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Rosanna Weksberg

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Katrina Tatton-Brown; Rosanna Weksberg
Molecular mechanisms of childhood overgrowth.
Pedro Castelo-Branco; Sanaa Choufani; Sidney Croul; Peter B Dirks; Cynthia Elizabeth; Denis Gallagher; Cynthia Hawkins; Johann Hitzler; Volker Hovestadt; David Tw Jones; Marcel Kool; Tatiana Lipman; Stephen Mack; David Malkin; Dianna Martin; Diana Merino; Stefan Pfister; Michael D Taylor; Erin J Walker; Jean Cy Wang; Jonathan D Wasserman; Rosanna Weksberg; Gelareh Zadeh; Cindy Zhang; Libo Zhang; Nataliya Zhukova; Noa Alon; Sylvain Baruchel; Uri Tabori
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study.
Sanaa Choufani; Cheryl Shuman; Rosanna Weksberg
Molecular findings in beckwith-wiedemann syndrome.

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All Publications

2013: Katrina Tatton-Brown; Rosanna Weksberg
Molecular mechanisms of childhood overgrowth.
American journal of medical genetics. Part C, Seminars in medical genetics 2013;163(2):71-5.
2013: Pedro Castelo-Branco; Sanaa Choufani; Sidney Croul; Peter B Dirks; Cynthia Elizabeth; Denis Gallagher; Cynthia Hawkins; Johann Hitzler; Volker Hovestadt; David Tw Jones; Marcel Kool; Tatiana Lipman; Stephen Mack; David Malkin; Dianna Martin; Diana Merino; Stefan Pfister; Michael D Taylor; Erin J Walker; Jean Cy Wang; Jonathan D Wasserman; Rosanna Weksberg; Gelareh Zadeh; Cindy Zhang; Libo Zhang; Nataliya Zhukova; Noa Alon; Sylvain Baruchel; Uri Tabori
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study.
The lancet oncology 2013;14(6):534-42.
2013: Sanaa Choufani; Cheryl Shuman; Rosanna Weksberg
Molecular findings in beckwith-wiedemann syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2013;163(2):131-40.
2013: Kihoon Han; Kazue Hashimoto-Torii; Yoontae Lee; Zhandong Liu; Michael C Oldham; Kaifang Pang; Chandrasekhar S Raju; Pasko Rakic; Rosanna Weksberg; Sanaa Choufani; Vincenzo Alessandro Gennarino; Huda Y Zoghbi
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p.
Genes & development 2013;27(5):485-90.
2013: Magan Trottier; Rosanna Weksberg; Wendy Roberts; Stephen W Scherer; Cheryl Shuman; David Chitayat; Cheryl S Cytrynbaum; Irene Drmic; Fiona A Miller
Parents' perspectives on participating in genetic research in autism.
Journal of autism and developmental disorders 2013;43(3):556-68.
2013: Daria Grafodatskaya; Cheryl Cytrynbaum; Rosanna Weksberg
The health risks of ART.
EMBO reports 2013;14(2):129-35.
2013: Yi-an Chen; Sanaa Choufani; Steven Gallinger; Daria Grafodatskaya; Thomas J Hudson; Mathieu Lemire; Darci T Butcher; Brent W Zanke; Rosanna Weksberg
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray.
Epigenetics : official journal of the DNA Methylation Society 2013;8(2):203-9.
2013: Daria Grafodatskaya; Jill Hamilton; Youliang Lou; Rageen Rajendram; Stephen W Scherer; Charles E Schwartz; Cindy Skinner; James Stavropoulos; Andrei L Turinsky; Fatima E Abidi; Carolyn A Bondy; Darci T Butcher; Yi-An Chen; Sanaa Choufani; Barian H Y Chung; Sarah J Goodman; Shoshana Wodak; Chunhua Zhao; Rosanna Weksberg
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
BMC medical genomics 2013;6():1.
2013: Michal Inbar-Feigenberg; Peter N Ray; Cheryl Shuman; Leslie Steele; Yi-An Chen; Sanaa Choufani; Cheryl S Cytrynbaum; Rosanna Weksberg
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
American journal of medical genetics. Part A 2013;161A(1):13-20.
2013: Kimberly A Aldinger; A James Barkovich; Brian Chung; Bridget Fernandez; Denise Horn; Virginia E Kimonis; Eva Klopocki; Jillene Kogan; Kathleen J Millen; Annick Toutain; Rosanna Weksberg; William B Dobyns
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
American journal of medical genetics. Part A 2013;161A(1):131-6.
2012: Nicole Martin; Marina Mikhaelian; Cheryl Shuman; Rosanna Weksberg; David A Chitayat; Cheryl Cytrynbaum; Anne S Bassett
22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness.
Journal of genetic counseling 2012;21(6):825-34.
2012: Yi-an Chen; Sanaa Choufani; Jose C Ferreira; Daria Grafodatskaya; Darci T Butcher; Rosanna Weksberg
Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation.
American journal of human genetics 2012;91(4):762-4.
2012: Brian Chung; Cynthia Hawkins; Aleksander Hinek; Sarah Keating; Vibhuti Shah; Rosanna Weksberg; Susan Blaser; David Chitayat
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
American journal of medical genetics. Part A 2012;158A(10):2373-81.
2012: Rodrigo L P Romão; Cheryl Shuman; Bryce Weber; Rosanna Weksberg; Darius J Bägli; Walid A Farhat; Victor Figueroa; J Ted Gerstle; Ronald Grant; Joao L Pippi-Salle; Armando J Lorenzo
Nephron sparing surgery for unilateral Wilms tumor in children with predisposing syndromes: single center experience over 10 years.
The Journal of urology 2012;188(4 Suppl):1493-8.
2012: Karen Y Niederhoffer; Maria S Peñaherrera; Denise Pugash; Wendy P Robinson; Rosemarie Rupps; Cheryl Shuman; Francine Tessier; Rosanna Weksberg; Chunhua Zhao; Laura Arbour; Sanaa Choufani; Irina Manokhina; Cornelius F Boerkoel
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
American journal of medical genetics. Part A 2012;158A(7):1662-9.
2012: Kate Gardiner; Shuye Pu; Peter N Ray; Rosemary Reiss; Cheryl Shuman; Deborah Terespolsky; Berivan Baskin; Susan Blaser; David Chitayat; Sanaa Choufani; Sandra Farrell; Shoshana Wodak; Rosanna Weksberg
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
American journal of medical genetics. Part A 2012;158A(6):1388-94.
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.
2012: Ally Murji; Andrew D Paterson; Leslie K Proctor; Rosanna Weksberg; David Chitayat; John Kingdom
Male sex bias in placental dysfunction.
American journal of medical genetics. Part A 2012;158A(4):779-83.
2012: Brian H Y Chung; Lucie Dupuis; Sarah H Elsea; Chumei Li; Anath C Lionel; Christian R Marshall; Sureni Mullegama; Stephen W Scherer; D James Stavropoulos; Rosanna Weksberg; Swaroop Aradhya; Lauren Brick; Roberto Mendoza-Londono
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
European journal of human genetics : EJHG 2012;20(4):398-403.
2011: M T Carter; C Fairbrother-Davies; Bridget A Fernandez; Ann M Joseph-George; A C Lionel; C R Marshall; S M Nikkel; C Noakes; A Noor; D Pinto; A Prasad; Wendy Roberts; J Vincent; Rosanna Weksberg; Stephen W Scherer
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Clinical genetics 2011;80(5):435-43.
2011: Brian H Y Chung; Irene Drmic; Bridget A Fernandez; Daria Grafodatskaya; Christian R Marshall; Wendy Roberts; Melissa Carter; Rosanna Weksberg; Stephen W Scherer
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
European journal of medical genetics 2011;54(5):e516-20.
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: Aaron Y L Cheung; Lindsay M Horvath; Daria Grafodatskaya; Peter Pasceri; Rosanna Weksberg; Akitsu Hotta; Laura Carrel; James Ellis
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
Human molecular genetics 2011;20(11):2103-15.
2011: Jose Carlos Ferreira; Sanaa Choufani; Daria Grafodatskaya; Darci T Butcher; Chunhua Zhao; David Chitayat; Cheryl Shuman; John Kingdom; Sarah Keating; Rosanna Weksberg
WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate.
Epigenetics : official journal of the DNA Methylation Society 2011;6(4):440-9.
2011: Rageen Rajendram; Jose Carlos Ferreira; Daria Grafodatskaya; Sanaa Choufani; Theodore Chiang; Shuye Pu; Darci T Butcher; Shoshana J Wodak; Rosanna Weksberg
Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms.
Epigenetics : official journal of the DNA Methylation Society 2011;6(4):410-5.
2011: Raffaella Nativio; Angela Sparago; Yoko Ito; Rosanna Weksberg; Andrea Riccio; Adele Murrell
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Human molecular genetics 2011;20(7):1363-74.
2011: Yi-an Chen; Sanaa Choufani; Jose Carlos Ferreira; Daria Grafodatskaya; Darci T Butcher; Rosanna Weksberg
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.
Genomics 2011;97(4):214-22.
2011: Sanaa Choufani; Jonathan S Shapiro; Martha Susiarjo; Darci T Butcher; Daria Grafodatskaya; Youliang Lou; Jose Carlos Ferreira; Dalila Pinto; Stephen W Scherer; Lisa G Shaffer; Philippe Coullin; Isabella Caniggia; Joseph Beyene; Rima Slim; Marisa S Bartolomei; Rosanna Weksberg
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.
Genome research 2011;21(3):465-76.
2011: Ariadna Grigoriu; Jose Carlos Ferreira; Sanaa Choufani; Dora Baczyk; John Kingdom; Rosanna Weksberg
Cell specific patterns of methylation in the human placenta.
Epigenetics : official journal of the DNA Methylation Society 2011;6(3):368-79.
2011: Brian H Y Chung; James Stavropoulos; Christian R Marshall; Rosanna Weksberg; Stephen W Scherer; Grace Yoon
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
American journal of medical genetics. Part A 2011;155A(2):424-9.
2010: Zhi-Xing Yao; Wilma Jogunoori; Sanaa Choufani; Asif Rashid; Tiffany Blake; Wenguo Yao; Peter Kreishman; Rupen Amin; Anton A Sidawy; Stephen R T Evans; Milton Finegold; E Premkumar Reddy; Bibhuti Mishra; Rosanna Weksberg; Rakesh Kumar; Lopa Mishra
Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome.
The Journal of biological chemistry 2010;285(46):36112-20.
2010: Sanaa Choufani; Cheryl Shuman; Rosanna Weksberg
Beckwith-Wiedemann syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(3):343-54.
2010: Rosanna Weksberg
Imprinted genes and human disease.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(3):317-20.
2010: Daria Grafodatskaya; Brian Chung; Peter Szatmari; Rosanna Weksberg
Autism spectrum disorders and epigenetics.
Journal of the American Academy of Child and Adolescent Psychiatry 2010;49(8):794-809.
2010: Bridget A Fernandez; Wendy Roberts; Brian Chung; Rosanna Weksberg; M Stephen Meyn; Peter Szatmari; Ann M Joseph-George; Sara Mackay; Kathy Whitten; Barbara Noble; Cathy Vardy; Victoria Crosbie; Sandra Luscombe; Eva Tucker; Lesley Turner; Christian R Marshall; Stephen W Scherer
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Journal of medical genetics 2010;47(3):195-203.
2010: Daria Grafodatskaya; S Choufani; Jose Carlos Ferreira; D T Butcher; Y Lou; C Zhao; Stephen W Scherer; Rosanna Weksberg
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines.
Genomics 2010;95(2):73-83.
2010: Rosanna Weksberg; Cheryl Shuman; J Bruce Beckwith
Beckwith-Wiedemann syndrome.
European journal of human genetics : EJHG 2010;18(1):8-14.
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: Shin-ichi Horike; Jose Carlos Ferreira; Makiko Meguro-Horike; Sanaa Choufani; Adam C Smith; Cheryl Shuman; Wendy Meschino; David Chitayat; Elaine Zackai; Stephen W Scherer; Rosanna Weksberg
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
American journal of medical genetics. Part A 2009;149A(11):2415-23.
2009: Janet A Buchanan; Andrew R Carson; David Chitayat; David Malkin; M Stephen Meyn; Peter N Ray; Cheryl Shuman; Rosanna Weksberg; Stephen W Scherer
The cycle of genome-directed medicine.
Genome medicine 2009;1(2):16.
2009: Clara L Ortiz-Neira; Jeffrey Traubici; Daneman Alan; Rahim Moineddin; Cheryl Shuman; Rosanna Weksberg; Monica Epelman
Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram.
Clinics (São Paulo, Brazil) 2009;64(1):41-4.
2008: Lin Guo; Sanaa Choufani; Jose Carlos Ferreira; Adam Smith; David Chitayat; Cheryl Shuman; Ruchita Uxa; Sarah Keating; John Kingdom; Rosanna Weksberg
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.
Developmental biology 2008;320(1):79-91.
2008: Kimberly J Greer; Susan J Kirkpatrick; Rosanna Weksberg; Richard M Pauli
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.
American journal of medical genetics. Part A 2008;146A(13):1707-12.
2008: Osnat Konen; Derek Armstrong; Howard Clarke; Nancy Padfield; Rosanna Weksberg; Susan Blaser
C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.
Pediatric radiology 2008;38(7):766-71.
2007: Andrea C Stachon; Berivan Baskin; Adam Smith; Andrea Shugar; Cheryl S Cytrynbaum; Leona Fishman; Roberto Mendoza-Londono; Regan Klatt; Ahmad S Teebi; Peter N Ray; Rosanna Weksberg
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
American journal of medical genetics. Part A 2007;143A(24):2924-30.
2007: Adam Smith; Cheryl Shuman; David Chitayat; Leslie Steele; Peter N Ray; Jaqueline Bourgeois; Rosanna Weksberg
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
American journal of medical genetics. Part A 2007;143A(24):3010-5.
2007: Rosanna Weksberg; Cheryl Shuman; Louise Wilkins-Haug; Mellissa Mann; Mary S Croughan; Donna Stewart; Catherine Rakowsky; Arthur Leader; Judith Hall; J M Friedman; Joe Simpson; Lewis Holmes; Claire Infante-Rivard
Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility.
Fertility and sterility 2007;88(1):27-31.
2007: Anne S Bassett; Oana Caluseriu; Rosanna Weksberg; Donald A Young; Eva W C Chow
Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.
Biological psychiatry 2007;61(10):1135-40.
2007: Adam Smith; Sanaa Choufani; Jose Carlos Ferreira; Rosanna Weksberg
Growth regulation, imprinted genes, and chromosome 11p15.5.
Pediatric research 2007;61(5 Pt 2):43R-47R.
2007: Giuseppe Zampino; Francesca Pantaleoni; Claudio Carta; Gilda Cobellis; Isabella Vasta; Cinzia Neri; Edgar A Pogna; Emma De Feo; Angelica Delogu; Anna Sarkozy; Francesca Atzeri; Angelo Selicorni; Katherine A Rauen; Cheryl S Cytrynbaum; Rosanna Weksberg; Bruno Dallapiccola; Andrea Ballabio; Bruce D Gelb; Giovanni Neri; Marco Tartaglia
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Human mutation 2007;28(3):265-72.
2007: Rosanna Weksberg; Andrea C Stachon; Jeremy A Squire; Laura Moldovan; Jane Bayani; M Stephen Meyn; Eva Chow; Anne S Bassett
Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.
Human genetics 2007;120(6):837-45.
2006: Cheryl Shuman; Adam Smith; Leslie Steele; Peter N Ray; Carol L Clericuzio; Elaine Zackai; Melissa A Parisi; Anna T Meadows; Thaddeus Kelly; David Tichauer; Jeremy A Squire; Paul D Sadowski; Rosanna Weksberg
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.
American journal of medical genetics. Part A 2006;140(14):1497-503.
2006: Prakesh S Shah; Rosanna Weksberg; David Chitayat
Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?
American journal of medical genetics. Part A 2006;140(12):1312-5.
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.
2006: Adam Smith; T Rubin; Cheryl Shuman; L Estabrooks; Arthur S Aylsworth; M T McDonald; Leslie Steele; Peter N Ray; Rosanna Weksberg
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.
Cytogenetic and genome research 2006;113(1-4):313-7.
2006: Linda G Beatty; Rosanna Weksberg; Paul D Sadowski
Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11.
Genomics 2006;87(1):46-56.
2005: Cheryl S Cytrynbaum; Adam Smith; Tamar Rubin; Rosanna Weksberg
Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.
Current opinion in pediatrics 2005;17(6):740-6.
2005: Amanda Carré; Christopher Frantz; Rosanna Weksberg; Linda Nicholson; Lynn Ciarlo; Elaine H Zackai; Karen W Gripp
Wilms tumor in an 11-year-old with hemihyperplasia.
American journal of medical genetics. Part A 2005;139A(2):165-6.
2005: Anne S Bassett; Eva W C Chow; Janice Husted; Rosanna Weksberg; Oana Caluseriu; Gary D Webb; Michael A Gatzoulis
Clinical features of 78 adults with 22q11 Deletion Syndrome.
American journal of medical genetics. Part A 2005;138(4):307-13.
2005: Rosanna Weksberg; Cheryl Shuman; Adam Smith
Beckwith-Wiedemann syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2005;137C(1):12-23.
2005: Susan M White; John M Graham; B Kerr; Karen W Gripp; Rosanna Weksberg; Cheryl S Cytrynbaum; J L Reeder; F J Stewart; M Edwards; M Wilson; Agnes Bankier
The adult phenotype in Costello syndrome.
American journal of medical genetics. Part A 2005;136(2):128-35.
2005: Aleksander Hinek; Michael A Teitell; Lisa Schoyer; William Allen; Karen W Gripp; Robert Hamilton; Rosanna Weksberg; Michael Klüppel; Angela E Lin
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.
American journal of medical genetics. Part A 2005;133A(1):1-12.
2005: Rosanna Weksberg; Simon Hughes; Laura Moldovan; Anne S Bassett; Eva W C Chow; Jeremy A Squire
A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
BMC genomics 2005;6():180.
2004: Maru Barrera; Norma M D'Agostino; Julie Gibson; Thomas Gilbert; Rosanna Weksberg; David Malkin
Predictors and mediators of psychological adjustment in mothers of children newly diagnosed with cancer.
Psycho-oncology 2004;13(9):630-41.
2004: Robert I Stein; Laurent Legault; Denis Daneman; Rosanna Weksberg; Jill Hamilton
Growth hormone deficiency in Costello syndrome.
American journal of medical genetics. Part A 2004;129A(2):166-70.
2004: Minjie Du; Wenjing Zhou; Linda G Beatty; Rosanna Weksberg; Paul D Sadowski
The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.
Genomics 2004;84(2):288-300.
2004: Jocelyne M Lew; Yan-Ling Fei; Kirk Aleck; Benjamin J Blencowe; Rosanna Weksberg; Paul D Sadowski
CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer.
American journal of medical genetics. Part A 2004;127A(3):268-76.
2004: Steven Gallinger; Melyssa Aronson; Katayoon Shayan; Elyanne M Ratcliffe; J Ted Gerstle; Patricia C Parkin; Heidi Rothenmund; Marina E Croitoru; Ewa Baumann; Peter Roy Durie; Rosanna Weksberg; Aaron Pollett; Robert H Riddell; Bo-Yee Ngan; Ernest Cutz; Alain E Lagarde; Helen S L Chan
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.
Gastroenterology 2004;126(2):576-85.
2003: Eva W C Chow; Janice Husted; Rosanna Weksberg; Anne S Bassett
Postmaturity in a genetic subtype of schizophrenia.
Acta psychiatrica Scandinavica 2003;108(4):260-8.
2003: Anne S Bassett; Eva W C Chow; Philip AbdelMalik; Mirona Gheorghiu; Janice Husted; Rosanna Weksberg
The schizophrenia phenotype in 22q11 deletion syndrome.
The American journal of psychiatry 2003;160(9):1580-6.
2003: Minjie Du; Linda G Beatty; Wenjing Zhou; Jocelyne M Lew; Christopher Schoenherr; Rosanna Weksberg; Paul D Sadowski
Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.
Human molecular genetics 2003;12(15):1927-39.
2003: Rosanna Weksberg; Adam Smith; Jeremy Squire; Paul D Sadowski
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
Human molecular genetics 2003;12 Spec No 1():R61-8.
2003: Michael Goldman; Cheryl Shuman; Rosanna Weksberg; Norman D Rosenblum
Hypercalciuria in Beckwith-Wiedemann syndrome.
The Journal of pediatrics 2003;142(2):206-8.
2002: Angela E Lin; Paul D Grossfeld; Robert Murray Hamilton; Leslie Smoot; Karen W Gripp; Virginia Proud; Rosanna Weksberg; Patricia Wheeler; Jonathan Picker; Mira Irons; Elaine Zackai; Bradley Marino; Charles I Scott; Linda Nicholson
Further delineation of cardiac abnormalities in Costello syndrome.
American journal of medical genetics 2002;111(2):115-29.
2002: Michael Goldman; Adam Smith; Cheryl Shuman; Oana Caluseriu; Chihong Wei; Leslie Steele; Peter Ray; Paul D Sadowski; Jeremy Squire; Rosanna Weksberg; Norman D Rosenblum
Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
Journal of the American Society of Nephrology : JASN 2002;13(8):2077-84.
2002: Anne S Bassett; Eva W C Chow; Rosanna Weksberg; Linda M Brzustowicz
Schizophrenia and genetics: new insights.
Current psychiatry reports 2002;4(4):307-14.
2002: Kazuhiko Nakabayashi; Louise Bentley; Megan P Hitchins; Kohzoh Mitsuya; Makiko Meguro; Sachi Minagawa; John S Bamforth; Philip Stanier; Michael Preece; Rosanna Weksberg; Mitsuo Oshimura; Gudrun E Moore; Stephen W Scherer
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Human molecular genetics 2002;11(15):1743-56.
2002: Rosanna Weksberg; Cheryl Shuman; Oana Caluseriu; Adam Smith; Yan-Ling Fei; Joy Nishikawa; Tracy L Stockley; Lyle Best; David Chitayat; Ann Olney; Elizabeth Ives; Adele Schneider; Timothy H Bestor; Madeline Li; Paul D Sadowski; Jeremy Squire
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Human molecular genetics 2002;11(11):1317-25.
2002: Grace Yoon; Gail Graham; Rosanna Weksberg; H Penney Gaul; Michael R DeBaun; Max J Coppes
Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS).
Medical and pediatric oncology 2002;38(3):193-9.
2002: Blaise Clarkson; Katerina Pavenski; Lucie Dupuis; Shelley Kennedy; M Stephen Meyn; Marjan M Nezarati; Gloria Nie; Rosanna Weksberg; Stephen Withers; Nada Quercia; Ahmad S Teebi; Ikuko Teshima
Detecting rearrangements in children using subtelomeric FISH and SKY.
American journal of medical genetics 2002;107(4):267-74.
2002: Kazuhiko Nakabayashi; Bridget A Fernandez; Ikuko Teshima; Cheryl Shuman; Virginia K Proud; Cynthia J Curry; David Chitayat; Theresa Grebe; Jeffrey Ming; Mitsuo Oshimura; Makiko Meguro; Kohzoh Mitsuya; Paromita Deb-Rinker; Jo-Anne Herbrick; Rosanna Weksberg; Stephen W Scherer
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Genomics 2002;79(2):186-96.
2001: Rosanna Weksberg; Joy Nishikawa; Oana Caluseriu; Yan-Ling Fei; Cheryl Shuman; C Wei; Leslie Steele; J Cameron; Adam Smith; I Ambus; Madeline Li; Peter N Ray; Paul D Sadowski; Jeremy Squire
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Human molecular genetics 2001;10(26):2989-3000.
2001: LE Scutt; Eva W C Chow; Rosanna Weksberg; William Honer; Anne S Bassett
Patterns of dysmorphic features in schizophrenia.
American journal of medical genetics 2001;105(8):713-23.
2001: Adam Smith; Jeremy A Squire; Paul Thorner; Maria Zielenska; Cheryl Shuman; R Grant; David Chitayat; Joy Nishikawa; Rosanna Weksberg
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2001;4(6):550-8.
2001: Madeline Li; Cheryl Shuman; Yan-Ling Fei; E Cutiongco; H A Bender; C Stevens; Louise Wilkins-Haug; D Day-Salvatore; S L Yong; M T Geraghty; Jeremy Squire; Rosanna Weksberg
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
American journal of medical genetics 2001;102(2):161-8.
2001: K Lazier; Eva W C Chow; Philip AbdelMalik; LE Scutt; Rosanna Weksberg; Anne S Bassett
Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia.
Schizophrenia research 2001;50(3):177-80.
2001: Madeline Li; Jeremy Squire; Cheryl Shuman; Yan-Ling Fei; J Atkin; R Pauli; Adam Smith; Joy Nishikawa; David Chitayat; Rosanna Weksberg
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
Genomics 2001;74(3):370-6.
2001: T Hopyan; M Dennis; Rosanna Weksberg; Cheryl S Cytrynbaum
Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2001;7(1):42-53.
2000: Ikuko Teshima; Erawati V Bawle; Rosanna Weksberg; Cheryl Shuman; Daniel L Van Dyke; Stuart Schwartz
Analphoid 3qter markers.
American journal of medical genetics 2000;94(2):113-9.
2000: Atsushi Tsugu; K Sakai; Peter B Dirks; S Jung; Rosanna Weksberg; Y L Fei; Soma Mondal; Stacey M Ivanchuk; Cameron Ackerley; Paul A Hamel; James T Rutka
Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescence.
The American journal of pathology 2000;157(3):919-32.
2000: David B Everman; Cheryl Shuman; B Dzolganovski; Mary Ann O'Riordan; Rosanna Weksberg; Nathaniel H Robin
Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome.
The Journal of pediatrics 2000;137(1):123-7.
2000: Jeremy A Squire; Madeline Li; S Perlikowski; Yan-Ling Fei; Jane Bayani; Z M Zhang; Rosanna Weksberg
Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
Genomics 2000;65(3):234-42.
2000: Aleksander Hinek; Adam Smith; E M Cutiongco; John W Callahan; Karen W Gripp; Rosanna Weksberg
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.
American journal of human genetics 2000;66(3):859-72.
2000: Anne S Bassett; Eva W C Chow; Rosanna Weksberg
Chromosomal abnormalities and schizophrenia.
American journal of medical genetics 2000;97(1):45-51.
1999: Eva W C Chow; David J Mikulis; Robert B Zipursky; LE Scutt; Rosanna Weksberg; Anne S Bassett
Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.
Biological psychiatry 1999;46(10):1436-42.
1999: Gayle B Collin; Jan D Marshall; Cornelius F Boerkoel; A V Levin; Rosanna Weksberg; J Greenberg; J L Michaud; Jürgen K Naggert; Patsy M Nishina
Alström syndrome: further evidence for linkage to human chromosome 2p13.
Human genetics 1999;105(5):474-9.
1999: E Cohen; Eva W C Chow; Rosanna Weksberg; Anne S Bassett
Phenotype of adults with the 22q11 deletion syndrome: A review.
American journal of medical genetics 1999;86(4):359-65.
1998: M Li; Jeremy A Squire; Rosanna Weksberg
Molecular genetics of Wiedemann-Beckwith syndrome.
American journal of medical genetics 1998;79(4):253-9.
1998: Anne S Bassett; Kathleen A Hodgkinson; Eva W C Chow; S Correia; LE Scutt; Rosanna Weksberg
22q11 deletion syndrome in adults with schizophrenia.
American journal of medical genetics 1998;81(4):328-37.
1998: Cornelius F Boerkoel; Malgorzata J M Nowaczyk; Susan I Blaser; W S Meschino; Rosanna Weksberg
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.
American journal of medical genetics 1998;78(2):118-22.
1998: Manuel Carcao; Susan I Blaser; R M Grant; Rosanna Weksberg; J Siegel-Bartelt
MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.
American journal of medical genetics 1998;76(2):165-7.
1998: Madeline Li; Jeremy A Squire; Rosanna Weksberg
Overgrowth syndromes and genomic imprinting: from mouse to man.
Clinical genetics 1998;53(3):165-70.
1997: Madeline Li; Jeremy A Squire; Rosanna Weksberg
Molecular genetics of Beckwith-Wiedemann syndrome.
Current opinion in pediatrics 1997;9(6):623-9.
1997: HK Wu; Jeremy A Squire; C G Catzavelos; Rosanna Weksberg
Relaxation of imprinting of human insulin-like growth factor II gene, IGF2, in sporadic breast carcinomas.
Biochemical and biophysical research communications 1997;235(1):123-9.
1997: Gregory E Hannigan; Jane Bayani; Rosanna Weksberg; BG Beatty; Ajay Pandita; Shoukat Dedhar; Jeremy Squire
Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4.
Genomics 1997;42(1):177-9.
1997: CA Moore; Helga V Toriello; DN Abuelo; MJ Bull; Cynthia J Curry; B D Hall; J V Higgins; CA Stevens; S Twersky; Rosanna Weksberg; William B Dobyns
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
American journal of medical genetics 1997;70(1):67-73.
1997: HK Wu; Jeremy A Squire; Q Song; Rosanna Weksberg
Promoter-dependent tissue-specific expressive nature of imprinting gene, insulin-like growth factor II, in human tissues.
Biochemical and biophysical research communications 1997;233(1):221-6.
1997: HK Wu; Rosanna Weksberg; Mark D Minden; Jeremy A Squire
Loss of imprinting of human insulin-like growth factor II gene, IGF2, in acute myeloid leukemia.
Biochemical and biophysical research communications 1997;231(2):466-72.
1996: J McGrory; Rosanna Weksberg; P Thorner; William G Cole
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.
Clinical genetics 1996;50(6):442-5.
1996: Rosanna Weksberg; Jeremy A Squire
Molecular biology of Beckwith-Wiedemann syndrome.
Medical and pediatric oncology 1996;27(5):462-9.
1996: D Malkin; K Australie; C Shuman; M Barrera; Rosanna Weksberg
Parental attitudes to genetic counseling and predictive testing for childhood cancer.
American journal of human genetics 1996;59(4):A7.
1996: Ikuko Teshima; D Chadwick; David Chitayat; J Kobayashi; P Ray; C Shuman; J Siegel-Bartelt; P Strasberg; Rosanna Weksberg
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
American journal of medical genetics 1996;62(3):217-23.
1996: Rosanna Weksberg; Jeremy A Squire; D M Templeton
Glypicans: a growing trend.
Nature genetics 1996;12(3):225-7.
1995: D Terespolsky; S A Farrell; J Siegel-Bartelt; Rosanna Weksberg
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
American journal of medical genetics 1995;59(3):329-33.
1995: Joanne Rovet; K Krekewich; K Perlman; Rosanna Weksberg; J Holland; Annette Feigenbaum
Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20.
Developmental medicine and child neurology 1995;37(7):637-44.
1994: Eva W C Chow; Anne S Bassett; Rosanna Weksberg
Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics.
American journal of medical genetics 1994;54(2):107-12.
1994: D Scolnik; Irena Nulman; Joanne Rovet; D Gladstone; D Czuchta; H A Gardner; R Gladstone; P Ashby; Rosanna Weksberg; Thomas R Einarson
Neurodevelopment of children exposed in utero to phenytoin and carbamazepine monotherapy.
JAMA : the journal of the American Medical Association 1994;271(10):767-70.
1994: Annette Feigenbaum; C Bergeron; R Richardson; J Wherrett; B Robinson; Rosanna Weksberg
Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome?
American journal of medical genetics 1994;49(1):118-24.
1993: Jeremy Squire; Maria Zielenska; P Thorner; S Tennyson; S Weitzman; K M Pai; Herman Yeger; Y K Ng; Rosanna Weksberg
Variant translocations of chromosome 22 in Ewing's sarcoma.
Genes, chromosomes & cancer 1993;8(3):190-4.
1993: Rosanna Weksberg; D R Shen; Y L Fei; Q L Song; J Squire
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
Nature genetics 1993;5(2):143-50.
1993: Rosanna Weksberg; Ikuko Teshima; Bryan R G Williams; C R Greenberg; S M Pueschel; J E Chernos; S B Fowlow; E Hoyme; I J Anderson; D A Whiteman
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
Human molecular genetics 1993;2(5):549-56.
1992: Max J Coppes; L Bonetta; A Huang; Paul Hoban; S Chilton-MacNeill; Christine E Campbell; Rosanna Weksberg; Herman Yeger; Anthony E Reeve; Bryan R G Williams
Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination.
Genes, chromosomes & cancer 1992;5(4):326-34.
1992: K Graham; Annette Feigenbaum; A Pastuszak; Irena Nulman; Rosanna Weksberg; Thomas R Einarson; S Goldberg; S Ashby; Gideon Koren
Pregnancy outcome and infant development following gestational cocaine use by social cocaine users in Toronto, Canada.
Clinical and investigative medicine. Médecine clinique et experimentale 1992;15(4):384-94.
1990: Rosanna Weksberg; M Glaves; Ikuko Teshima; M Waziri; S Patil; Bryan R G Williams
Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.
Genomics 1990;8(4):693-8.
1989: Gideon Koren; D Demitrakoudis; Rosanna Weksberg; M Rieder; N H Shear; M Sonely; B Shandling; SP Spielberg
Neuroblastoma after prenatal exposure to phenytoin: cause and effect?
Teratology 1989;40(2):157-62.
1988: Rosanna Weksberg; C Smith; L Anson-Cartwright; K Maloney
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin.
American journal of human genetics 1988;42(6):816-24.