircea Rodrigues; Rajesh V Thakker;
PUBLICAÇÃO: 2016, FONTE: CLINICAL ENDOCRINOLOGY, VOLUME: 84, NÚMERO: 3

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CrossRef: 2

TÃTULO: GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders Full Text
AUTORES: Manuel C Lemos; Rajesh V Thakker;
PUBLICAÇÃO: 2015, FONTE: HUMAN MUTATION, VOLUME: 36, NÚMERO: 1

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CrossRef: 94

TÃTULO: Whole-Exome Sequencing Studies of Parathyroid Carcinomas Reveal Novel PRUNE2 Mutations, Distinctive Mutational Spectra Related to APOBEC-Catalyzed DNA Mutagenesis and Mutational Enrichment in Kinases Associated With Cell Migration and Invasion
AUTORES: Willie Yu; John R McPherson; Mark Stevenson; Ronald van Eijk; Hong Lee Heng; Paul Newey; Anna Gan; Dina Ruano; Dachuan Huang; Song Ling Poon; Choon Kiat Ong; Tom van Wezel; Branca Cavaco; Steven G Rozen; Patrick Tan; Bin T Teh; Rajesh V Thakker; Hans Morreau;
PUBLICAÇÃO: 2015, FONTE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 100, NÚMERO: 2

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TÃTULO: Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
AUTORES: Fadil M Hannan; Andrew A Nesbit; Chen Zhang; Treena Cranston; Alan J Curley; Brian Harding; Carl Fratter; Nigel Rust; Paul T Christie; Jeremy J O Turner; Manuel C Lemos; Michael R Bowl; Roger Bouillon; Caroline Brain; Nicola Bridges; Christine Burren; John M Connell; Heike K Jung; Eileen Marks; David McCredie; Zulf Mughal; Christine Rodda; Sherida Tollefsen; Edward M Brown; Jenny J Yang; Rajesh V Thakker; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 21, NÚMERO: 12

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CrossRef: 142

TÃTULO: MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas
AUTORES: Gerard V Walls; Manuel C Lemos; Mahsa Javid; Miriam Bazan Peregrino; Jeshmi Jeyabalan; Anita A C Reed; Brian Harding; Damian J Tyler; Daniel J Stuckey; Sian Piret; Paul T Christie; Olaf Ansorge; Kieran Clarke; Len Seymour; Rajesh V Thakker;
PUBLICAÇÃO: 2012, FONTE: CANCER RESEARCH, VOLUME: 72, NÚMERO: 19

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CrossRef: 28