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Tessa Homfray

Research Profile

Physiology

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Genes & Molecular Sequences

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MutS Homolog 2 Protein

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Publications

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Daniel C Bartos; Rachel Bastiaenen; Elijah R Behr; Don E Burgess; Michael H Gollob; Pascale Guicheney; Tessa Homfray; Jonathan N Johnson; David J Tester; Michael J Ackerman; Jeffrey B Anderson; Brian P Delisle
A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation.
S Santo; Baskaran Thilaganathan; G Pilu; P Rich; Amarnath Bhide; F D'Antonio; Tessa Homfray; Aris T Papageorghiou
Counseling in fetal medicine: agenesis of the corpus callosum.
Alexander J Doyle; Jefferson J Doyle; Elisabeth Gillis; Raoul C Hennekam; Tessa Homfray; Nicholas D Huso; Dan Leahy; Mark E Lindsay; Bart Loeys; Samantha Maragh; Andy McCallion; David W Mohr; Geert Mortier; Russell A Norris; Kimberly Sauls; Dorien Schepers; Alan F Scott; Lut Van Laer; Pamela H Arn; Seneca L Bessling; Mark J Caulfield; Cynthia J Curry; Anne Destrée; Harry C Dietz
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

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All Publications

2013: Daniel C Bartos; Rachel Bastiaenen; Elijah R Behr; Don E Burgess; Michael H Gollob; Pascale Guicheney; Tessa Homfray; Jonathan N Johnson; David J Tester; Michael J Ackerman; Jeffrey B Anderson; Brian P Delisle
A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation.
Journal of cardiovascular electrophysiology 2013;24(5):562-9.
2012: S Santo; Baskaran Thilaganathan; G Pilu; P Rich; Amarnath Bhide; F D'Antonio; Tessa Homfray; Aris T Papageorghiou
Counseling in fetal medicine: agenesis of the corpus callosum.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2012;40(5):513-21.
2012: Alexander J Doyle; Jefferson J Doyle; Elisabeth Gillis; Raoul C Hennekam; Tessa Homfray; Nicholas D Huso; Dan Leahy; Mark E Lindsay; Bart Loeys; Samantha Maragh; Andy McCallion; David W Mohr; Geert Mortier; Russell A Norris; Kimberly Sauls; Dorien Schepers; Alan F Scott; Lut Van Laer; Pamela H Arn; Seneca L Bessling; Mark J Caulfield; Cynthia J Curry; Anne Destrée; Harry C Dietz
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Nature genetics 2012;44(11):1249-54.
2011: Sarah Hoang; Joowook Ahn; Kathy Mann; Sue Bint; Sahar Mansour; Tessa Homfray; Shehla Mohammed; Caroline Mackie Ogilvie
Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform.
European journal of medical genetics 2011;54(2):121-9.
2011: Susana Santo; Sahar Mansour; Baskaran Thilaganathan; Tessa Homfray; Aris T Papageorghiou; Sandra Calvert; Amarnath Bhide
Prenatal diagnosis of non-immune hydrops fetalis: what do we tell the parents?
Prenatal diagnosis 2011;31(2):186-95.
2011: James J Cox; Lionel Willatt; Tessa Homfray; C Geoffrey Woods
A SOX9 duplication and familial 46,XX developmental testicular disorder.
The New England journal of medicine 2011;364(1):91-3.
2010: Alexander Pearlman; Johnny Loke; Cedric Le Caignec; Stefan White; Lisa Chin; Andrew Friedman; Nicholas Warr; John Willan; David Brauer; Charles Farmer; Eric Brooks; Carole Oddoux; Bridget Riley; Shahin Shajahan; Giovanna Camerino; Tessa Homfray; Andrew H Crosby; Jenny Couper; Albert David; Andy Greenfield; Andrew Sinclair; Harry Ostrer
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
American journal of human genetics 2010;87(6):898-904.
2010: Fiona Connell; Kamini Kalidas; Pia Ostergaard; Glen Brice; Tessa Homfray; Lesley Roberts; David J Bunyan; Sally Mitton; Sahar Mansour; Peter Mortimer; Steve Jeffery
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
Human genetics 2010;127(2):231-41.
2008: Fiona Connell; Tessa Homfray; Baskaran Thilaganathan; Amarnath Bhide; Iona Jeffrey; Renata Hutt; Peter Mortimer; Sahar Mansour
Congenital vascular malformations: a series of five prenatally diagnosed cases.
American journal of medical genetics. Part A 2008;146A(20):2673-80.
2008: Zahurul A Bhuiyan; Tarek S Momenah; Qiuming Gong; Ahmad S Amin; Saleh Al Ghamdi; Julene S Carvalho; Tessa Homfray; marcel mannens; Zhengfeng Zhou; Arthur A M Wilde
Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.
Heart rhythm : the official journal of the Heart Rhythm Society 2008;5(4):553-61.
2007: Melissa L Street; John C K Barber; Tracy A Boyle; Katrina H Ellis; Hilary Bullman; Tessa Homfray
Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy.
Prenatal diagnosis 2007;27(9):858-60.
2007: Julian Barwell; Laurent Pangon; Shirley Hodgson; Anne Georgiou; Ian Kesterton; T Slade; M Taylor; S J Payne; H Brinkman; J Smythe; Neil J Sebire; Ellen Solomon; Zoe Docherty; Richard S Camplejohn; Tessa Homfray; Joanna R Morris
Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics.
Journal of medical genetics 2007;44(8):516-20.
2007: Richard H Scott; Tessa Homfray; Nicola L Huxter; Sally G Mitton; Ruth Nash; Mike N Potter; Donna Lancaster; Nazneen Rahman
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.
Journal of medical genetics 2007;44(7):e83.
2007: Nicola Fratelli; Aris T Papageorghiou; Federico Prefumo; S Bakalis; Tessa Homfray; Baskaran Thilaganathan
Outcome of prenatally diagnosed agenesis of the corpus callosum.
Prenatal diagnosis 2007;27(6):512-7.
2007: F Forzano; S Mansour; antonio maria ierullo; Tessa Homfray; Baskaran Thilaganathan
Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature.
Prenatal diagnosis 2007;27(6):495-501.
2007: Lin Lin; Pascal Philibert; Bruno Ferraz-de-Souza; Daniel Kelberman; Tessa Homfray; Assunta Albanese; Veruska Molini; Neil J Sebire; Silvia Einaudi; Gerard S Conway; Ieuan A Hughes; J Larry Jameson; Charles Sultan; Mehul T Dattani; John C Achermann
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
The Journal of clinical endocrinology and metabolism 2007;92(3):991-9.
2003: Neil Whittock; Louise Izatt; Anuska Mann; Tessa Homfray; Christopher Bennett; Sahar Mansour; Jane Hurst; Alan Fryer; Anand K Saggar; Julian G Barwell; Sian Ellard; Peter T Clayton
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
The Journal of investigative dermatology 2003;121(4):939-42.
2003: Federico Prefumo; Tessa Homfray; Iona Jeffrey; Isabella Moore; Baskaran Thilaganathan
A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests.
American journal of medical genetics. Part A 2003;120A(3):386-8.
2002: S Bakalis; Shanthi Sairam; Tessa Homfray; K Harrington; K Nicolaides; Baskaran Thilaganathan
Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2002;20(3):226-9.
2000: K Cook; Federico Prefumo; Francesca Presti; Tessa Homfray; S Campbell
The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2000;16(6):578-81.