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1

Autism Spectrum Disorders and Epigenetics

Grafodatskaya, Daria, Chung, Brian, Szatmari, Peter, Weksberg, Rosanna

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2010

Language:

english

File:

PDF, 716 KB

english, 2010

2

Beckwith–Wiedemann syndrome

Sanaa Choufani, Cheryl Shuman, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

3

Molecular biology of Beckwith-Wiedemann syndrome

Weksberg, R., Squire, J. A.

Journal:

Medical and Pediatric Oncology

Year:

1996

Language:

english

File:

PDF, 1.27 MB

english, 1996

4

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

Kimberly J. Greer, Susan J. Kirkpatrick, Rosanna Weksberg, Richard M. Pauli

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 111 KB

english, 2008

5

Beckwith–Wiedemann syndrome

Weksberg, Rosanna, Shuman, Cheryl, Beckwith, J Bruce

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 476 KB

english, 2009

6

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

Rosanna Weksberg, Cheryl Shuman, Louise Wilkins-Haug, Mellissa Mann, Mary Croughan, Donna Stewart, Catherine Rakowsky, Arthur Leader, Judith Hall, J.M. Friedman, Joe Leigh Simpson, Lewis Holmes, Clair

Journal:

Fertility and Sterility

Year:

2007

Language:

english

File:

PDF, 76 KB

english, 2007

7

Clinically relevant copy number variations detected in cerebral palsy

Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosa

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 279 KB

english, 2015

8

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Tammimies, Kristiina, Marshall, Christian R., Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C., Yuen, Ryan K. C., Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbur

Journal:

JAMA The Journal of the American Medical Association

Year:

2015

Language:

english

File:

PDF, 333 KB

english, 2015

9

FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes

Teshima, I., Chadwick, D., Chitayat, D., Kobayashi, J., Ray, P., Shuman, C., Siegel-Bartelt, J., Strasberg, P., Weksberg, R.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 998 KB

english, 1996

10

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

Moore, Cynthia A., Toriello, Helga V., Abuelo, Dianne N., Bull, Marilyn J., Curry, Cynthia J. R., Hall, Bryan D., Higgins, James V., Stevens, Cathy A., Twersky, Sivya, Weksberg, Rosanna, Dobyns, Willi

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.10 MB

english, 1997

11

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita

Carcao, Manuel, Blaser, Susan I., Grant, Ronald M., Weksberg, Rosanna, Siegel-Bartelt, Jacqueline

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 266 KB

english, 1998

12

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon

Boerkoel, Cornelius F., Nowaczyk, Malgorzata J.M., Blaser, Susan I., Meschino, Wendy S., Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 212 KB

english, 1998

13

22q11 deletion syndrome in adults with schizophrenia

Bassett, Anne S., Hodgkinson, Kathy, Chow, Eva W.C., Correia, Susana, Scutt, Laura E., Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 244 KB

english, 1998

14

Molecular genetics of Wiedemann-Beckwith syndrome

Li, Madeline, Squire, Jeremy A., Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 132 KB

english, 1998

15

Introduction to Overgrowth syndromes

Neri, Giovanni, Cohen, M. Michael, Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

16

Cardiac anomalies in the Simpson-Golabi-Behmel syndrome

Lin, Angela E., Neri, Giovanni, Hughes-Benzie, Rhiannon, Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 59 KB

english, 1999

17

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

Biesecker, Leslie G., Happle, Rudolf, Mulliken, John B., Weksberg, Rosanna, Graham, John M., Viljoen, Denis L., Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 396 KB

english, 1999

18

Phenotype of adults with the 22q11 deletion syndrome: A review

Cohen, Eyal, Chow, Eva W. C., Weksberg, Rosanna, Bassett, Anne S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 86 KB

english, 1999

19

Chromosomal abnormalities and schizophrenia

Bassett, Anne S., Chow, Eva W.C., Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 119 KB

english, 2000

20

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion

PJ Ainsworth, PK Chakraborty, R Weksberg

Journal:

Year:

1997

Language:

english

File:

PDF, 194 KB

english, 1997

21

Analphoid 3qter markers

Ikuko Teshima, Erawati V. Bawle, Rosanna Weksberg, Cheryl Shuman, Daniel L. Van Dyke, Stuart Schwartz

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 1.88 MB

english, 2000

22

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

Madeline Li, Cheryl Shuman, Yan Ling Fei, Eva Cutiongco, H.A. Bender, C. Stevens, L. Wilkins-Haug, D. Day-Salvatore, S.L. Yong, M.T. Geraghty, Jeremy Squire, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 283 KB

english, 2001

23

Detecting rearrangements in children using subtelomeric FISH and SKY

Blaise Clarkson, Katerina Pavenski, Lucie Dupuis, Shelley Kennedy, Stephen Meyn, Marjan M. Nezarati, Gloria Nie, Rosanna Weksberg, Stephen Withers, Nada Quercia, Ahmad S. Teebi, Ikuko Teshima

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 477 KB

english, 2002

24

Further delineation of cardiac abnormalities in Costello syndrome

Angela E. Lin, Paul D. Grossfeld, Robert M. Hamilton, Leslie Smoot, Karen W. Gripp, Virginia Proud, Rosanna Weksberg, Patricia Wheeler, Jonathan Picker, Mira Irons, Elaine Zackai, Bradley Marino, Char

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

25

Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome?

Annette Feigenbaum, Catherine Bergeron, Robert Richardson, John Wherrett, Brian Robinson, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 701 KB

english, 1994

26

Wiedemann-Beckwith syndrome: Genomic imprinting revisited

Dr. Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 220 KB

english, 1994

27

Velo-cardio-facial syndrome and psychotic disorders: Implications for psychiatric genetics

Eva W. C. Chow, Dr. Anne S. Bassett, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 643 KB

english, 1994

28

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

D. Terespolsky, S. A. Farrell, J. Siegel-Bartelt, Dr. R. Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 487 KB

english, 1995

29

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith Syndrome

C.L. Barr, L. Best, R. Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 148 KB

english, 2001

30

Patterns of dysmorphic features in schizophrenia

L.E. Scutt, E.W.C. Chow, R. Weksberg, W.G. Honer, Anne S. Bassett

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

31

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

Jocelyne M. Lew, Yan Ling Fei, Kirk Aleck, Benjamin J. Blencowe, Rosanna Weksberg, Paul D. Sadowski

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 361 KB

english, 2004

32

Growth hormone deficiency in Costello syndrome

Robert I. Stein, Laurent Legault, Denis Daneman, Rosanna Weksberg, Jill Hamilton

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 332 KB

english, 2004

33

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

Aleksander Hinek, Michael A. Teitell, Lisa Schoyer, William Allen, Karen W. Gripp, Robert Hamilton, Rosanna Weksberg, Michael Klüppel, Angela E. Lin

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 1.47 MB

english, 2005

34

The adult phenotype in Costello syndrome

Susan M. White, J.M. Graham Jr, B. Kerr, K. Gripp, R. Weksberg, C. Cytrynbaum, J.L. Reeder, F.J. Stewart, M. Edwards, M. Wilson, A. Bankier

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 254 KB

english, 2005

35

Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005)

Susaan M. White, J.M. Graham Jr., B. Kerr, K. Gripp, R. Weksberg, C. Cytrynbaum, J.L. Reeder, F.J. Stewart, M. Edwards, M. Wilson, A. Bankier

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 29 KB

english, 2005

36

Clinical features of 78 adults with 22q11 deletion syndrome

Anne S. Bassett, Eva W.C. Chow, Janice Husted, Rosanna Weksberg, Oana Caluseriu, Gary D. Webb, Michael A. Gatzoulis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

37

Wilms tumor in an 11-year-old with hemihyperplasia

Amanda Carré, Christopher N. Frantz, Rosanna Weksberg, Linda Nicholson, Lynn Ciarlo, Elaine H. Zackai, Karen W. Gripp

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

38

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

Prakesh S. Shah, Rosanna Weksberg, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

39

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

Adam C. Smith, Cheryl Shuman, David Chitayat, Leslie Steele, Peter N. Ray, Jaqueline Bourgeois, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 226 KB

english, 2007

40

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

Andrea C. Stachon, Berivan Baskin, Adam C. Smith, Andrea Shugar, Cheryl Cytrynbaum, Leona Fishman, Roberto Mendoza-Londono, Regan Klatt, Ahmed Teebi, Peter N. Ray, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

41

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

Shin-Ichi Horike, Jose Carlos P. Ferreira, Makiko Meguro-Horike, Sanaa Choufani, Adam C. Smith, Cheryl Shuman, Wendy Meschino, David Chitayat, Elaine Zackai, Stephen W. Scherer, Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

42

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

Brian H.Y. Chung, James Stavropoulos, Christian R. Marshall, Rosanna Weksberg, Stephen W. Scherer, Grace Yoon

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 252 KB

english, 2011

43

Beckwith–Wiedemann syndrome

Rosanna Weksberg, Cheryl Shuman, Adam C. Smith

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 302 KB

english, 2005

44

Imprinted genes and human disease

Rosanna Weksberg

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

45

Effects of dimerization of Serratia marcescens endonuclease on water dynamics

Chuanying Chen, Brian W. Beck, Kurt Krause, Tiffany E. Weksberg, B. Montgomery Pettitt

Journal:

Year:

2007

Language:

english

File:

PDF, 477 KB

english, 2007

46

Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination

Max J. Coppes, Laura Bonetta, Annie Huang, Paul Hoban, Susan Chilton-MacNeill, Chris E. Campbell, Rosanna Weksberg, Herman Yeger, Antony E. Reeve, Bryan R. G. Williams

Journal:

Genes, Chromosomes and Cancer

Year:

1992

Language:

english

File:

PDF, 748 KB

english, 1992

47

Variant translocations of chromosome 22 in Ewing's sarcoma

Jeremy Squire, Maria Zielenska, Paul Thorner, Shan Tennyson, Sheila Weitzman, K. Mohan Pai, Herman Yeger, Y-Kwan Ng, Rosanna Weksberg

Journal:

Genes, Chromosomes and Cancer

Year:

1993

Language:

english

File:

PDF, 448 KB

english, 1993

48

Localization of beckwith-wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5

Sheila N. J. Salt, Norma J. Nowak, Pal Singh-Kahlon, Rosanna Weksberg, Jeremy Squire, Dr. Thomas B. Shows, Michael J. Higgins

Journal:

Genes, Chromosomes and Cancer

Year:

1994

Language:

english

File:

PDF, 1.46 MB

english, 1994

49

Specific cellular defects in patients with Fanconi anemia

Rosanna Weksberg, Manuel Buchwald, Patricia Sargent, Margaret W. Thompson, Louis Siminovitch

Journal:

Journal of Cellular Physiology

Year:

1979

Language:

english

File:

PDF, 967 KB

english, 1979

50

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

Grace Yoon, Gail Graham, Rosanna Weksberg, H. Penney Gaul, Michael R. DeBaun, Max J. Coppes

Journal:

Pediatric Blood & Cancer

Year:

2002

Language:

english

File:

PDF, 104 KB

english, 2002