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John Mulley

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Jillian Nicholl; Claire Pridmore; Shanna Suwalski; Elizabeth M Thompson; Suzanna Thompson; Wendy Waters; Sui Yu; Sharon M Bain; Christopher Barnett; Sue Brown; Damian Clark; John Entwistle; Kathryn Friend; Eric Haan; Michael G Harbord; Yvonne Hull; Jan Liebelt; Lesley McGregor; John C Mulley
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Leanne M Dibbens; Katherine L Helbig; Bree L Hodgson; John C Mulley; Karen L Oliver; Samuel F Berkovic; Ingrid E Scheffer
Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.
Karl Martin Klein; John C Mulley; Terence J O'Brien; Kavita Praveen; Samuel F Berkovic; Simon Foote; Sarah E Heron; Ingrid E Scheffer
Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.

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2013: Jillian Nicholl; Claire Pridmore; Shanna Suwalski; Elizabeth M Thompson; Suzanna Thompson; Wendy Waters; Sui Yu; Sharon M Bain; Christopher Barnett; Sue Brown; Damian Clark; John Entwistle; Kathryn Friend; Eric Haan; Michael G Harbord; Yvonne Hull; Jan Liebelt; Lesley McGregor; John C Mulley
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013;162(1):24-35.
2012: Leanne M Dibbens; Katherine L Helbig; Bree L Hodgson; John C Mulley; Karen L Oliver; Samuel F Berkovic; Ingrid E Scheffer
Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.
Epilepsy research 2012;101(3):277-9.
2012: Karl Martin Klein; John C Mulley; Terence J O'Brien; Kavita Praveen; Samuel F Berkovic; Simon Foote; Sarah E Heron; Ingrid E Scheffer
Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.
Epilepsia 2012;53(8):e151-5.
2012: Sarah E Heron; Bree L Hodgson; James N Hughes; Xenia Iona; Sara Kivity; Amos D Korczyn; John C Mulley; James T Pelekanos; Clair Pridmore; Lynette G Sadleir; Ingrid E Scheffer; Paul Q Thomas; Sameer M Zuberi; Zaid Afawi; Haim Bassan; Samuel F Berkovic; Mark Corbett; Alison E Gardner; Jozef Gecz; Hadassa Goldberg-Stern; Bronwyn E Grinton; Eric Haan; Eric Herlenius; Leanne M Dibbens
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
American journal of human genetics 2012;90(1):152-60.
2011: John C Mulley; Ingrid E Scheffer; Danya F Vears; Bronwyn E Grinton; Marta A Bayly; Samuel F Berkovic; Tarishi Desai; Leanne M Dibbens
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.
Epilepsia 2011;52(10):e139-42.
2011: Leanne M Dibbens; R Kneen; M A Bayly; Sarah E Heron; T Arsov; J A Damiano; T Desai; J Gibbs; F McKenzie; John C Mulley; A Ronan; Ingrid E Scheffer
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
Neurology 2011;76(17):1514-9.
2011: John C Mulley; Heather C Mefford
Epilepsy and the new cytogenetics.
Epilepsia 2011;52(3):423-32.
2011: John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Sarah E Heron; Bree Hodgson; Xenia Iona; Leanne M Dibbens
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.
Neurology research international 2011;2011():917565.
2010: Jacinta M McMahon; Ingrid E Scheffer; Jillian K Nicholl; Wendy Waters; Helen Eyre; Lyn Hinton; Paul Nelson; Sui Yu; Leanne M Dibbens; Samuel F Berkovic; John C Mulley
Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.
Epileptic disorders : international epilepsy journal with videotape 2010;12(3):192-8.
2010: Sarah E Heron; Ingrid E Scheffer; Bronwyn E Grinton; Helen Eyre; Karen L Oliver; Sharon Bain; Samuel F Berkovic; John C Mulley
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Epilepsia 2010;51(9):1865-9.
2010: Anne M McIntosh; Jacinta McMahon; Leanne M Dibbens; Xenia Iona; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.
Lancet neurology 2010;9(6):592-8.
2010: Sarah E Heron; Marta Hernandez; Caitlin Edwards; Edward Edkins; Floor E Jansen; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Epilepsia 2010;51(2):293-6.
2010: Sarah E Heron; Ingrid E Scheffer; Xenia Iona; Sameer M Zuberi; Rachael Birch; Jacinta M McMahon; Carla M Bruce; Samuel F Berkovic; John C Mulley
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Journal of medical genetics 2010;47(2):137-41.
2009: Leanne M Dibbens; Saul Mullen; Ingo Helbig; Heather C Mefford; Marta A Bayly; Susannah Bellows; Costin Leu; Holger Trucks; Tanja Obermeier; Michael Wittig; Andre Franke; Hande Caglayan; Zuhal Yapici; Thomas Sander; Evan E Eichler; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Human molecular genetics 2009;18(19):3626-31.
2009: John C Mulley; Leanne M Dibbens
Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.
Genome medicine 2009;1(3):33.
2008: Christopher P Derry; Sarah E Heron; Fiona Phillips; Stephen Howell; Jacinta MacMahon; Hilary A Phillips; John S Duncan; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
Epilepsia 2008;49(12):2125-9.
2008: Ingo Helbig; Nicholas A Matigian; Lata Vadlamudi; Kate M Lawrence; Marta A Bayly; Sharon M Bain; Dileepa Diyagama; Ingrid E Scheffer; John C Mulley; Andrew J Holloway; Leanne M Dibbens; Samuel F Berkovic; Nicholas K Hayward
Gene expression analysis in absence epilepsy using a monozygotic twin design.
Epilepsia 2008;49(9):1546-54.
2008: John C Mulley
Forty years from markers to genes.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2008;11(4):368-83.
2008: Jean-Charles Hoda; Wenli Gu; Marc Friedli; Hilary A Phillips; Sonia Bertrand; Stylianos E Antonarakis; David Goudie; Richard Roberts; Ingrid E Scheffer; Carla Marini; Jayesh Patel; Samuel F Berkovic; John C Mulley; Ortrud K Steinlein; Daniel Bertrand
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
Molecular pharmacology 2008;74(2):379-91.
2008: Ingrid E Scheffer; Samantha J Turner; Leanne M Dibbens; Marta A Bayly; Kathryn Friend; Bree Hodgson; Linda Burrows; Marie Shaw; Chen Wei; Reinhard Ullmann; Hans-Hilger Ropers; Pierre Szepetowski; Eric Haan; Aziz Mazarib; Zaid Afawi; Miri Y Neufeld; P Ian Andrews; Geoffrey Wallace; Sara Kivity; Dorit Lev; Tally Lerman-Sagie; Christopher P Derry; Amos D Korczyn; Jozef Gecz; John C Mulley; Samuel F Berkovic
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain : a journal of neurology 2008;131(Pt 4):918-27.
2008: Samuel F Berkovic; Leanne M Dibbens; Alicia Oshlack; Jeremy D Silver; Marina Katerelos; Danya F Vears; Renate Lüllmann-Rauch; Judith Blanz; Ke Wei Zhang; Jim Stankovich; Renate M Kalnins; John P Dowling; Eva Andermann; Frederick Andermann; Enrico Faldini; Rudi D'Hooge; Lata Vadlamudi; Richard A Macdonell; Bree L Hodgson; Marta A Bayly; Judy Savige; John C Mulley; Gordon K Smyth; David A Power; Paul Saftig; Melanie Bahlo
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
American journal of human genetics 2008;82(3):673-84.
2008: Ingo Helbig; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Navigating the channels and beyond: unravelling the genetics of the epilepsies.
Lancet neurology 2008;7(3):231-45.
2008: Robyn H Wallace; J L Freeman; M R Shouri; P A Izzillo; Jeffrey V Rosenfeld; John C Mulley; A Simon Harvey; Samuel F Berkovic
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.
Neurology 2008;70(8):653-5.
2007: Sarah E Heron; Houman Khosravani; Diego Varela; Christopher Bladen; Tristiana C Williams; Michelle R Newman; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley; Gerald W Zamponi
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Annals of neurology 2007;62(6):560-8.
2007: Sarah E Heron; K Cox; Bronwyn E Grinton; Sameer M Zuberi; S Kivity; Z Afawi; Rachel Straussberg; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
Journal of medical genetics 2007;44(12):791-6.
2007: Leanne M Dibbens; Jenny Ekberg; I Taylor; Bree L Hodgson; S-J Conroy; Ingrid L Lensink; Sharad Kumar; M A Zielinski; Louise A Harkin; Grant R Sutherland; David J Adams; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley; Philip Poronnik
NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.
Genes, brain, and behavior 2007;6(8):750-5.
2007: Heneu O Tan; Christopher A Reid; Frank N Single; Philip J Davies; Cindy Chiu; Susan Murphy; Alison L Clarke; Leanne M Dibbens; Heinz E Krestel; John C Mulley; Mathew V Jones; Peter H Seeburg; Bert Sakmann; Samuel F Berkovic; Rolf Sprengel; Steven Petrou
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(44):17536-41.
2007: Leanne M Dibbens; Sarah E Heron; John C Mulley
A polygenic heterogeneity model for common epilepsies with complex genetics.
Genes, brain, and behavior 2007;6(7):593-7.
2007: Isabella Taylor; Bree Hodgson; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic; Leanne M Dibbens
Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?
Epilepsia 2007;48(9):1807-9.
2007: Ruwei Xu; Evan A Thomas; Elena V Gazina; K L Richards; M Quick; Robyn H Wallace; Louise A Harkin; Sarah E Heron; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley; Steven Petrou
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Neuroscience 2007;148(1):164-74.
2007: Ruwei Xu; Evan A Thomas; Misty Jenkins; Elena V Gazina; Cindy Chiu; Sarah E Heron; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
Molecular and cellular neurosciences 2007;35(2):292-301.
2007: Eric Herlenius; Sarah E Heron; Bronwyn E Grinton; Deborah Keay; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
Epilepsia 2007;48(6):1138-42.
2007: Sarah E Heron; Louisa Sanchez; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Association studies and functional validation or functional validation alone?
Epilepsy research 2007;74(2-3):237-8.
2007: Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley
Channelopathies in idiopathic epilepsy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2007;4(2):295-304.
2007: Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne M Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Brain : a journal of neurology 2007;130(Pt 3):843-52.
2007: Allan F McRae; Nicholas A Matigian; Lata Vadlamudi; John C Mulley; Bryan J Mowry; Nicholas G Martin; Sam F Berkovic; Nicholas K Hayward; Peter M Visscher
Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines.
Human molecular genetics 2007;16(4):364-73.
2007: Ingrid E Scheffer; Louise A Harkin; Bronwyn E Grinton; Leanne M Dibbens; Samantha J Turner; Marta A Zielinski; Ruwei Xu; Graeme Jackson; Judith Adams; Mary Connellan; Steven Petrou; R Mark Wellard; Regula S Briellmann; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
Brain : a journal of neurology 2007;130(Pt 1):100-9.
2006: F E Jansen; Lynette G Sadleir; Louise A Harkin; Lata Vadlamudi; Jacinta M McMahon; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
Neurology 2006;67(12):2224-6.
2006: John C Mulley; P Nelson; S Guerrero; Leanne M Dibbens; Xenia Iona; Jacinta M McMahon; Louise A Harkin; J Schouten; S Yu; Samuel F Berkovic; Ingrid E Scheffer
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
Neurology 2006;67(6):1094-5.
2006: Samuel F Berkovic; John C Mulley; Ingrid E Scheffer; Steven Petrou
Human epilepsies: interaction of genetic and acquired factors.
Trends in neurosciences 2006;29(7):391-7.
2006: Samuel F Berkovic; Louise A Harkin; Jacinta M McMahon; James T Pelekanos; Sameer M Zuberi; Elaine Wirrell; Deepak S Gill; Xenia Iona; John C Mulley; Ingrid E Scheffer
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
Lancet neurology 2006;5(6):488-92.
2006: Nigel C K Tan; John C Mulley; Ingrid E Scheffer
Genetic dissection of the common epilepsies.
Current opinion in neurology 2006;19(2):157-63.
2006: Hua-Jun Feng; Jing-Qiong Kang; Luyan Song; Leanne M Dibbens; John C Mulley; Robert L Macdonald
Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(5):1499-506.
2005: John C Mulley; Ingrid E Scheffer; Louise A Harkin; Samuel F Berkovic; Leanne M Dibbens
Susceptibility genes for complex epilepsy.
Human molecular genetics 2005;14 Spec No. 2():R243-9.
2005: John C Mulley; Ingrid E Scheffer; Steven Petrou; Leanne M Dibbens; Samuel F Berkovic; Louise A Harkin
SCN1A mutations and epilepsy.
Human mutation 2005;25(6):535-42.
2005: Nigel C K Tan; Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
Epilepsia 2005;46(5):778-80.
2005: Samuel F Berkovic; Aziz Mazarib; Simri Walid; Miri Y Neufeld; Judith Manelis; Yoram Nevo; Amos D Korczyn; Jinggang Yin; Lan Xiong; Massimo Pandolfo; John C Mulley; Robyn H Wallace
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
Brain : a journal of neurology 2005;128(Pt 3):652-8.
2005: Ingrid E Scheffer; Louise A Harkin; Leanne M Dibbens; John C Mulley; Samuel F Berkovic
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
Epilepsia 2005;46 Suppl 10():41-7.
2004: Nigel C K Tan; John C Mulley; Samuel F Berkovic
Genetic association studies in epilepsy: "the truth is out there".
Epilepsia 2004;45(11):1429-42.
2004: Nigel C K Tan; Sarah E Heron; Ingrid E Scheffer; James T Pelekanos; Jacinta M McMahon; D F Vears; John C Mulley; Samuel F Berkovic
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy.
Neurology 2004;63(6):1090-2.
2004: Samuel F Berkovic; José M Serratosa; Hilary A Phillips; Lan Xiong; Eva Andermann; Fernando Díaz-Otero; Pilar Gómez-Garre; Mercedes Martín; Yolanda Fernández-Bullido; Frederick Andermann; Iscia Lopes-Cendes; Francois Dubeau; Richard Desbiens; Ingrid E Scheffer; Robyn H Wallace; John C Mulley; Massimo Pandolfo
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Epilepsia 2004;45(9):1054-60.
2004: Leanne M Dibbens; Hua-Jun Feng; Michaella C Richards; Louise A Harkin; Bree L Hodgson; Darren Scott; Misty Jenkins; Steven Petrou; Grant R Sutherland; Ingrid E Scheffer; Samuel F Berkovic; Robert L Macdonald; John C Mulley
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
Human molecular genetics 2004;13(13):1315-9.
2004: Carla Marini; Ingrid E Scheffer; Kathryn M Crossland; Bronwyn E Grinton; Fiona L Phillips; Jacinta M McMahon; Samantha J Turner; Joanne T Dean; Sara Kivity; Aziz Mazarib; Miri Y Neufeld; Amos D Korczyn; Louise A Harkin; Leanne M Dibbens; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Epilepsia 2004;45(5):467-78.
2004: Samuel F Berkovic; P Izzillo; Jacinta M McMahon; Louise A Harkin; Anne M McIntosh; Hilary A Phillips; Regula S Briellmann; Robyn H Wallace; Aziz Mazarib; Miri Y Neufeld; Amos D Korczyn; Ingrid E Scheffer; John C Mulley
LGI1 mutations in temporal lobe epilepsies.
Neurology 2004;62(7):1115-9.
2004: Sarah E Heron; Hilary A Phillips; John C Mulley; Aziz Mazarib; Miri Y Neufeld; Samuel F Berkovic; Ingrid E Scheffer
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Annals of neurology 2004;55(4):595-6.
2004: Samuel F Berkovic; Sarah E Heron; Lucio Giordano; Carla Marini; Renzo Guerrini; Robert E Kaplan; Antonio Gambardella; Ortrud K Steinlein; Bronwyn E Grinton; Joanne T Dean; Laura Bordo; Bree L Hodgson; Toshiyuki Yamamoto; John C Mulley; Federico Zara; Ingrid E Scheffer
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Annals of neurology 2004;55(4):550-7.
2004: Michaella C Richards; Sarah E Heron; Hayley E Spendlove; Ingrid E Scheffer; Bronwyn E Grinton; Samuel F Berkovic; John C Mulley; A Davy
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
Journal of medical genetics 2004;41(3):e35.
2004: Kavita Bhalla; Hilary A Phillips; Joanna Crawford; Olivia L D McKenzie; John C Mulley; Helen Eyre; Alison E Gardner; Gabriel Kremmidiotis; David F Callen
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
Journal of human genetics 2004;49(6):308-11.
2003: Robyn H Wallace; Bree L Hodgson; Bronwyn E Grinton; R M Gardiner; R Robinson; V Rodriguez-Casero; Lynette G Sadleir; J Morgan; Louise A Harkin; Leanne M Dibbens; T Yamamoto; Eva Andermann; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
Neurology 2003;61(6):765-9.
2003: Agi K Gedeon; John Nelson; Jozef Gécz; John C Mulley
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
American journal of medical genetics. Part A 2003;120A(4):509-17.
2003: Ailsa McLellan; Hilary A Phillips; Christopher Rittey; Martin Kirkpatrick; John C Mulley; David R Goudie; John B P Stephenson; John Tolmie; Ingrid E Scheffer; Samuel F Berkovic; Sameer M Zuberi
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
Epilepsia 2003;44(4):613-7.
2003: John C Mulley; Ingrid E Scheffer; Steven Petrou; Samuel F Berkovic
Channelopathies as a genetic cause of epilepsy.
Current opinion in neurology 2003;16(2):171-6.
2003: Gillian Turner; Agi K Gedeon; Bronwyn Kerr; Rachael Bennett; John C Mulley; Michael Partington
Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.
American journal of medical genetics. Part A 2003;117A(3):245-50.
2003: Carla Marini; Louise A Harkin; Robyn H Wallace; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.
Brain : a journal of neurology 2003;126(Pt 1):230-40.
2002: Karen M Lower; Gillian Turner; Bronwyn A Kerr; Katherine D Mathews; Marie A Shaw; Agi K Gedeon; Susan Schelley; H Eugene Hoyme; Susan M White; Martin B Delatycki; Anne K Lampe; Jill Clayton-Smith; Helen Stewart; Conny M A van Ravenswaay; Bert B A de Vries; Barbara Cox; Markus Grompe; Shelley Ross; Paul Thomas; John C Mulley; Jozef Gécz
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Nature genetics 2002;32(4):661-5.
2002: David N Bowser; David A Wagner; Cynthia Czajkowski; Brett A Cromer; Michael W Parker; Robyn H Wallace; Louise A Harkin; John C Mulley; Carla Marini; Samuel F Berkovic; David A Williams; Mathew V Jones; Steven Petrou
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(23):15170-5.
2002: Sarah E Heron; Kathryn M Crossland; Eva Andermann; Hilary A Phillips; Allison J Hall; Andrew F Bleasel; Michael Shevell; Suha Mercho; Marie-Hélène Seni; Marie-Christine Guiot; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Sodium-channel defects in benign familial neonatal-infantile seizures.
Lancet 2002;360(9336):851-2.
2002: Ingrid E Scheffer; Robyn H Wallace; Fiona L Phillips; P Hewson; K Reardon; G Parasivam; P Stromme; Samuel F Berkovic; Jozef Gecz; John C Mulley
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
Neurology 2002;59(3):348-56.
2002: Robyn H Wallace; Ingrid E Scheffer; G Parasivam; S Barnett; G B Wallace; Grant R Sutherland; Samuel F Berkovic; John C Mulley
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
Neurology 2002;58(9):1426-9.
2002: Petter Strømme; Marie Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nature genetics 2002;30(4):441-5.
2002: Louise A Harkin; David N Bowser; Leanne M Dibbens; Rita Singh; Fiona L Phillips; Robyn H Wallace; Michaella C Richards; David A Williams; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Steven Petrou
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
American journal of human genetics 2002;70(2):530-6.
2001: Agi K Gedeon; George E Tiller; Martine Le Merrer; Solange Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; Ravi Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; Arnold Munnich; Jozef Gecz; John C Mulley
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics 2001;68(6):1386-97.
2001: Robyn H Wallace; Carla Marini; Steven Petrou; Louise A Harkin; David N Bowser; Rekha G Panchal; David A Williams; Grant R Sutherland; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
Nature genetics 2001;28(1):49-52.
2001: Robyn H Wallace; Ingrid E Scheffer; S Barnett; M Richards; Leanne M Dibbens; R R Desai; Tally Lerman-Sagie; D Lev; Aziz Mazarib; N Brand; Bruria Ben-Zeev; Igor Goikhman; Rita Singh; Gabriel Kremmidiotis; Alison Gardner; Grant R Sutherland; A L George; John C Mulley; Samuel F Berkovic
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
American journal of human genetics 2001;68(4):859-65.
2001: Hilary A Phillips; I Favre; Martin Kirkpatrick; Sameer M Zuberi; David R Goudie; Sarah E Heron; Ingrid E Scheffer; Grant R Sutherland; Samuel F Berkovic; D Bertrand; John C Mulley
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
American journal of human genetics 2001;68(1):225-31.
2000: Jean-Pierre Fryns; Martine Borghgraef; T W Brown; Jamel Chelly; Gene S Fisch; Ben Hamel; André Hanauer; D Lacombe; L Luo; J N MacPherson; J L Mandel; Claude Moraine; John C Mulley; D Nelson; B Oostra; Michael Partington; G J Ramakers; Hans-Hilger Ropers; Francois Rousseau; C Schwartz; P Steinbach; claude stoll; L Tranebjaerg; Gillian Turner; Hans van Bokhoven; A Vianna-Morgante
9th international workshop on fragile X syndrome and X-linked mental retardation.
American journal of medical genetics 2000;94(5):345-60.
2000: Jozef Gécz; M A Hillman; Agi K Gedeon; T C Cox; Elizabeth Baker; John C Mulley
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
Genomics 2000;69(2):242-51.
2000: Hilary A Phillips; Carla Marini; Ingrid E Scheffer; Grant R Sutherland; John C Mulley; Samuel F Berkovic
A de novo mutation in sporadic nocturnal frontal lobe epilepsy.
Annals of neurology 2000;48(2):264-7.
2000: Ingrid E Scheffer; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Locus for febrile seizures.
Annals of neurology 2000;47(6):840-1.
1999: Jozef Gécz; S Barnett; J Liu; Georgina Hollway; Andrew Donnelly; Helen Eyre; H S Eshkevari; R Baltazar; Adina Grunn; R Nagaraja; C Gilliam; L Peltonen; Grant R Sutherland; M Baron; John C Mulley
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.
Genomics 1999;62(3):356-68.
1999: Agi K Gedeon; A Colley; R Jamieson; E M Thompson; J Rogers; David Sillence; George E Tiller; John C Mulley; Jozef Gécz
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
Nature genetics 1999;22(4):400-4.
1999: Karine Merienne; Sylvie Jacquot; Solange Pannetier; Maria Zeniou; A Bankier; Jozef Gecz; Jean-Louis Mandel; John C Mulley; Paolo Sassone-Corsi; André Hanauer
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
Nature genetics 1999;22(1):13-4.
1999: Agi K Gedeon; C Oley; John Nelson; Gillian Turner; John C Mulley
Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.
American journal of medical genetics 1999;82(4):352-4.
1999: Jozef Gecz; John C Mulley
Characterisation and expression of a large, 13.7 kb FMR2 isoform.
European journal of human genetics : EJHG 1999;7(2):157-62.
1999: Jozef Gecz; Elizabeth Baker; A Donnelly; Jeffrey E Ming; Donna M McDonald-McGinn; Nancy B Spinner; E H Zackai; Grant R Sutherland; John C Mulley
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
Human genetics 1999;104(1):56-63.
1998: Ingrid E Scheffer; Hilary A Phillips; C E O'Brien; Michael M Saling; Jacquie A Wrennall; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2.
Annals of neurology 1998;44(6):890-9.
1998: Hilary A Phillips; Ingrid E Scheffer; Kathryn M Crossland; K P Bhatia; D R Fish; CD Marsden; S J Howell; John B P Stephenson; John Tolmie; G Plazzi; Orvar Eeg-Olofsson; Rita Singh; Iscia Lopes-Cendes; Eva Andermann; Frederick Andermann; Samuel F Berkovic; John C Mulley
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
American journal of human genetics 1998;63(4):1108-16.
1998: Georgina Hollway; John C Mulley
Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.
Clinical genetics 1998;54(2):152-4.
1998: Robyn H Wallace; D W Wang; Rita Singh; Ingrid E Scheffer; A L George; Hilary A Phillips; Kathrin Saar; A Reis; E W Johnson; Grant R Sutherland; Samuel F Berkovic; John C Mulley
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
Nature genetics 1998;19(4):366-70.
1998: John C Mulley; Kathrin Saar; G Hewitt; Franz Rüschendorf; H Phillips; A Colley; David Sillence; A Reis; M Wilson
Gene localization for an autosomal dominant familial periodic fever to 12p13.
American journal of human genetics 1998;62(4):884-9.
1998: Georgina Hollway; Graeme Suthers; K M Battese; A M Turner; David J David; John C Mulley
Deafness due to Pro250Arg mutation of FGFR3.
Lancet 1998;351(9106):877-8.
1998: Andrew Donnelly; Eric A Haan; J Manson; John C Mulley
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.
Human mutation 1998;11(4):334.
1997: Jozef Gecz; S Bielby; Grant R Sutherland; John C Mulley
Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.
Genomics 1997;44(2):201-13.
1997: Jozef Gécz; B A Oostra; A Hockey; P Carbonell; Gillian Turner; Eric A Haan; Grant R Sutherland; John C Mulley
FMR2 expression in families with FRAXE mental retardation.
Human molecular genetics 1997;6(3):435-41.
1997: Maximilian Muenke; Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; Richard Markowitz; N H Robin; NA Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; Georgina Hollway; Lesley C Adès; Eric A Haan; John C Mulley; M M Cohen; GA Bellus; Clair A Francomano; DM Moloney; Steven A Wall; Andrew O M Wilkie
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American journal of human genetics 1997;60(3):555-64.
1997: Hilary A Phillips; John C Mulley
SSCP variants within the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor gene.
Clinical genetics 1997;51(2):135-6.
1997: Georgina Hollway; Graeme Suthers; Eric A Haan; E Thompson; David J David; Jozef Gecz; John C Mulley
Mutation detection in FGFR2 craniosynostosis syndromes.
Human genetics 1997;99(2):251-5.
1996: G R Sutherland; John C Mulley
Fragile X syndrome and fragile XE mental retardation.
Prenatal diagnosis 1996;16(13):1199-211.
1996: Agi K Gedeon; A J Donnelly; John C Mulley; B Kerr; G Turner
How many X-linked genes for non-specific mental retardation (MRX) are there?
American journal of medical genetics 1996;64(1):158-62.
1996: Agi K Gedeon; I A Glass; J M Connor; John C Mulley
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation.
American journal of medical genetics 1996;64(1):121-4.
1996: A J Donnelly; M W Partington; A K Ryan; John C Mulley
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31).
American journal of medical genetics 1996;64(1):113-20.
1996: Agi K Gedeon; John C Mulley; Eric A Haan
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
American journal of medical genetics 1996;64(1):78-9.
1996: Agi K Gedeon; H M Kozman; H Robinson; G Pilia; David Schlessinger; G Turner; John C Mulley
Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome.
American journal of medical genetics 1996;64(1):63-8.
1996: Jozef Gecz; Agi K Gedeon; G R Sutherland; John C Mulley
Identification of the gene FMR2, associated with FRAXE mental retardation.
Nature genetics 1996;13(1):105-8.
1996: Robyn H Wallace; S F Berkovic; R A Howell; G R Sutherland; John C Mulley
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
Journal of medical genetics 1996;33(4):308-12.
1996: A Donnelly; A Colley; D Crimmins; John C Mulley
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
Human mutation 1996;8(4):384-5.
1995: Iscia Lopes-Cendes; Hilary A Phillips; Ingrid E Scheffer; John C Mulley; R Desbiens; Eva Andermann; F Cendes; S Verret; Frederick Andermann; S F Berkovic
Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.
Epilepsy research 1995;22(3):227-33.
1995: Ortrud K Steinlein; John C Mulley; Peter Propping; Robyn H Wallace; Hilary A Phillips; G R Sutherland; Ingrid E Scheffer; S F Berkovic
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Nature genetics 1995;11(2):201-3.
1995: Hilary A Phillips; Ingrid E Scheffer; S F Berkovic; Georgina Hollway; G R Sutherland; John C Mulley
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.
Nature genetics 1995;10(1):117-8.
1995: Agi K Gedeon; M J Wilson; A C Colley; David Sillence; John C Mulley
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
Journal of medical genetics 1995;32(5):383-8.
1995: Georgina Hollway; Hilary A Phillips; Lesley C Adès; Eric A Haan; John C Mulley
Localization of craniosynostosis Adelaide type to 4p16.
Human molecular genetics 1995;4(4):681-3.
1995: Agi K Gedeon; M Meinänen; Lesley C Adès; H Kääriäinen; Jozef Gécz; Elizabeth Baker; G R Sutherland; John C Mulley
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.
American journal of human genetics 1995;56(4):907-14.
1995: John C Mulley; S Yu; Danuta Z Loesch; D A Hay; A Donnelly; Agi K Gedeon; P Carbonell; I López; G Glover; I Gabarrón
FRAXE and mental retardation.
Journal of medical genetics 1995;32(3):162-9.
1994: Hilary A Phillips; S C Gerken; John C Mulley; Raymond White
Ten microsatellite polymorphisms mapped to chromosome 16.
Human molecular genetics 1994;3(11):2078.
1994: M J Edwards; C J Challinor; P W Colley; J Roberts; M W Partington; G E Hollway; H M Kozman; John C Mulley
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
American journal of medical genetics 1994;53(1):65-71.
1994: Agi K Gedeon; John C Mulley; H Kozman; A Donnelly; M W Partington
Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.
American journal of medical genetics 1994;52(1):75-8.
1994: A J Donnelly; K H Choo; H M Kozman; Agi K Gedeon; D M Danks; John C Mulley
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22.
American journal of medical genetics 1994;51(4):581-5.
1994: Agi K Gedeon; M Partington; John C Mulley
X-linked mental retardation with dystonic movements of the hands (PRTS): revisited.
American journal of medical genetics 1994;51(4):565-8.
1994: Agi K Gedeon; B Kerr; John C Mulley; G Turner
Pericentromeric genes for non-specific X-linked mental retardation (MRX).
American journal of medical genetics 1994;51(4):553-64.
1994: Danuta Z Loesch; D A Hay; John C Mulley
Transmitting males and carrier females in fragile X--revisited.
American journal of medical genetics 1994;51(4):392-9.
1994: Lesley C Adès; John C Mulley; I P Senga; L L Morris; David J David; Eric A Haan
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter.
American journal of medical genetics 1994;51(2):121-30.
1994: A Donnelly; H Kozman; Agi K Gedeon; S Webb; M Lynch; G R Sutherland; Robert I Richards; John C Mulley
A linkage map of microsatellite markers on the human X chromosome.
Genomics 1994;20(3):363-70.
1993: Danuta Z Loesch; Richard M Huggins; D A Hay; Agi K Gedeon; John C Mulley; G R Sutherland
Genotype-phenotype relationships in fragile X syndrome: a family study.
American journal of human genetics 1993;53(5):1064-73.
1993: B K Hecht; A Donnelly; Agi K Gedeon; R W Byard; Eric A Haan; John C Mulley
Direct molecular diagnosis of myotonic dystrophy.
Clinical genetics 1993;43(6):276-85.
1993: John C Mulley; G R Sutherland
Integrating maps of chromosome 16.
Current opinion in genetics & development 1993;3(3):425-31.
1993: David F Callen; A D Thompson; Y Shen; Hilary A Phillips; Robert I Richards; John C Mulley; G R Sutherland
Incidence and origin of "null" alleles in the (AC)n microsatellite markers.
American journal of human genetics 1993;52(5):922-7.
1993: Hannah M Mitchison; A D Thompson; John C Mulley; H M Kozman; Robert I Richards; David F Callen; R L Stallings; Norman A Doggett; J Attwood; T R McKay
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
Genomics 1993;16(2):455-60.
1993: G R Sutherland; John C Mulley; Robert I Richards
Fragile X syndrome. The most common cause of familial intellectual handicap.
The Medical journal of Australia 1993;158(7):482-5.
1993: Lesley C Adès; Agi K Gedeon; M J Wilson; M Latham; M W Partington; John C Mulley; J Nelson; K Lui; D O Sillence
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
American journal of medical genetics 1993;45(3):327-34.
1993: John C Mulley; H M Kozman; Hilary A Phillips; Agi K Gedeon; J A McCure; D E Iles; Ronald G Gregg; K Hogan; Fergus J. Couch; D H MacLennan
Refined genetic localization for central core disease.
American journal of human genetics 1993;52(2):398-405.
1993: John C Mulley; A Staples; A Donnelly; Agi K Gedeon; B K Hecht; G A Nicholson; Eric A Haan; G R Sutherland
Explanation for exclusive maternal origin for congenital form of myotonic dystrophy.
Lancet 1993;341(8839):236-7.
1993: H M Kozman; Hilary A Phillips; David F Callen; G R Sutherland; John C Mulley
Integration of the cytogenetic and genetic linkage maps of human chromosome 16 using 50 physical intervals and 50 polymorphic loci.
Cytogenetics and cell genetics 1993;62(4):194-8.
1993: Hilary A Phillips; A D Thompson; H M Kozman; G R Sutherland; John C Mulley
A microsatellite marker within the duplicated D16S79 locus has a null allele; significance for linkage mapping.
Cytogenetics and cell genetics 1993;64(2):131-2.
1993: Hannah M Mitchison; R E Williams; T R McKay; David F Callen; A D Thompson; John C Mulley; R L Stallings; C E Hildebrand; R K Moyzis; Irma Järvelä
Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16.
Journal of inherited metabolic disease 1993;16(2):339-41.
1992: Alan H Beggs; H A Phillips; H Kozman; John C Mulley; S D Wilton; Louis Kunkel; Nigel G Laing
A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.
Genomics 1992;13(4):1314-5.
1992: John C Mulley; A M Turner; Agi K Gedeon; V A Berdoukas; T H Huang; David Ledbetter; H Grierson; D T Purtilo
X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.
Clinical genetics 1992;42(2):76-9.
1992: John C Mulley; S Yu; Agi K Gedeon; A Donnelly; G Turner; Danuta Z Loesch; C J Chapman; R J Gardner; Robert I Richards; G R Sutherland
Experience with direct molecular diagnosis of fragile X.
Journal of medical genetics 1992;29(6):368-74.
1992: S Yu; John C Mulley; Danuta Z Loesch; G Turner; A Donnelly; Agi K Gedeon; D Hillen; E Kremer; M Lynch; M Pritchard
Fragile-X syndrome: unique genetics of the heritable unstable element.
American journal of human genetics 1992;50(5):968-80.
1992: John C Mulley; Agi K Gedeon; S Wilson; Eric A Haan
Use of linkage data obtained in single families: prenatal diagnosis of a new X-linked mental retardation syndrome.
American journal of medical genetics 1992;43(1-2):415-9.
1992: John C Mulley; B Kerr; R Stevenson; H Lubs
Nomenclature guidelines for X-linked mental retardation.
American journal of medical genetics 1992;43(1-2):383-91.
1992: Agi K Gedeon; K Holman; Robert I Richards; John C Mulley
Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci.
American journal of medical genetics 1992;43(1-2):255-60.
1991: Hilary A Phillips; P Harris; Robert I Richards; G R Sutherland; John C Mulley
Dinucleotide repeat polymorphisms at the D16S164, D16S168 and D16S186 loci at 16q21-q22.1.
Nucleic acids research 1991;19(24):6964.
1991: G R Sutherland; Agi K Gedeon; L Kornman; A Donnelly; R W Byard; John C Mulley; E Kremer; M Lynch; M Pritchard; S Yu
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.
The New England journal of medicine 1991;325(24):1720-2.
1991: Hilary A Phillips; V J Hyland; K Holman; David F Callen; Robert I Richards; John C Mulley
Dinucleotide repeat polymorphism at D16S287.
Nucleic acids research 1991;19(23):6664.
1991: Robert I Richards; K Holman; H Kozman; E Kremer; M Lynch; M Pritchard; S Yu; John C Mulley; G R Sutherland
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
Journal of medical genetics 1991;28(12):818-23.
1991: H M Kozman; Agi K Gedeon; Scott A Whitmore; Graeme Suthers; David F Callen; G R Sutherland; John C Mulley
Addition of MT, D16S10, D16S4, and D16S91 to the linkage map within 16q12.1-q22.1.
Genomics 1991;11(3):756-9.
1991: A K Gedeon; Robert I Richards; John C Mulley
Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26.
Nucleic acids research 1991;19(18):5087.
1991: J A McCure; I R Phillips; E A Shephard; John C Mulley
An XmnI RFLP for CYP2A on chromosome 19.
Nucleic acids research 1991;19(18):5089.
1991: John C Mulley; Agi K Gedeon; S J White; Eric A Haan; Robert I Richards
Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
Journal of medical genetics 1991;28(7):448-52.
1991: Graeme Suthers; John C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Linkage homogeneity near the fragile X locus in normal and fragile X families.
Genomics 1991;10(3):576-82.
1991: Robert I Richards; Y Shen; K Holman; H Kozman; V J Hyland; John C Mulley; G R Sutherland
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
American journal of human genetics 1991;48(6):1051-7.
1991: Agi K Gedeon; B Kerr; John C Mulley; G Turner
Localisation of the MRX3 gene for non-specific X linked mental retardation.
Journal of medical genetics 1991;28(6):372-7.
1991: S Yu; M Pritchard; E Kremer; M Lynch; J Nancarrow; Elizabeth Baker; K Holman; John C Mulley; Stephen Warren; David Schlessinger
Fragile X genotype characterized by an unstable region of DNA.
Science (New York, N.Y.) 1991;252(5009):1179-81.
1991: Graeme Suthers; John C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.
American journal of human genetics 1991;48(3):460-7.
1991: Michael J Dixon; Eric A Haan; E Baker; D David; N McKenzie; R Williamson; John C Mulley; M Farrall; D Callen
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.
American journal of human genetics 1991;48(2):274-80.
1991: Graeme Suthers; I Oberlé; J Nancarrow; John C Mulley; V J Hyland; P J Wilson; J McCure; C P Morris; J J Hopwood; J L Mandel
Genetic mapping of new RFLPs at Xq27-q28.
Genomics 1991;9(1):37-43.
1990: S Yu; Graeme Suthers; John C Mulley
A BclI RFLP for DXS296 (VK21) near the fragile X.
Nucleic acids research 1990;18(3):690.
1990: John C Mulley; N Barton; David F Callen
Localisation of human PGP and HAGH genes to 16p13.3.
Cytogenetics and cell genetics 1990;53(2-3):175-6.
1990: G R Sutherland; John C Mulley
Diagnostic molecular genetics of the fragile X.
Clinical genetics 1990;37(1):2-11.
1989: R D Kimber; V J Hyland; Eric A Haan; John C Mulley
Deletion analysis for Duchenne (and Becker) muscular dystrophy.
Australian paediatric journal 1989;25(5):292-5.
1989: A K Gedeon; John C Mulley; M H Breuning
XmnI, HincII and BclI RFLPs at D16S79.
Nucleic acids research 1989;17(12):4905.
1989: John C Mulley; V J Hyland; A Fratini; L J Bates; A K Gedeon; G R Sutherland
A linkage group with FRA16B (the fragile site at 16q22.1).
Human genetics 1989;82(2):131-3.
1989: G K Suthers; J I Manson; L M Stern; Eric A Haan; John C Mulley
Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.
Journal of medical genetics 1989;26(4):251-4.
1989: David F Callen; V J Hyland; E G Baker; A Fratini; A K Gedeon; John C Mulley; K E Fernandez; M H Breuning; G R Sutherland
Mapping the short arm of human chromosome 16.
Genomics 1989;4(3):348-54.
1989: A K Gedeon; John C Mulley; A Fratini
An MspI RFLP at D16S10.
Nucleic acids research 1989;17(5):2146.
1988: L J Bates; John C Mulley
A BamHI RFLP at MT2A on human chromosome 16.
Nucleic acids research 1988;16(18):9071.
1988: G R Sutherland; A K Gedeon; Eric A Haan; P Woodroffe; John C Mulley
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
American journal of medical genetics 1988;30(1-2):493-508.
1988: Graeme Suthers; G Turner; John C Mulley
A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.
American journal of medical genetics 1988;30(1-2):485-91.
1988: John C Mulley; G Turner; S Bain; G R Sutherland
Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).
American journal of medical genetics 1988;30(1-2):567-80.
1988: John C Mulley; Eric A Haan; Leslie J Sheffield; G R Sutherland
Recombination frequencies between Duchenne muscular dystrophy and intragenic markers in multigeneration families.
Human genetics 1988;78(3):296-7.
1988: John C Mulley; P C Norman; P Tippett; R W Beal
A regional localisation for an X-linked suppressor gene (XS) for the Lutheran blood group.
Human genetics 1988;78(2):127-9.
1988: David F Callen; V J Hyland; E G Baker; A Fratini; R N Simmers; John C Mulley; G R Sutherland
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16.
Genomics 1988;2(2):144-53.
1988: John C Mulley; A K Gedeon; Eric A Haan; Leslie J Sheffield; S J White; L J Bates; E F Robertson; G R Sutherland
Application of DNA probes to carrier detection and prenatal diagnosis of Duchenne (and Becker) muscular dystrophy.
Australian paediatric journal 1988;24 Suppl 1():92-7.
1987: R N Simmers; John C Mulley; V J Hyland; David F Callen; G R Sutherland
Mapping the human alpha globin gene complex to 16p13.2----pter.
Journal of medical genetics 1987;24(12):761-6.
1987: David F Callen; John C Mulley; E G Baker; G R Sutherland
Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences.
Human genetics 1987;77(3):236-40.
1987: G R Sutherland; S Reeders; V J Hyland; David F Callen; A Fratini; John C Mulley
Molecular genetics of human chromosome 16.
Journal of medical genetics 1987;24(8):451-6.
1987: John C Mulley; A K Gedeon; K A Thorn; L J Bates; G R Sutherland
Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14.
American journal of medical genetics 1987;27(2):435-48.