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Papers authored by Weksberg R

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EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines.

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Grafodatskaya D, Choufani S, Ferreira JC, Butcher DT, Lou Y, Zhao C, Scherer SW, and Weksberg R

Genomics 95(2):73-83, 2010 Feb - Who cited this? | PubMed ID: 20005943 | Fulltext

Beckwith-Wiedemann syndrome.

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Weksberg R, Shuman C, and Beckwith JB

European journal of human genetics : EJHG 18(1):8-14, 2010 Jan - Who cited this? | PubMed ID: 19550435 | Fulltext

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-beta-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation.

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Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH,

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American journal of human genetics 85(6):909-15, 2009 Dec - Who cited this? | PubMed ID: 20004765 | Fulltext

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.

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Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, and Weksberg R

American journal of medical genetics. Part A 149A(11):2415-23, 2009 Nov - Who cited this? | PubMed ID: 19876907 | Fulltext

Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram.

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Ortiz-Neira CL, Traubici J, Alan D, Moineddin R, Shuman C, Weksberg R, and Epelman M

Clinics (Sao Paulo, Brazil) 64(1):41-4, 2009 Feb - Who cited this? | PubMed ID: 19142550 | Fulltext

The cycle of genome-directed medicine.

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Buchanan JA, Carson AR, Chitayat D, Malkin D, Meyn MS, Ray PN, Shuman C, Weksberg R, and Scherer SW

Genome medicine 1(2):16, 2009 - Who cited this? | PubMed ID: 19341487 | Fulltext

C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.

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Konen O, Armstrong D, Clarke H, Padfield N, Weksberg R, and Blaser S

Pediatric radiology 38(7):766-71, 2008 Jul - Who cited this? | PubMed ID: 18516601 | Fulltext

Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.

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Greer KJ, Kirkpatrick SJ, Weksberg R, and Pauli RM

American journal of medical genetics. Part A 146A(13):1707-12, 2008 Jul 1 - Who cited this? | PubMed ID: 18546283 | Fulltext

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

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Guo L, Choufani S, Ferreira J, Smith A, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, and Weksberg R

Developmental biology, 2008 Apr 27 - Who cited this? | PubMed ID: 18550048 | Fulltext

Structural variation of chromosomes in autism spectrum disorder.

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Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ,

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American journal of human genetics 82(2):477, 2008 Feb - Who cited this? | PubMed ID: 18252227 | Fulltext

Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.

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Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, and Weksberg R

American journal of medical genetics. Part A 143(24):3010-5, 2007 Dec 15 - Who cited this? | PubMed ID: 18000906 | Fulltext

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

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Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, and Weksberg R

American journal of medical genetics. Part A 143(24):2924-30, 2007 Dec 15 - Who cited this? | PubMed ID: 18000985 | Fulltext

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility.

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Weksberg R, Shuman C, Wilkins-Haug L, Mann M, Croughan M, Stewart D, Rakowsky C, Leader A, Hall J, Friedman JM, Simpson JL, Holmes L, and Infante-Rivard C

Fertility and sterility 88(1):27-31, 2007 Jul - Who cited this? | PubMed ID: 17442312 | Fulltext

Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.

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Bassett AS, Caluseriu O, Weksberg R, Young DA, and Chow EW

Biological psychiatry 61(10):1135-40, 2007 May 15 - Who cited this? | PubMed ID: 17217925 | Fulltext

Growth regulation, imprinted genes, and chromosome 11p15.5.

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Smith AC, Choufani S, Ferreira JC, and Weksberg R

Pediatric research 61(5 Pt 2):43, 2007 May - Who cited this? | PubMed ID: 17413842 | Fulltext

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

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Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B,

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Human mutation 28(3):265-72, 2007 Mar - Who cited this? | PubMed ID: 17054105 | Fulltext

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.

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Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, and Bassett AS

Human genetics 120(6):837-45, 2007 Feb - Who cited this? | PubMed ID: 17028864 | Fulltext

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

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Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, and Weksberg R

American journal of medical genetics. Part A 140(14):1497-503, 2006 Jul 15 - Who cited this? | PubMed ID: 16770802 | Fulltext

Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?.

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Shah PS, Weksberg R, and Chitayat D

American journal of medical genetics. Part A 140(12):1312-5, 2006 Jun 15 - Who cited this? | PubMed ID: 16691625 | Fulltext

Unbalanced placental expression of imprinted genes in human intrauterine growth restriction.

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McMinn J, Wei M, Schupf N, Cusmai J, Johnson EB, Smith AC, Weksberg R, Thaker HM, and Tycko B

Placenta 27(6-7):540 - Who cited this? | PubMed ID: 16125225 | Fulltext

An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.

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Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, and Scherer SW

Journal of medical genetics 43(5):429-34, 2006 May - Who cited this? | PubMed ID: 16556609 | Fulltext

Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11.

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Beatty L, Weksberg R, and Sadowski PD

Genomics 87(1):46-56, 2006 Jan - Who cited this? | PubMed ID: 16321503 | Fulltext

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.

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Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, and Weksberg R

Cytogenetic and genome research 113(1-4):313-7, 2006 - Who cited this? | PubMed ID: 16575195 | Fulltext

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.

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Cytrynbaum CS, Smith AC, Rubin T, and Weksberg R

Current opinion in pediatrics 17(6):740-6, 2005 Dec - Who cited this? | PubMed ID: 16282780 | Fulltext

Wilms tumor in an 11-year-old with hemihyperplasia.

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Carré A, Frantz CN, Weksberg R, Nicholson L, Ciarlo L, Zackai EH, and Gripp KW

American journal of medical genetics. Part A 139(2):165-6, 2005 Dec 1 - Who cited this? | PubMed ID: 16278900 | Fulltext

Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, and Gatzoulis MA

American journal of medical genetics. Part A 138(4):307-13, 2005 Nov 1 - Who cited this? | PubMed ID: 16208694 | Fulltext

Beckwith-Wiedemann syndrome.

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Weksberg R, Shuman C, and Smith AC

American journal of medical genetics. Part C, Seminars in medical genetics 137(1):12-23, 2005 Aug 15 - Who cited this? | PubMed ID: 16010676 | Fulltext

The adult phenotype in Costello syndrome.

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White SM, Graham JM, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, and Bankier A

American journal of medical genetics. Part A 136(2):128-35, 2005 Jul 15 - Who cited this? | PubMed ID: 15940703 | Fulltext

Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.

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Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Klüppel M, and Lin AE

American journal of medical genetics. Part A 133(1):1-12, 2005 Feb 15 - Who cited this? | PubMed ID: 15637729 | Fulltext

A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

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Weksberg R, Hughes S, Moldovan L, Bassett AS, Chow EW, and Squire JA

BMC genomics 6:180, 2005 - Who cited this? | PubMed ID: 16351727 | Fulltext

Predictors and mediators of psychological adjustment in mothers of children newly diagnosed with cancer.

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Barrera M, D'Agostino NM, Gibson J, Gilbert T, Weksberg R, and Malkin D

Psycho-oncology 13(9):630-41, 2004 Sep - Who cited this? | PubMed ID: 15334531 | Fulltext

Growth hormone deficiency in Costello syndrome.

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Stein RI, Legault L, Daneman D, Weksberg R, and Hamilton J

American journal of medical genetics. Part A 129(2):166-70, 2004 Aug 30 - Who cited this? | PubMed ID: 15316968 | Fulltext

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.

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Du M, Zhou W, Beatty LG, Weksberg R, and Sadowski PD

Genomics 84(2):288-300, 2004 Aug - Who cited this? | PubMed ID: 15233993 | Fulltext

CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer.

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Lew JM, Fei YL, Aleck K, Blencowe BJ, Weksberg R, and Sadowski PD

American journal of medical genetics. Part A 127(3):268-76, 2004 Jun 15 - Who cited this? | PubMed ID: 15150778 | Fulltext

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.

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Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, Lagarde AE,

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Gastroenterology 126(2):576-85, 2004 Feb - Who cited this? | PubMed ID: 14762794 | Fulltext

Postmaturity in a genetic subtype of schizophrenia.

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Chow EW, Husted J, Weksberg R, and Bassett AS

Acta psychiatrica Scandinavica 108(4):260-8, 2003 Oct - Who cited this? | PubMed ID: 12956826 | Fulltext

The schizophrenia phenotype in 22q11 deletion syndrome.

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Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, and Weksberg R

The American journal of psychiatry 160(9):1580-6, 2003 Sep - Who cited this? | PubMed ID: 12944331 | Fulltext

Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.

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Du M, Beatty LG, Zhou W, Lew J, Schoenherr C, Weksberg R, and Sadowski PD

Human molecular genetics 12(15):1927-39, 2003 Aug 1 - Who cited this? | PubMed ID: 12874112 | Fulltext

Human chromosome 7: DNA sequence and biology.

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Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA,

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Science (New York, N.Y.) 300(5620):767-72, 2003 May 2 - Who cited this? | PubMed ID: 12690205 | Fulltext

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.

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Weksberg R, Smith AC, Squire J, and Sadowski P

Human molecular genetics 12 Spec No 1:R61-8, 2003 Apr 1 - Who cited this? | PubMed ID: 12668598 | Fulltext

Hypercalciuria in Beckwith-Wiedemann syndrome.

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Goldman M, Shuman C, Weksberg R, and Rosenblum ND

The Journal of pediatrics 142(2):206-8, 2003 Feb - Who cited this? | PubMed ID: 12584548 | Fulltext

Schizophrenia and genetics: new insights.

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Bassett AS, Chow EW, Weksberg R, and Brzustowicz L

Current psychiatry reports 4(4):307-14, 2002 Aug - Who cited this? | PubMed ID: 12126600 | Fulltext

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

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Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, and Rosenblum ND

Journal of the American Society of Nephrology : JASN 13(8):2077-84, 2002 Aug - Who cited this? | PubMed ID: 12138139 | Fulltext

Further delineation of cardiac abnormalities in Costello syndrome.

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Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, and Nicholson L

American journal of medical genetics 111(2):115-29, 2002 Aug 1 - Who cited this? | PubMed ID: 12210337 | Fulltext

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.

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Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, and Scherer SW

Human molecular genetics 11(15):1743-56, 2002 Jul 15 - Who cited this? | PubMed ID: 12095916 | Fulltext

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

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Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, and Squire J

Human molecular genetics 11(11):1317-25, 2002 May 15 - Who cited this? | PubMed ID: 12019213 | Fulltext

Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS).

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Yoon G, Graham G, Weksberg R, Gaul HP, DeBaun MR, and Coppes MJ

Medical and pediatric oncology 38(3):193-9, 2002 Mar - Who cited this? | PubMed ID: 11836721 | Fulltext

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

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Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G,

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Nature genetics 30(2):215-20, 2002 Feb - Who cited this? | PubMed ID: 11799392 | Fulltext

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

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Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, and Scherer SW

Genomics 79(2):186-96, 2002 Feb - Who cited this? | PubMed ID: 11829489 | Fulltext

Detecting rearrangements in children using subtelomeric FISH and SKY.

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Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, and Teshima I

American journal of medical genetics 107(4):267-74, 2002 Feb 1 - Who cited this? | PubMed ID: 11840482 | Fulltext

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