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John Vincent

Research Profile

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Chromosomes, Human, Pair 7

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Pakistan

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TOP 3
A K Vincent; John B Vincent; A Noor; M Ayub; A Janson; B A Minassian; C F Morel
Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.
Muzammil Ahmad Khan; Roland Malli; Abdul Noor; Muhammad Arshad Rafiq; Verena Rupp; Akshita K Vincent; Rosanna Weksberg; Christian Windpassinger; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Dan Doherty; Joana Vieira Flores; Michaela Frye; Shobbir Hussain; Shahnaz Ibrahim; Gisele E Ishak; Falak Sher Khan; John B Vincent
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Muhammad Arshad Rafiq; Annapoorani Ramiah; Hans-Hilger Ropers; Andreas Tzschach; Reinhard Ullmann; John B Vincent; Rosanna Weksberg; Yong Xiang; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Masoud Garshasbi; Hao Hu; Gisele E Ishak; Kimia Kahrizi; Nadir Ali Kerio; Muzammil Ahmad Khan; Andreas W Kuss; Khalid Mahmood; Kelley W Moremen; Farooq Naeem; Abdul Noor; Lucia Püttmann; Hossein Najmabadi
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

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All Publications

2012: A K Vincent; John B Vincent; A Noor; M Ayub; A Janson; B A Minassian; C F Morel
Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.
Clinical genetics 2012;82(6):540-5.
2012: Muzammil Ahmad Khan; Roland Malli; Abdul Noor; Muhammad Arshad Rafiq; Verena Rupp; Akshita K Vincent; Rosanna Weksberg; Christian Windpassinger; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Dan Doherty; Joana Vieira Flores; Michaela Frye; Shobbir Hussain; Shahnaz Ibrahim; Gisele E Ishak; Falak Sher Khan; John B Vincent
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
American journal of human genetics 2012;90(5):856-63.
2011: Muhammad Arshad Rafiq; Annapoorani Ramiah; Hans-Hilger Ropers; Andreas Tzschach; Reinhard Ullmann; John B Vincent; Rosanna Weksberg; Yong Xiang; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Masoud Garshasbi; Hao Hu; Gisele E Ishak; Kimia Kahrizi; Nadir Ali Kerio; Muzammil Ahmad Khan; Andreas W Kuss; Khalid Mahmood; Kelley W Moremen; Farooq Naeem; Abdul Noor; Lucia Püttmann; Hossein Najmabadi
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
American journal of human genetics 2011;89(1):176-82.
2011: Muzammil Ahmad Khan; Muhammad Arshad Rafiq; Abdul Noor; Nadir Ali; Ghazanfar Ali; John B Vincent; Muhammad Ansar
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
BMC medical genetics 2011;12():56.
2010: Gabriela Novak; Clement Zai; M Mirkhani; Sajid Shaikh; John B Vincent; Herbert Y Meltzer; Jeffrey A Lieberman; John Strauss; D Lévesque; James L Kennedy; Bernard Le Foll
Replicated association of the NR4A3 gene with smoking behaviour in schizophrenia and in bipolar disorder.
Genes, brain, and behavior 2010;9(8):910-7.
2010: M A Rafiq; M Ansar; C R Marshall; A Noor; N Shaheen; Alireza Mowjoodi; M A Khan; G Ali; M Amin-ud-Din; Lars Feuk; John B Vincent; Stephen W Scherer
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
Clinical genetics 2010;78(5):478-83.
2010: Darya Gaysina; Sarah Cohen-Woods; Philip C Chow; Livia Martucci; Alexandra Schosser; Harriet A Ball; Federica Tozzi; Julia Perry; Pierandrea Muglia; James L Kennedy; Nicole King; John B Vincent; Sagar V Parikh; John Strauss; Ian W Craig; Peter McGuffin; Anne Farmer
Association analysis of DAOA and DAO in bipolar disorder: results from two independent case-control studies.
Bipolar disorders 2010;12(5):579-81.
2009: Asif Mir; Liana Kaufman; Abdul Noor; Mahdi M Motazacker; Talal Jamil; Matloob Azam; Kimia Kahrizi; Muhammad Arshad Rafiq; Rosanna Weksberg; Tanveer Nasr; Farooq Naeem; Andreas Tzschach; Andreas W Kuss; Gisele E Ishak; Dan Doherty; H Hilger Ropers; A James Barkovich; Hossein Najmabadi; Muhammad Ayub; John B Vincent
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
American journal of human genetics 2009;85(6):909-15.
2009: John B Vincent; Abdul Noor; Christian Windpassinger; Peter J Gianakopoulos; Thomas Schwarzbraun; Simon E Alfred; Beata Stachowiak; Stephen W Scherer; Wendy Roberts; Klaus Wagner; Peter M Kroisel; Erwin Petek
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):817-26.
2009: Abdul Noor; Christian Windpassinger; Irina Vitcu; Marija Orlic; Muhammad Arshad Rafiq; Mahwish Khalid; Mahmood Nasir Malik; Muhammad Ayub; Benjamin Alman; John B Vincent
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
American journal of human genetics 2009;84(4):519-23.
2008: John B Vincent; Sanaa Choufani; Shin-ichi Horike; Beata Stachowiak; Martin Li; Fred J Dill; Christian Marshall; Monica Hrynchak; Elizabeth Pewsey; Kennedy C Ukadike; Jan M Friedman; Anand K Srivastava; Stephen W Scherer
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Psychiatric genetics 2008;18(3):101-9.
2008: Abdul Noor; Christian Windpassinger; Megha Patel; Beata Stachowiak; Anna Mikhailov; Matloob Azam; Muhammad Irfan; Zahid Kamal Siddiqui; Farooq Naeem; Andrew D Paterson; Muhammad Lutfullah; John B Vincent; Muhammad Ayub
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
American journal of human genetics 2008;82(4):1011-8.
2008: Christian Windpassinger; Benedikt Schoser; Volker Straub; Sonja Hochmeister; Abdul Noor; Birgit Lohberger; Natalie Farra; Erwin Petek; Thomas Schwarzbraun; Lisa Ofner; Wolfgang N Löscher; Klaus Wagner; Hanns Lochmüller; John B Vincent; Stefan Quasthoff
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
American journal of human genetics 2008;82(1):88-99.
2007: Albert K Mensah; Vincenzo De Luca; Beata Stachowiak; Abdul Noor; Christian Windpassinger; Stephen T S Lam; James L Kennedy; Stephen W Scherer; Ivan F M Lo; John B Vincent
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Schizophrenia research 2007;95(1-3):228-35.
2007: Chris G Harvey; Sailesh D Menon; Beata Stachowiak; Abdul Noor; Adam Proctor; Albert K Mensah; Gevork N Mnatzakanian; Simon E Alfred; Ray Guo; Stephen W Scherer; James L Kennedy; Wendy Roberts; Anand K Srivastava; Anand K Srivistava; Berge A Minassian; John B Vincent
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):355-60.
2007: Erwin Petek; Thomas Schwarzbraun; Abdul Noor; Megha Patel; Kazuhiko Nakabayashi; Sanaa Choufani; Christian Windpassinger; Mara Stamenkovic; Mary M Robertson; Harald N Aschauer; Hugh M D Gurling; Peter M Kroisel; Klaus Wagner; Stephen W Scherer; John B Vincent
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Molecular genetics and genomics : MGG 2007;277(1):71-81.
2006: Lars Feuk; Aino Kalervo; Marita Lipsanen-Nyman; Jennifer Skaug; Kazuhiko Nakabayashi; Brenda Finucane; Danielle Hartung; Micheil Innes; Batsheva Kerem; Malgorzata J M Nowaczyk; Joseph Rivlin; Wendy Roberts; Lili Senman; Anne Summers; Peter Szatmari; Virginia Wong; John B Vincent; Susan Zeesman; Lucy Osborne; Janis Oram Cardy; Juha Kere; Stephen W Scherer; Katariina Hannula-Jouppi
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
American journal of human genetics 2006;79(5):965-72.
2006: Thomas Schwarzbraun; Christian Windpassinger; Lisa Ofner; John B Vincent; Joseph Cheung; Stephen W Scherer; Klaus Wagner; Peter M Kroisel; Erwin Petek
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
European journal of medical genetics 2006;49(4):338-45.
2006: John B Vincent; Shin-ichi Horike; Sanaa Choufani; Andrew D Paterson; Wendy Roberts; P Szatmari; Rosanna Weksberg; B Fernandez; Stephen W Scherer
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Journal of medical genetics 2006;43(5):429-34.
2005: Julie Gauthier; Giovana V de Amorim; Gevork N Mnatzakanian; Carol Saunders; John B Vincent; Sylvie Toupin; David Kauffman; Judith St-Onge; Sandra Laurent; Patrick M Macleod; Berge A Minassian; Guy Rouleau
Clinical stringency greatly improves mutation detection in Rett syndrome.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2005;32(3):321-6.
2005: John B Vincent; Georg Melmer; Patrick Bolton; Steve Hodgkinson; Debbie Holmes; David Curtis; Hugh M D Gurling
Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region.
Psychiatric genetics 2005;15(2):83-90.
2005: Vincenzo De Luca; John B Vincent; Daniel J Müller; Rudi Hwang; Takahiro Shinkai; Jan Volavka; Pal Czobor; Brian Sheitman; Jean-Pierre Lindenmayer; Leslie Citrome; Joseph P McEvoy; Jeffrey A Lieberman; James L Kennedy
Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment.
Pharmacological research : the official journal of the Italian Pharmacological Society 2005;51(4):381-4.
2004: Thomas Schwarzbraun; John B Vincent; Axel Schumacher; Daniel Geschwind; Joao Oliveira; Christian Windpassinger; Lisa Ofner; Michael K Ledinegg; Peter M Kroisel; Klaus Wagner; Erwin Petek
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Genomics 2004;84(3):577-86.
2004: John B Vincent; Debbie Kolozsvari; Wendy S Roberts; Patrick Bolton; Hugh M D Gurling; Stephen W Scherer
Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;129B(1):82-4.
2004: Peter M Kroisel; Christian Windpassinger; Klaus Wagner; Erwin Petek; John B Vincent; Stephen W Scherer; Georg Spiel; Vida Artner; Erich Valtiner
De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.
American journal of medical genetics. Part A 2004;129A(1):98-100.
2004: Vincenzo De Luca; Pierandrea Muglia; John B Vincent; Matthew Lanktree; Umesh Jain; James L Kennedy
Adrenergic alpha 2C receptor genomic organization: association study in adult ADHD.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;127B(1):65-7.
2004: Gevork N Mnatzakanian; Hannes Lohi; Iulia Munteanu; Simon E Alfred; Takahiro Yamada; Patrick J M MacLeod; Julie R Jones; Stephen W Scherer; N Carolyn Schanen; Michael J Friez; John B Vincent; Berge A Minassian
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
Nature genetics 2004;36(4):339-41.
2004: John B Vincent; Sandy Thevarkunnel; Debbie Kolozsvari; Andrew D Paterson; Wendy Roberts; Stephen W Scherer
Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;125B(1):54-6.
2003: M Teresa Fortune; James L Kennedy; John B Vincent
Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorder.
Current psychiatry reports 2003;5(2):145-54.
2003: Felipe A Cisternas; John B Vincent; Stephen W Scherer; Peter N Ray
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
Genomics 2003;81(3):279-91.
2002: John B Vincent; Erwin Petek; Sandy Thevarkunnel; Debbie Kolozsvari; Joseph Cheung; Megha Patel; Stephen W Scherer
The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Genomics 2002;80(3):283-94.
2002: Asaf Hellman; Eitan Zlotorynski; Stephen W Scherer; Joseph Cheung; John B Vincent; David I Smith; Luba Trakhtenbrot; Batsheva Kerem
A role for common fragile site induction in amplification of human oncogenes.
Cancer cell 2002;1(1):89-97.
2001: Joseph Cheung; Erwin Petek; Kazuhiko Nakabayashi; Lap-Chee Tsui; John B Vincent; Stephen W Scherer
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Genomics 2001;78(1-2):7-11.
2001: Erwin Petek; Christian Windpassinger; John B Vincent; Joseph Cheung; Andrew P Boright; Stephen W Scherer; Peter M Kroisel; Klaus Wagner
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
American journal of human genetics 2001;68(4):848-58.
2000: John B Vincent; Qiu-Ping Yuan; Martin Schalling; Rolf Adolfsson; Maria H Azevedo; antonio macedo; A Bauer; C DallaTorre; Helena Medeiros; Michele T Pato; Carlos N Pato; Timothy Bowen; Carol A Guy; Michael J Owen; Michael C O'Donovan; Andrew D Paterson; Arturas Petronis; James L Kennedy
Long repeat tracts at SCA8 in major psychosis.
American journal of medical genetics 2000;96(6):873-6.
2000: Carlos N Pato; antonio macedo; A Ambrosio; John B Vincent; A Bauer; KM Schindler; J Xu; Isabel Coelho; Ana Dourado; José Valente; Maria H Azevedo; James L Kennedy; Michele T Pato
Detection of expansion regions in Portuguese bipolar families.
American journal of medical genetics 2000;96(6):854-7.
2000: John B Vincent; Jo-Anne Herbrick; Hugh M D Gurling; Patrick Bolton; Wendy Roberts; Stephen W Scherer
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.
American journal of human genetics 2000;67(2):510-4.
2000: John B Vincent; Jennifer Skaug; Stephen W Scherer
The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.
DNA research : an international journal for rapid publication of reports on genes and genomes 2000;7(3):233-5.
2000: Arturas Petronis; John B Vincent; L C Surh; T Ashizawa; James L Kennedy
Polyglutamine-containing proteins in schizophrenia: an effect of lymphoblastoid cells?
Molecular psychiatry 2000;5(3):234-6.
2000: Timothy Bowen; Carol A Guy; Alastair G Cardno; John B Vincent; James L Kennedy; Lisa Anne Jones; Marion Gray; Robert D Sanders; G McCarthy; Kieran C Murphy; Michael J Owen; Michael C O'Donovan
Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophrenia.
Psychiatric genetics 2000;10(1):33-7.
2000: John B Vincent; Maria Neves-Pereira; Andrew D Paterson; E Yamamoto; sagar parikh; Fabio Macciardi; Hugh M D Gurling; S G Potkin; Carlos N Pato; antonio macedo; M Kovacs; M Davies; J A Lieberman; Herbert Y Meltzer; Arturas Petronis; James L Kennedy
An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus.
American journal of human genetics 2000;66(3):819-29.
2000: John B Vincent; Andrew D Paterson; E Strong; Arturas Petronis; James L Kennedy
The unstable trinucleotide repeat story of major psychosis.
American journal of medical genetics 2000;97(1):77-97.
1999: sagar parikh; John B Vincent; James L Kennedy
Clinical characteristics of bipolar disorder subjects with large CAG/CTG repeat DNA.
Journal of affective disorders 1999;55(2-3):221-4.
1999: John B Vincent; Arturas Petronis; E Strong; sagar parikh; Herbert Y Meltzer; J Lieberman; James L Kennedy
Analysis of genome-wide CAG/CTG repeats, and at SEF2-1B and ERDA1 in schizophrenia and bipolar affective disorder.
Molecular psychiatry 1999;4(3):229-34.
1999: John B Vincent; M Kovacs; R Krol; C L Barr; James L Kennedy
Intergenerational CAG repeat expansion at ERDA1 in a family with childhood-onset depression, schizoaffective disorder, and recurrent major depression.
American journal of medical genetics 1999;88(1):79-82.
1999: John B Vincent; Mario Masellis; J Lawrence; V Choi; Hugh M D Gurling; sagar parikh; James L Kennedy
Genetic association analysis of serotonin system genes in bipolar affective disorder.
The American journal of psychiatry 1999;156(1):136-8.
1998: John B Vincent; Gursharan Kalsi; TA Klempan; Y Tatuch; Robin Sherrington; TS Breschel; Melvin G McInnis; Jon Brynjolfsson; Hannes Petursson; Hugh M D Gurling; Irving GOTTESMAN; E F Torrey; Arturas Petronis; James L Kennedy
No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins.
Human genetics 1998;103(1):41-7.
1998: John B Vincent; H M Gurling
Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome.
Human mutation 1998;12(6):431-2.
1996: Arturas Petronis; Anne S Bassett; William Honer; John B Vincent; Y Tatuch; T Sasaki; D J Ying; TA Klempan; James L Kennedy
Search for unstable DNA in schizophrenia families with evidence for genetic anticipation.
American journal of human genetics 1996;59(4):905-11.
1996: John B Vincent; D S Konecki; E Munstermann; Patrick Bolton; A Poustka; F Poustka; Hugh M D Gurling
Point mutation analysis of the FMR-1 gene in autism.
Molecular psychiatry 1996;1(3):227-31.
1996: John B Vincent; TA Klempan; sagar parikh; T Sasaki; Herbert Y Meltzer; Giorgio Sirugo; P Cola; Arturas Petronis; James L Kennedy
Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder.
Molecular psychiatry 1996;1(2):141-8.