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Anthony Monaco

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

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Chromosomes, Artificial, Yeast

Anatomy

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Chemicals & Drugs

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Publications

TOP 3
Sykes Nuala H; Toma Claudio; Wilson Natalie; Volpi Emanuela V; Sousa Inês; Pagnamenta Alistair T; Tancredi Raffaella; Battaglia Agatino; Maestrini Elena; Bailey Anthony J; Monaco Anthony P;
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
Vernes Sonja C; MacDermot Kay D; Monaco Anthony P; Fisher Simon E
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.
Egbuna Ogo I; Davis Roger B; Chudinski Robyn; Pavlakis Martha; Rogers Christin; Molakatalla Phani; Johnson Scott R; Karp Seth; Monaco Anthony P; Tang Hongying; Hanto Douglas W; Mandelbrot Didier A
Outcomes with conversion from calcineurin inhibitors to sirolimus after renal transplantation in the context of steroid withdrawal or steroid continuation.

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All Publications

2009: Sykes Nuala H; Toma Claudio; Wilson Natalie; Volpi Emanuela V; Sousa Inês; Pagnamenta Alistair T; Tancredi Raffaella; Battaglia Agatino; Maestrini Elena; Bailey Anthony J; Monaco Anthony P;
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
European journal of human genetics : EJHG 2009;17(10):1347-53.
2009: Vernes Sonja C; MacDermot Kay D; Monaco Anthony P; Fisher Simon E
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.
European journal of human genetics : EJHG 2009;17(10):1354-8.
2009: Egbuna Ogo I; Davis Roger B; Chudinski Robyn; Pavlakis Martha; Rogers Christin; Molakatalla Phani; Johnson Scott R; Karp Seth; Monaco Anthony P; Tang Hongying; Hanto Douglas W; Mandelbrot Didier A
Outcomes with conversion from calcineurin inhibitors to sirolimus after renal transplantation in the context of steroid withdrawal or steroid continuation.
Transplantation 2009;88(5):684-92.
2009: Levecque Clotilde; Velayos-Baeza Antonio; Holloway Zoe G; Monaco Anthony P
The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.
American journal of physiology. Cell physiology 2009;297(1):C160-8.
2009: Sousa Inês; Clark Taane G; Toma Claudio; Kobayashi Kazuhiro; Choma Maja; Holt Richard; Sykes Nuala H; Lamb Janine A; Bailey Anthony J; Battaglia Agatino; Maestrini Elena; Monaco Anthony P;
MET and autism susceptibility: family and case-control studies.
European journal of human genetics : EJHG 2009;17(6):749-58.
2009: Pagnamenta Alistair T; Wing Kirsty; Akha Elham Sadighi; Knight Samantha J L; Bölte Sven; Schmötzer Gabriele; Duketis Eftichia; Poustka Fritz; Klauck Sabine M; Poustka Annemarie; Ragoussis Jiannis; Bailey Anthony J; Monaco Anthony P;
A 15q13.3 microdeletion segregating with autism.
European journal of human genetics : EJHG 2009;17(5):687-92.
2009: Dennis Megan Y; Paracchini Silvia; Scerri Thomas S; Prokunina-Olsson Ludmila; Knight Julian C; Wade-Martins Richard; Coggill Penny; Beck Stephan; Green Eric D; Monaco Anthony P
A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
PLoS genetics 2009;5(3):e1000436.
2009: Newbury Dianne F; Warburton Pamela C; Wilson Natalie; Bacchelli Elena; Carone Simona; Lamb Janine A; Maestrini Elena; Volpi Emanuela V; Mohammed Shehla; Baird Gillian; Monaco Anthony P
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
American journal of medical genetics. Part A 2009;149A(4):588-97.
2009: Asher Julian E; Lamb Janine A; Brocklebank Denise; Cazier Jean-Baptiste; Maestrini Elena; Addis Laura; Sen Mallika; Baron-Cohen Simon; Monaco Anthony P
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12.
American journal of human genetics 2009;84(2):279-85.
2008: Paracchini Silvia; Steer Colin D; Buckingham Lyn-Louise; Morris Andrew P; Ring Susan; Scerri Thomas; Stein John; Pembrey Marcus E; Ragoussis Jiannis; Golding Jean; Monaco Anthony P
Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.
The American journal of psychiatry 2008;165(12):1576-84.
2008: Vernes Sonja C; Newbury Dianne F; Abrahams Brett S; Winchester Laura; Nicod Jérôme; Groszer Matthias; Alarcón Maricela; Oliver Peter L; Davies Kay E; Geschwind Daniel H; Monaco Anthony P; Fisher Simon E
A functional genetic link between distinct developmental language disorders.
The New England journal of medicine 2008;359(22):2337-45.
2008: Murphy Jane E; Vohra Ravinder S; Dunn Sarah; Holloway Zoe G; Monaco Anthony P; Homer-Vanniasinkam Shervanthi; Walker John H; Ponnambalam Sreenivasan
Oxidised LDL internalisation by the LOX-1 scavenger receptor is dependent on a novel cytoplasmic motif and is regulated by dynamin-2.
Journal of cell science 2008;121(Pt 13):2136-47.
2008: Velayos-Baeza Antonio; Toma Claudio; Paracchini Silvia; Monaco Anthony P
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.
Human molecular genetics 2008;17(6):859-71.
2008: Winchester L; Newbury D F; Monaco A P; Ragoussis J
Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.
Cytogenetic and genome research 2008;123(1-4):322-32.
2007: Ruiz-Sandoval José L; García-Navarro Víctor; Chiquete Erwin; Dobson-Stone Carol; Monaco Anthony P; Alvarez-Palazuelos Lucía E; Padilla-Martínez Juan J; Barrera-Chairez Esperanza; Rodríguez-Figueroa Erika I; Pérez-García Guillermo
Choreoacanthocytosis in a Mexican family.
Archives of neurology 2007;64(11):1661-4.
2007: Toma C; Rossi M; Sousa I; Blasi F; Bacchelli E; Alen R; Vanhala R; Monaco A P; Järvelä I; Maestrini E;
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.
Molecular psychiatry 2007;12(11):977-9.
2007: Velayos-Baeza Antonio; Toma Claudio; da Roza Stephanie; Paracchini Silvia; Monaco Anthony P
Alternative splicing in the dyslexia-associated gene KIAA0319.
Mammalian genome : official journal of the International Mammalian Genome Society 2007;18(9):627-34.
2007: Paracchini Silvia; Scerri Thomas; Monaco Anthony P
The genetic lexicon of dyslexia.
Annual review of genomics and human genetics 2007;8():57-79.
2006: Harold D; Paracchini S; Scerri T; Dennis M; Cope N; Hill G; Moskvina V; Walter J; Richardson A J; Owen M J; Stein J F; Green E D; O'Donovan M C; Williams J; Monaco A P
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia.
Molecular psychiatry 2006;11(12):1085-91, 1061.
2006: Lonie Lorne; Porter Daniel E; Fraser Maria; Cole Trevor; Wise Carol; Yates Laura; Wakeling Emma; Blair Ed; Morava Eva; Monaco Anthony P; Ragoussis Jiannis
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Human mutation 2006;27(11):1160.
2006: Parr J R; Lamb J A; Bailey A J; Monaco A P
Response to paper by Molloy et al.: linkage on 21q and 7q in autism subset with regression.
Molecular psychiatry 2006;11(7):617-9; author reply 619.
2006: Paracchini Silvia; Thomas Ankur; Castro Sandra; Lai Cecilia; Paramasivam Murugan; Wang Yu; Keating Brendan J; Taylor Jennifer M; Hacking Douglas F; Scerri Thomas; Francks Clyde; Richardson Alex J; Wade-Martins Richard; Stein John F; Knight Julian C; Copp Andrew J; Loturco Joseph; Monaco Anthony P
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.
Human molecular genetics 2006;15(10):1659-66.
2006: Blasi Francesca; Bacchelli Elena; Carone Simona; Toma Claudio; Monaco Anthony P; Bailey Anthony J; Maestrini Elena;
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
European journal of human genetics : EJHG 2006;14(1):123-6.
2006: Howell Gareth J; Holloway Zoe G; Cobbold Christian; Monaco Anthony P; Ponnambalam Sreenivasan
Cell biology of membrane trafficking in human disease.
International review of cytology 2006;252():1-69.
2005: Newbury Dianne F; Bishop Dorothy V M; Monaco Anthony P
Genetic influences on language impairment and phonological short-term memory.
Trends in cognitive sciences 2005;9(11):528-34.
2005: Gayán J; Willcutt E G; Fisher S E; Francks C; Cardon L R; Olson R K; Pennington B F; Smith S D; Monaco A P; DeFries J C
Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci.
Journal of child psychology and psychiatry, and allied disciplines 2005;46(10):1045-56.
2005: Dobson-Stone Carol; Velayos-Baeza Antonio; Jansen An; Andermann Frederick; Dubeau François; Robert Francine; Summers Anne; Lang Anthony E; Chouinard Sylvain; Danek Adrian; Andermann Eva; Monaco Anthony P
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
Neurogenetics 2005;6(3):151-8.
2005: Al-Asmi Abdullah; Jansen An C; Badhwar AmanPreet; Dubeau François; Tampieri Donatella; Shustik Chaim; Mercho Suha; Savard Ghislaine; Dobson-Stone Carol; Monaco Anthony P; Andermann Frederick; Andermann Eva
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Epilepsia 2005;46(8):1256-63.
2005: MacDermot Kay D; Bonora Elena; Sykes Nuala; Coupe Anne-Marie; Lai Cecilia S L; Vernes Sonja C; Vargha-Khadem Faraneh; McKenzie Fiona; Smith Robert L; Monaco Anthony P; Fisher Simon E
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
American journal of human genetics 2005;76(6):1074-80.
2005: Barnby Gabrielle; Abbott Aaron; Sykes Nuala; Morris Andrew; Weeks Daniel E; Mott Richard; Lamb Janine; Bailey Anthony J; Monaco Anthony P;
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
American journal of human genetics 2005;76(6):950-66.
2005: Lossos Alexander; Dobson-Stone Carol; Monaco Anthony P; Soffer Dov; Rahamim Ezra; Newman J P; Mohiddin Saidi; Fananapazir Lameh; Lerer Israela; Linetsky Eduard; Reches Avinoam; Argov Zohar; Abramsky Oded; Gadoth Natan; Sadeh Menachem; Gomori John M; Boher Moshe; Meiner Vardiella
Early clinical heterogeneity in choreoacanthocytosis.
Archives of neurology 2005;62(4):611-4.
2005: Lamb J A; Barnby G; Bonora E; Sykes N; Bacchelli E; Blasi F; Maestrini E; Broxholme J; Tzenova J; Weeks D; Bailey A J; Monaco A P;
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
Journal of medical genetics 2005;42(2):132-7.
2004: Francks Clyde; Paracchini Silvia; Smith Shelley D; Richardson Alex J; Scerri Tom S; Cardon Lon R; Marlow Angela J; MacPhie I Laurence; Walter Janet; Pennington Bruce F; Fisher Simon E; Olson Richard K; DeFries John C; Stein John F; Monaco Anthony P
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.
American journal of human genetics 2004;75(6):1046-58.
2004: Scerri T S; Fisher S E; Francks C; MacPhie I L; Paracchini S; Richardson A J; Stein J F; Monaco A P
Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK.
Journal of medical genetics 2004;41(11):853-7.
2004: Velayos-Baeza Antonio; Vettori Andrea; Copley Richard R; Dobson-Stone Carol; Monaco A P
Analysis of the human VPS13 gene family.
Genomics 2004;84(3):536-49.
2004: Porter D E; Lonie L; Fraser M; Dobson-Stone C; Porter J R; Monaco A P; Simpson A H R W
Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.
The Journal of bone and joint surgery. British volume 2004;86(7):1041-6.
2004: Dobson-Stone Carol; Velayos-Baeza Antonio; Filippone Lea A; Westbury Sarah; Storch Alexander; Erdmann Torsten; Wroe Stephen J; Leenders Klaus L; Lang Anthony E; Dotti Maria Teresa; Federico Antonio; Mohiddin Saidi A; Fananapazir Lameh; Daniels Geoff; Danek Adrian; Monaco Anthony P
Chorein detection for the diagnosis of chorea-acanthocytosis.
Annals of neurology 2004;56(2):299-302.
2004: Loo S K; Fisher S E; Francks C; Ogdie M N; MacPhie I L; Yang M; McCracken J T; McGough J J; Nelson S F; Monaco A P; Smalley S L
Genome-wide scan of reading ability in affected sibling pairs with attention-deficit/hyperactivity disorder: unique and shared genetic effects.
Molecular psychiatry 2004;9(5):485-93.
2004: Cobbold Christian; Coventry Julie; Ponnambalam Sreenivasan; Monaco Anthony P
Actin and microtubule regulation of trans-Golgi network architecture, and copper-dependent protein transport to the cell surface.
Molecular membrane biology 2004;21(1):59-66.
2003: Cobbold Christian; Monaco Anthony P; Sivaprasadarao Asipu; Ponnambalam Sreenivasan
Aberrant trafficking of transmembrane proteins in human disease.
Trends in cell biology 2003;13(12):639-47.
2003: Francks Clyde; DeLisi Lynn E; Shaw Sarah H; Fisher Simon E; Richardson Alex J; Stein John F; Monaco Anthony P
Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11.
Human molecular genetics 2003;12(24):3225-30.
2003: Francks Clyde; Fisher Simon E; Marlow Angela J; MacPhie I Laurence; Taylor Kathleen E; Richardson Alex J; Stein John F; Monaco Anthony P
Familial and genetic effects on motor coordination, laterality, and reading-related cognition.
The American journal of psychiatry 2003;160(11):1970-7.
2003: Bacchelli E; Blasi F; Biondolillo M; Lamb J A; Bonora E; Barnby G; Parr J; Beyer K S; Klauck S M; Poustka A; Bailey A J; Monaco A P; Maestrini E;
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.
Molecular psychiatry 2003;8(11):916-24.
2003: Bonora E; Beyer K S; Lamb J A; Parr J R; Klauck S M; Benner A; Paolucci M; Abbott A; Ragoussis I; Poustka A; Bailey A J; Monaco A P;
Analysis of reelin as a candidate gene for autism.
Molecular psychiatry 2003;8(10):885-92.
2003: Previtali Stefano C; Zerega Barbara; Sherman Diane L; Brophy Peter J; Dina Giorgia; King Rosalind H M; Salih Mustafa M; Feltri Laura; Quattrini Angelo; Ravazzolo Roberto; Wrabetz Lawrence; Monaco Anthony P; Bolino Alessandra
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Human molecular genetics 2003;12(14):1713-23.
2003: Cobbold Christian; Coventry Julie; Ponnambalam Sreenivasan; Monaco Anthony P
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
Human molecular genetics 2003;12(13):1523-33.
2003: Bochukova Elena G; Jefferson Andrew; Francis Michael J; Monaco Anthony P
Genomic studies of gene expression: regulation of the Wilson disease gene.
Genomics 2003;81(6):531-42.
2003: Ogdie Matthew N; Macphie I Laurence; Minassian Sonia L; Yang May; Fisher Simon E; Francks Clyde; Cantor Rita M; McCracken James T; McGough James J; Nelson Stanley F; Monaco Anthony P; Smalley Susan L
A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.
American journal of human genetics 2003;72(5):1268-79.
2003: Bohlega Saeed; Al-Jishi Adel; Dobson-Stone Carol; Rampoldi Luca; Saha Parthasarathi; Murad Hatem; Kareem Abid; Roberts George; Monaco Anthony P
Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
Movement disorders : official journal of the Movement Disorder Society 2003;18(4):403-7.
2003: Marlow Angela J; Fisher Simon E; Francks Clyde; MacPhie I Laurence; Cherny Stacey S; Richardson Alex J; Talcott Joel B; Stein John F; Monaco Anthony P; Cardon Lon R
Use of multivariate linkage analysis for dissection of a complex cognitive trait.
American journal of human genetics 2003;72(3):561-70.
2003: Francks Clyde; DeLisi Lynn E; Fisher Simon E; Laval Steve H; Rue Judith E; Stein John F; Monaco Anthony P
Confirmatory evidence for linkage of relative hand skill to 2p12-q11.
American journal of human genetics 2003;72(2):499-502.
2003: Barnby G; Monaco A P
Strategies for autism candidate gene analysis.
Novartis Foundation symposium 2003;251():48-63; discussion 63-9, 109-11, 281-97.
2003: Fisher Simon E; Lai Cecilia S L; Monaco Anthony P
Deciphering the genetic basis of speech and language disorders.
Annual review of neuroscience 2003;26():57-80.
2002: Francks Clyde; MacPhie I Laurence; Monaco Anthony P
The genetic basis of dyslexia.
Lancet neurology 2002;1(8):483-90.
2002: Newbury Dianne F; Monaco Anthony P
Talking genes - the molecular basis of language impairment.
Biologist (London, England) 2002;49(6):255-60.
2002: Newbury Dianne F; Monaco Anthony P
Molecular genetics of speech and language disorders.
Current opinion in pediatrics 2002;14(6):696-701.
2002: Cobbold Christian; Ponnambalam Sreenivasan; Francis Michael J; Monaco Anthony P
Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.
Human molecular genetics 2002;11(23):2855-66.
2002: Smalley Susan L; Kustanovich Vlad; Minassian Sonia L; Stone Jennifer L; Ogdie Matthew N; McGough James J; McCracken James T; MacPhie I Laurence; Francks Clyde; Fisher Simon E; Cantor Rita M; Monaco Anthony P; Nelson Stanley F
Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.
American journal of human genetics 2002;71(4):959-63.
2002: Rampoldi Luca; Danek Adrian; Monaco Anthony P
Clinical features and molecular bases of neuroacanthocytosis.
Journal of molecular medicine (Berlin, Germany) 2002;80(8):475-91.
2002: Fisher Simon E; Francks Clyde; McCracken James T; McGough James J; Marlow Angela J; MacPhie I Laurence; Newbury Dianne F; Crawford Lori R; Palmer Christina G S; Woodward J Arthur; Del'Homme Melissa; Cantwell Dennis P; Nelson Stanley F; Monaco Anthony P; Smalley Susan L
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
American journal of human genetics 2002;70(5):1183-96.
2002: Newbury D F; Bonora E; Lamb J A; Fisher S E; Lai C S L; Baird G; Jannoun L; Slonims V; Stott C M; Merricks M J; Bolton P F; Bailey A J; Monaco A P;
FOXP2 is not a major susceptibility gene for autism or specific language impairment.
American journal of human genetics 2002;70(5):1318-27.
2002: Francks Clyde; Fisher Simon E; Olson Richard K; Pennington Bruce F; Smith Shelley D; DeFries John C; Monaco Anthony P
Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1.
Psychiatric genetics 2002;12(1):35-41.
2002: Francks Clyde; Fisher Simon E; MacPhie I Laurence; Richardson Alex J; Marlow Angela J; Stein John F; Monaco Anthony P
A genomewide linkage screen for relative hand skill in sibling pairs.
American journal of human genetics 2002;70(3):800-5.
2002: Dobson-Stone Carol; Fairclough Rebecca; Dunne Eimear; Brown Joanna; Dissanayake Manel; Munro Colin S; Strachan Tom; Burge Susan; Sudbrak Ralf; Monaco Anthony P; Hovnanian Alain
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
The Journal of investigative dermatology 2002;118(2):338-43.
2002: Bolino Alessandra; Marigo Valeria; Ferrera Francesca; Loader Julie; Romio Leila; Leoni Antonio; Di Duca Marco; Cinti Roberta; Cecchi Chiara; Feltri Maria Laura; Wrabetz Lawrence; Ravazzolo Roberto; Monaco Anthony P
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
Gene 2002;283(1-2):17-26.
2002: Fisher Simon E; Francks Clyde; Marlow Angela J; MacPhie I Laurence; Newbury Dianne F; Cardon Lon R; Ishikawa-Brush Yumiko; Richardson Alex J; Talcott Joel B; Gayán Javier; Olson Richard K; Pennington Bruce F; Smith Shelley D; DeFries John C; Stein John F; Monaco Anthony P
Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia.
Nature genetics 2002;30(1):86-91.
2002: Lamb Janine A; Parr Jeremy R; Bailey Anthony J; Monaco Anthony P
Autism: in search of susceptibility genes.
Neuromolecular medicine 2002;2(1):11-28.
2002: Bonora E; Bacchelli E; Levy E R; Blasi F; Marlow A; Monaco A P; Maestrini E;
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.
Molecular psychiatry 2002;7(3):289-301.
2001: Danek A; Rubio J P; Rampoldi L; Ho M; Dobson-Stone C; Tison F; Symmans W A; Oechsner M; Kalckreuth W; Watt J M; Corbett A J; Hamdalla H H; Marshall A G; Sutton I; Dotti M T; Malandrini A; Walker R H; Daniels G; Monaco A P
McLeod neuroacanthocytosis: genotype and phenotype.
Annals of neurology 2001;50(6):755-64.
2001: Lai C S; Fisher S E; Hurst J A; Vargha-Khadem F; Monaco A P
A forkhead-domain gene is mutated in a severe speech and language disorder.
Nature 2001;413(6855):519-23.
2001: Danek A; Tison F; Rubio J; Oechsner M; Kalckreuth W; Monaco A P
The chorea of McLeod syndrome.
Movement disorders : official journal of the Movement Disorder Society 2001;16(5):882-9.
2001: Rampoldi L; Dobson-Stone C; Rubio J P; Danek A; Chalmers R M; Wood N W; Verellen C; Ferrer X; Malandrini A; Fabrizi G M; Brown R; Vance J; Pericak-Vance M; Rudolf G; Carrè S; Alonso E; Manfredi M; Németh A H; Monaco A P
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Nature genetics 2001;28(2):119-20.
2001: Marlow A J; Fisher S E; Richardson A J; Francks C; Talcott J B; Monaco A P; Stein J F; Cardon L R
Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK.
Behavior genetics 2001;31(2):219-30.
2001: Bolino A; Lonie L J; Zimmer M; Boerkoel C F; Takashima H; Monaco A P; Lupski J R
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Neurogenetics 2001;3(2):107-9.
2001: Caraballo R; Pavek S; Lemainque A; Gastaldi M; Echenne B; Motte J; Genton P; Cersósimo R; Humbertclaude V; Fejerman N; Monaco A P; Lathrop M G; Rochette J; Szepetowski P
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
American journal of human genetics 2001;68(3):788-94.
2000: Dotti M T; Battisti C; Malandrini A; Federico A; Rubio J P; Circiarello G; Monaco A P
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Movement disorders : official journal of the Movement Disorder Society 2000;15(6):1282-4.
2000: Lai C S; Fisher S E; Hurst J A; Levy E R; Hodgson S; Fox M; Jeremiah S; Povey S; Jamison D C; Green E D; Vargha-Khadem F; Monaco A P
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
American journal of human genetics 2000;67(2):357-68.
2000: Francks C; Fisher S E; Marlow A J; Richardson A J; Stein J F; Monaco A P
A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability.
Prostaglandins, leukotrienes, and essential fatty acids 2000;63(1-2):27-31.
2000: Bolino A; Muglia M; Conforti F L; LeGuern E; Salih M A; Georgiou D M; Christodoulou K; Hausmanowa-Petrusewicz I; Mandich P; Schenone A; Gambardella A; Bono F; Quattrone A; Devoto M; Monaco A P
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Nature genetics 2000;25(1):17-9.
2000: Sudbrak R; Brown J; Dobson-Stone C; Carter S; Ramser J; White J; Healy E; Dissanayake M; Larrègue M; Perrussel M; Lehrach H; Munro C S; Strachan T; Burge S; Hovnanian A; Monaco A P
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Human molecular genetics 2000;9(7):1131-40.
2000: Lamb J A; Moore J; Bailey A; Monaco A P
Autism: recent molecular genetic advances.
Human molecular genetics 2000;9(6):861-8.
2000: McDonell N; Ramser J; Francis F; Vinet M C; Rider S; Sudbrak R; Riesselman L; Yaspo M L; Reinhardt R; Monaco A P; Ross F; Kahn A; Kearney L; Buckle V; Chelly J
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
Genomics 2000;64(3):221-9.
2000: Dobson-Stone C; Cox R D; Lonie L; Southam L; Fraser M; Wise C; Bernier F; Hodgson S; Porter D E; Simpson A H; Monaco A P
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
European journal of human genetics : EJHG 2000;8(1):24-32.
2000: Bolino A; Levy E R; Muglia M; Conforti F L; LeGuern E; Salih M A; Georgiou D M; Christodoulou R K; Hausmanowa-Petrusewicz I; Mandich P; Gambardella A; Quattrone A; Devoto M; Monaco A P
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
Genomics 2000;63(2):271-8.
1999: Maestrini E; Lai C; Marlow A; Matthews N; Wallace S; Bailey A; Cook E H; Weeks D E; Monaco A P
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
American journal of medical genetics 1999;88(5):492-6.
1999: Németh A H; Nolte D; Dunne E; Niemann S; Kostrzewa M; Peters U; Fraser E; Bochukova E; Butler R; Brown J; Cox R D; Levy E R; Ropers H H; Monaco A P; Müller U
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).
Genomics 1999;60(3):320-9.
1999: Goodyer I D; Jones E E; Monaco A P; Francis M J
Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
Human molecular genetics 1999;8(8):1473-8.
1999: Maestrini E; Korge B P; Ocaña-Sierra J; Calzolari E; Cambiaghi S; Scudder P M; Hovnanian A; Monaco A P; Munro C S
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Human molecular genetics 1999;8(7):1237-43.
1999: Francis M J; Jones E E; Levy E R; Martin R L; Ponnambalam S; Monaco A P
Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane.
Journal of cell science 1999;112 ( Pt 11)():1721-32.
1999: Szepetowski P; Monaco A P
Electronic identification and chromosomal assignment by radiation hybrid mapping of human expressed sequence tags corresponding to new potassium channel genes.
Neurogenetics 1999;2(2):115-20.
1999: Rubio J P; Levy E R; Dobson-Stone C; Monaco A P
Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).
Genomics 1999;57(1):84-93.
1999: Sakuntabhai A; Ruiz-Perez V; Carter S; Jacobsen N; Burge S; Monk S; Smith M; Munro C S; O'Donovan M; Craddock N; Kucherlapati R; Rees J L; Owen M; Lathrop G M; Monaco A P; Strachan T; Hovnanian A
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Nature genetics 1999;21(3):271-7.
1999: Fisher S E; Marlow A J; Lamb J; Maestrini E; Williams D F; Richardson A J; Weeks D E; Stein J F; Monaco A P
A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.
American journal of human genetics 1999;64(1):146-56.
1999: Fisher S E; Stein J F; Monaco A P
A genome-wide search strategy for identifying quantitative trait loci involved in reading and spelling disability (developmental dyslexia).
European child & adolescent psychiatry 1999;8 Suppl 3():47-51.
1998: Kaisaki P J; Woon P Y; Wallis R H; Monaco A P; Lathrop M; Gauguier D
Localization of tub and uncoupling proteins (Ucp) 2 and 3 to a region of rat chromosome 1 linked to glucose intolerance and adiposity in the Goto-Kakizaki (GK) type 2 diabetic rat.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(11):910-2.
1998: Maestrini E; Marlow A J; Weeks D E; Monaco A P
Molecular genetic investigations of autism.
Journal of autism and developmental disorders 1998;28(5):427-37.
1998: Hovnanian A; Rebouillat D; Mattei M G; Levy E R; Marié I; Monaco A P; Hovanessian A G
The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms.
Genomics 1998;52(3):267-77.
1998: Francis M J; Jones E E; Levy E R; Ponnambalam S; Chelly J; Monaco A P
A Golgi localization signal identified in the Menkes recombinant protein.
Human molecular genetics 1998;7(8):1245-52.
1998: Woon P Y; Osoegawa K; Kaisaki P J; Zhao B; Catanese J J; Gauguier D; Cox R; Levy E R; Lathrop G M; Monaco A P; de Jong P J
Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library.
Genomics 1998;50(3):306-16.
1998: Kostrzewa M; Krings B W; Dixon M J; Eppelt K; Köhler A; Grady D L; Steinberger D; Fairweather N D; Moyzis R K; Monaco A P; Müller U
Integrated physical and transcript map of 5q31.3-qter.
European journal of human genetics : EJHG 1998;6(3):266-74.
1998: Monk S; Sakuntabhai A; Carter S A; Bryce S D; Cox R; Harrington L; Levy E; Ruiz-Perez V L; Katsantoni E; Kodvawala A; Munro C S; Burge S; Larrègue M; Nagy G; Rees J L; Lathrop M; Monaco A P; Strachan T; Hovnanian A
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.
American journal of human genetics 1998;62(4):890-903.
1998: Szepetowski P; Monaco A P
Recent progress in the genetics of human epilepsies.
Neurogenetics 1998;1(3):153-63.
1998: Fisher S E; Vargha-Khadem F; Watkins K E; Monaco A P; Pembrey M E
Localisation of a gene implicated in a severe speech and language disorder.
Nature genetics 1998;18(2):168-70.
1997: Rubio J P; Danek A; Stone C; Chalmers R; Wood N; Verellen C; Ferrer X; Malandrini A; Fabrizi G M; Manfredi M; Vance J; Pericak-Vance M; Brown R; Rudolf G; Picard F; Alonso E; Brin M; Németh A H; Farrall M; Monaco A P
Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
American journal of human genetics 1997;61(4):899-908.
1997: Szepetowski P; Rochette J; Berquin P; Piussan C; Lathrop G M; Monaco A P
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
American journal of human genetics 1997;61(4):889-98.
1997: Renault B; Hovnanian A; Bryce S; Chang J J; Lau S; Sakuntabhai A; Monk S; Carter S; Ross C J; Pang J; Twells R; Chamberlain S; Monaco A P; Strachan T; Kucherlapati R
A sequence-ready physical map of a region of 12q24.1.
Genomics 1997;45(2):271-8.
1997: Philippe C; Porter D E; Emerton M E; Wells D E; Simpson A H; Monaco A P
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
American journal of human genetics 1997;61(3):520-8.
1997: Ishikawa-Brush Y; Powell J F; Bolton P; Miller A P; Francis F; Willard H F; Lehrach H; Monaco A P
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.
Human molecular genetics 1997;6(8):1241-50.
1997: Millwood I Y; Bihoreau M T; Gauguier D; Hyne G; Levy E R; Kreutz R; Lathrop G M; Monaco A P
A gene-based genetic linkage and comparative map of the rat X chromosome.
Genomics 1997;40(2):253-61.
1997: Mejía J E; Monaco A P
Retrofitting vectors for Escherichia coli-based artificial chromosomes (PACs and BACs) with markers for transfection studies.
Genome research 1997;7(2):179-86.
1996: Monaco A P
Human genetics: dissecting Williams syndrome.
Current biology : CB 1996;6(11):1396-8.
1996: Walker A P; Muscatelli F; Stafford A N; Chelly J; Dahl N; Blomquist H K; Delanghe J; Willems P J; Steinmann B; Monaco A P
Mutations and phenotype in isolated glycerol kinase deficiency.
American journal of human genetics 1996;58(6):1205-11.
1996: Maestrini E; Monaco A P; McGrath J A; Ishida-Yamamoto A; Camisa C; Hovnanian A; Weeks D E; Lathrop M; Uitto J; Christiano A M
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Nature genetics 1996;13(1):70-7.
1996: Kostrzewa M; Köhler A; Eppelt K; Hellam L; Fairweather N D; Levy E R; Monaco A P; Müller U
Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.
European journal of human genetics : EJHG 1996;4(4):199-204.
1996: Larin Z; Monaco A P; Lehrach H
Generation of large insert YAC libraries.
Methods in molecular biology (Clifton, N.J.) 1996;54():1-11.
1995: Fisher S E; Hatchwell E; Chand A; Ockenden N; Monaco A P; Craig I W
Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.
Genomics 1995;29(2):496-502.
1995: Millwood I Y; Blake D J; Gauguier D; Monaco A P
Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(9):668-9.
1995: Haberhausen G; Schmitt I; Köhler A; Peters U; Rider S; Chelly J; Terwilliger J D; Monaco A P; Müller U
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.
American journal of human genetics 1995;57(3):644-50.
1995: Blair H J; Ho M; Monaco A P; Fisher S; Craig I W; Boyd Y
High-resolution comparative mapping of the proximal region of the mouse X chromosome.
Genomics 1995;28(2):305-10.
1995: Philippe C; Arnould C; Sloan F; van Bokhoven H; van der Velde-Visser S D; Chery M; Ropers H H; Gilgenkrantz S; Monaco A P; Cremers F P
A high-resolution interval map of the q21 region of the human X chromosome.
Genomics 1995;27(3):539-43.
1995: Muscatelli F; Walker A P; De Plaen E; Stafford A N; Monaco A P
Isolation and characterization of a MAGE gene family in the Xp21.3 region.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(11):4987-91.
1995: Villard L; Gecz J; Colleaux L; Lossi A M; Chelly J; Ishikawa-Brush Y; Monaco A P; Fontes M
Construction of a YAC contig spanning the Xq13.3 subband.
Genomics 1995;26(1):115-22.
1995: Bolton P; Powell J; Rutter M; Buckle V; Yates J R; Ishikawa-Brush Y; Monaco A P
Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).
Psychiatric genetics 1995;5(2):51-5.
1995: Monaco A P; Chelly J
Menkes and Wilson diseases.
Advances in genetics 1995;33():233-53.
1994: Stone C; Pointon J J; Jazwinska E C; Halliday J W; Powell L W; Robson K J; Monaco A P; Weatherall D J
Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis.
Human molecular genetics 1994;3(11):2043-6.
1994: Müller U; Haberhausen G; Wagner T; Fairweather N D; Chelly J; Monaco A P
DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).
Genomics 1994;23(1):114-7.
1994: George A M; Reed V; Glenister P; Chelly J; Tümer Z; Horn N; Monaco A P; Boyd Y
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.
Genomics 1994;22(1):27-35.
1994: Monaco A P; Larin Z
YACs, BACs, PACs and MACs: artificial chromosomes as research tools.
Trends in biotechnology 1994;12(7):280-6.
1994: Ho M; Chelly J; Carter N; Danek A; Crocker P; Monaco A P
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.
Cell 1994;77(6):869-80.
1994: Monaco A P; Larin Z; Lehrach H
Construction of yeast artificial chromosome libraries by pulsed-field gel electrophoresis.
Molecular biotechnology 1994;1(3):241-9.
1994: Stafford A N; Rider S H; Hopkin J M; Cookson W O; Monaco A P
A 2.8 Mb YAC contig in 11q12-q13 localizes candidate genes for atopy: Fc epsilon RI beta and CD20.
Human molecular genetics 1994;3(5):779-85.
1994: Reed V; Rider S; Maslen G L; Hatchwell E; Blair H J; Uwechue I C; Craig I W; Laval S H; Monaco A P; Boyd Y
A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1.
Genomics 1994;20(3):341-6.
1994: Francis F; Benham F; See C G; Fox M; Ishikawa-Brush Y; Monaco A P; Weiss B; Rappold G; Hamvas R M; Lehrach H
Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines.
Genomics 1994;20(1):75-83.
1993: Pearce M; Blake D J; Tinsley J M; Byth B C; Campbell L; Monaco A P; Davies K E
The utrophin and dystrophin genes share similarities in genomic structure.
Human molecular genetics 1993;2(11):1765-72.
1993: Rider S H; Monaco A P
Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus.
Human molecular genetics 1993;2(9):1510.
1993: Francis M J; Morrison K E; Campbell L; Grewal P K; Christodoulou Z; Daniels R J; Monaco A P; Frischauf A M; McPherson J; Wasmuth J
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.
Human molecular genetics 1993;2(8):1161-7.
1993: Fairweather N; Chelly J; Monaco A P
Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach.
Human molecular genetics 1993;2(5):607-8.
1993: Walker A P; Muscatelli F; Monaco A P
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
Human molecular genetics 1993;2(2):107-14.
1993: Chelly J; Tümer Z; Tønnesen T; Petterson A; Ishikawa-Brush Y; Tommerup N; Horn N; Monaco A P
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Nature genetics 1993;3(1):14-9.
1993: Cox R D; Meier-Ewert S; Ross M; Larin Z; Monaco A P; Lehrach H
Genome mapping and cloning of mutations using yeast artificial chromosomes.
Methods in enzymology 1993;225():637-53.
1993: Larin Z; Monaco A P; Meier-Ewert S; Lehrach H
Construction and characterization of yeast artificial chromosome libraries from the mouse genome.
Methods in enzymology 1993;225():623-37.
1993: Monaco A P
Molecular human genetics and the Duchenne/Becker muscular dystrophy gene.
Molecular and cell biology of human diseases series 1993;3():1-11.
1992: Górecki D C; Monaco A P; Derry J M; Walker A P; Barnard E A; Barnard P J
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.
Human molecular genetics 1992;1(7):505-10.
1992: Tümer Z; Chelly J; Tommerup N; Ishikawa-Brush Y; Tønnesen T; Monaco A P; Horn N
Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
Human molecular genetics 1992;1(7):483-9.
1992: Maier E; Hoheisel J D; McCarthy L; Mott R; Grigoriev A V; Monaco A P; Larin Z; Lehrach H
Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes.
Nature genetics 1992;1(4):273-7.
1992: Bates G P; Valdes J; Hummerich H; Baxendale S; Le Paslier D L; Monaco A P; Tagle D; MacDonald M E; Altherr M; Ross M
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region.
Nature genetics 1992;1(3):180-7.
1992: Monaco A P; Walker A P; Millwood I; Larin Z; Lehrach H
A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene.
Genomics 1992;12(3):465-73.
1991: Monaco A P; Müller U; Larin Z; Meier-Ewert S; Lehrach H
Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome library.
Genomics 1991;11(4):1049-53.
1991: Monaco A P; Lam V M; Zehetner G; Lennon G G; Douglas C; Nizetic D; Goodfellow P N; Lehrach H
Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products.
Nucleic acids research 1991;19(12):3315-8.
1991: Larin Z; Monaco A P; Lehrach H
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(10):4123-7.
1991: Nizetic D; Zehetner G; Monaco A P; Gellen L; Young B D; Lehrach H
Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(8):3233-7.

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