Works matching AU Weksberg, Rosanna A.

Results: 98

Cover Image.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 7, p. i, doi. 10.1002/pd.5982

By:

Abbasi, Nimrah;
Moore, Aideen;
Chiu, Priscilla;
Ryan, Greg;
Weksberg, Rosanna;
Shuman, Cheryl;
Steele, Leslie;
Chitayat, David

Publication type:

Article

Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith‐Wiedemann syndrome.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 7, p. 798, doi. 10.1002/pd.5930

By:

Abbasi, Nimrah;
Moore, Aideen;
Chiu, Priscilla;
Ryan, Greg;
Weksberg, Rosanna;
Shuman, Cheryl;
Steele, Leslie;
Chitayat, David

Publication type:

Article

EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1722, doi. 10.1002/humu.24076

By:

Turinsky, Andrei L.;
Choufani, Sanaa;
Lu, Kevin;
Liu, Da;
Mashouri, Pouria;
Min, Daniel;
Weksberg, Rosanna;
Brudno, Michael

Publication type:

Article

A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7 A: Association with Autistic Spectrum Disorder in Two Families.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1295, doi. 10.1002/humu.22683

By:

Metsu, Sofie;
Rainger, Jacqueline K.;
Debacker, Kim;
Bernhard, Birgitta;
Rooms, Liesbeth;
Grafodatskaya, Daria;
Weksberg, Rosanna;
Fombonne, Eric;
Taylor, Martin S.;
Scherer, Stephen W.;
Kooy, R. Frank;
FitzPatrick, David R.

Publication type:

Article

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

Published in:

Human Mutation, 2007, v. 28, n. 3, p. 265, doi. 10.1002/humu.20431

By:

Zampino, Giuseppe;
Pantaleoni, Francesca;
Carta, Claudio;
Cobellis, Gilda;
Vasta, Isabella;
Neri, Cinzia;
Pogna, Edgar A.;
De Feo, Emma;
Delogu, Angelica;
Sarkozy, Anna;
Atzeri, Francesca;
Selicorni, Angelo;
Rauen, Katherine A.;
Cytrynbaum, Cheryl S.;
Weksberg, Rosanna;
Dallapiccola, Bruno;
Ballabio, Andrea;
Gelb, Bruce D.;
Neri, Giovanni;
Tartaglia, Marco

Publication type:

Article

Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral.

Published in:

Current Protocols, 2022, v. 2, n. 11, p. 1, doi. 10.1002/cpz1.597

By:

Awamleh, Zain;
Goodman, Sarah;
Kallurkar, Prajkta;
Wu, Wendy;
Lu, Kevin;
Choufani, Sanaa;
Turinsky, Andrei L.;
Weksberg, Rosanna

Publication type:

Article

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Published in:

Genes, 2021, v. 12, n. 2, p. 172, doi. 10.3390/genes12020172

By:

Choufani, Sanaa;
Ko, Jung Min;
Lou, Youliang;
Shuman, Cheryl;
Fishman, Leona;
Weksberg, Rosanna;
Maher, Eamonn

Publication type:

Article

Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.

Published in:

Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01582-x

By:

Goodman, Sarah Jessica;
Luperchio, Teresa Romeo;
Ellegood, Jacob;
Chater-Diehl, Eric;
Lerch, Jason P.;
Bjornsson, Hans Tomas;
Weksberg, Rosanna

Publication type:

Article

Beckwith–Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 8, doi. 10.1038/ejhg.2009.106

By:

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

Publication type:

Article

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C.

Published in:

BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-1

By:

Grafodatskaya, Daria;
Chung, Barian H. Y.;
Butcher, Darci T.;
Turinsky, Andrei L.;
Goodman, Sarah J.;
Choufani, Sana;
Yi-An Chen;
Youliang Lou;
Chunhua Zhao;
Rajendram, Rageen;
Abidi, Fatima E.;
Skinner, Cindy;
Stavropoulos, James;
Bondy, Carolyn A.;
Hamilton, Jill;
Wodak, Shoshana;
Scherer, Stephen W.;
Schwartz, Charles E.;
Weksberg, Rosanna

Publication type:

Article

Schizophrenia and genetics: new insights.

Published in:

2002

By:

Bassett, Anne;
Chow, Eva;
Weksberg, Rosanna;
Brzustowicz, Linda;
Bassett, Anne S;
Chow, Eva W

Publication type:

journal article

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

Published in:

Genes, Chromosomes & Cancer, 1994, v. 11, n. 2, p. 97, doi. 10.1002/gcc.2870110206

By:

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

Publication type:

Article

Variant translocations of chromosome 22 in Ewing's sarcoma.

Published in:

Genes, Chromosomes & Cancer, 1993, v. 8, n. 3, p. 190, doi. 10.1002/gcc.2870080309

By:

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

Publication type:

Article

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

Published in:

Genes, Chromosomes & Cancer, 1992, v. 5, n. 4, p. 326, doi. 10.1002/gcc.2870050408

By:

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

Publication type:

Article

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

Published in:

Psycho-Oncology, 2004, v. 13, n. 9, p. 630, doi. 10.1002/pon.765

By:

BARRERA, MARU;
D'AGOSTINO, NORMA M.;
GIBSON, JULIE;
GILBERT, THOMAS;
WEKSBERG, ROSANNA;
MALKIN, DAVID

Publication type:

Article

Inhibition of DNA methylation during chronic obstructive bladder disease (COBD) improves function, pathology and expression.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96155-4

By:

Sidler, Martin;
Aitken, K. J.;
Jiang, Jia-Xin;
Yadav, Priyank;
Lloyd, Erin;
Ibrahim, Malak;
Choufani, Sanaa;
Weksberg, Rosanna;
Bägli, Darius

Publication type:

Article

Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study.

Published in:

Paediatrics & Child Health (1205-7088), 2023, v. 28, n. 2, p. 107, doi. 10.1093/pch/pxac109

By:

Gehring, Nicole D;
Birken, Catherine S;
Belanger, Stacey;
Bridger, Tracey;
Chanoine, Jean-Pierre;
Gibson, William T;
Hadjiyannakis, Stasia;
Haines, Jess;
Hamilton, Jill;
Haqq, Andrea M;
Henderson, Mélanie;
Ho, Josephine;
Irvine, Brittany;
Legault, Laurent;
Luca, Paola;
Maguire, Jonathon;
McPherson, Amy C;
Morrison, Katherine;
Wahi, Gita;
Weksberg, Rosanna

Publication type:

Article

Persistent myopathy despite release of partial obstruction: in vivo reversal of dysfunction and transcriptional responses using rapamycin.

Published in:

FASEB Journal, 2020, v. 34, n. 3, p. 3594, doi. 10.1096/fj.201900547RR

By:

Schröder, Annette;
Aitken, Karen J.;
Jiang, Jia‐Xin;
Sidler, Martin;
Tölg, Cornelia;
Siebenaller, Aliza;
Jeffrey, Nefateri;
Kirwan, Tyler;
Leslie, Bruno;
Wu, Changhao;
Weksberg, Rosanna;
Delgado‐Olguin, Paul;
Bägli, Darius J.

Publication type:

Article

Role of epigenetics and STAT5 in breast cancer resistance protein (BCRP/ABCG2) expression in the lactating mammary gland (1141.3).

Published in:

FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.1141.3

By:

Wu, Alex;
Dalvi, Pooja;
Yang, Mingdong;
Turinsky, Andrei;
Wang, Kelvin;
Butcher, Darci;
Egan, Sean;
Weksberg, Rosanna;
Brudno, Michael;
Harper, Patricia;
Ito, Shinya

Publication type:

Article

Specific cellular defects in patients with Fanconi anemia.

Published in:

Journal of Cellular Physiology, 1979, v. 101, n. 2, p. 311, doi. 10.1002/jcp.1041010211

By:

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

Publication type:

Article

Association of Alveolar Rhabdomyosarcoma with the Beckwith-Wiedemann Syndrome.

Published in:

Pediatric & Developmental Pathology, 2001, v. 4, n. 6, p. 550, doi. 10.1007/s10024001-0110-6

By:

Smith, Adam C.;
Squire, Jeremy A.;
Thorner, Paul;
Zielenska, Maria;
Shuman, Cheryl;
Grant, Ronald;
Chitayat, David;
Nishikawa, Joy L.;
Weksberg, Rosanna

Publication type:

Article

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 5, p. 624, doi. 10.1080/13816810.2021.1925929

By:

Zhu, Angela Y.;
Costain, Gregory;
Cytrynbaum, Cheryl;
Weksberg, Rosanna;
Cohn, Ronald D.;
Ali, Asim

Publication type:

Article

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1429, doi. 10.1093/hmg/ddac289

By:

Awamleh, Zain;
Choufani, Sanaa;
Cytrynbaum, Cheryl;
Alkuraya, Fowzan S;
Scherer, Stephen;
Fernandes, Sofia;
Rosas, Catarina;
Louro, Pedro;
Dias, Patricia;
Neves, Mariana Tomásio;
Sousa, Sérgio B;
Weksberg, Rosanna

Publication type:

Article

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098

By:

Riedhammer, Korbinian M;
Burgemeister, Anna L;
Cantagrel, Vincent;
Amiel, Jeanne;
Siquier-Pernet, Karine;
Boddaert, Nathalie;
Hertecant, Jozef;
Kannouche, Patricia L;
Pouvelle, Caroline;
Htun, Stephanie;
Slavotinek, Anne M;
Beetz, Christian;
Diego-Alvarez, Dan;
Kampe, Kapil;
Fleischer, Nicole;
Awamleh, Zain;
Weksberg, Rosanna;
Kopajtich, Robert;
Meitinger, Thomas;
Suleiman, Jehan

Publication type:

Article

Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 372, doi. 10.1093/hmg/ddy321

By:

Choufani, Sanaa;
Turinsky, Andrei L;
Melamed, Nir;
Greenblatt, Ellen;
Brudno, Michael;
Bérard, Anick;
Fraser, William D;
Weksberg, Rosanna;
Trasler, Jacquetta;
Monnier, Patricia;
group, 3D cohort study

Publication type:

Article

Investigating the Mechanisms of Methotrexate Neurotoxicity in Patients With Childhood Leukemia and Long-Term Survivors.

Published in:

Clinical Lymphoma, Myeloma & Leukemia, 2017, v. 17, p. S385, doi. 10.1016/j.clml.2017.07.235

By:

Forster, Victoria;
Carr-Wilkinson, Jane;
Tweddle, Deborah;
Nakjang, Sirintra;
Choufani, Sanaa;
Weksberg, Rosanna;
van Delft, Frederik

Publication type:

Article

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

Published in:

JAMA: Journal of the American Medical Association, 2015, v. 314, n. 9, p. 895, doi. 10.1001/jama.2015.10078

By:

Tammimies, Kristiina;
Marshall, Christian R.;
Walker, Susan;
Kaur, Gaganjot;
Thiruvahindrapuram, Bhooma;
Lionel, Anath C.;
Yuen, Ryan K. C.;
Uddin, Mohammed;
Roberts, Wendy;
Weksberg, Rosanna;
Woodbury-Smith, Marc;
Zwaigenbaum, Lonnie;
Anagnostou, Evdokia;
Zhuozhi Wang;
Wei, John;
Howe, Jennifer L.;
Gazzellone, Matthew J.;
Lau, Lynette;
Sung, Wilson W. L.;
Whitten, Kathy

Publication type:

Article

Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466

By:

de Kock, Leanne;
Cuillerier, Alexanne;
Gillespie, Meredith;
Couse, Madeline;
Hartley, Taila;
Mears, Wendy;
Bernier, Francois P.;
Chudley, Albert E.;
Frosk, Patrick;
Nikkel, Sarah M.;
Innes, A. Micheil;
Lauzon, Julie;
Thomas, Maryann;
Guerin, Andrea;
Armour, Christine M.;
Weksberg, Rosanna;
Scott, James N.;
Watkins, Debra;
Harvey, Shirley;
Cytrynbaum, Cheryl

Publication type:

Article

Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2640, doi. 10.1002/ajmg.a.63329

By:

White‐Brown, Alexandre;
Choufani, Sanaa;
Weksberg, Rosanna;
Dyment, David

Publication type:

Article

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1368, doi. 10.1002/ajmg.a.62650

By:

Marwaha, Ashish;
Costain, Gregory;
Cytrynbaum, Cheryl;
Mendoza‐Londono, Roberto;
Chad, Lauren;
Awamleh, Zain;
Chater‐Diehl, Eric;
Choufani, Sanaa;
Weksberg, Rosanna

Publication type:

Article

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2731, doi. 10.1002/ajmg.a.37819

By:

Cytrynbaum, Cheryl;
Chong, Karen;
Hannig, Vickie;
Choufani, Sanaa;
Shuman, Cheryl;
Steele, Leslie;
Morgan, Thomas;
Scherer, Stephen W.;
Stavropoulos, Dimitri J.;
Basran, Raveen K.;
Weksberg, Rosanna

Publication type:

Article

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452

By:

Fauth, Christine;
Steindl, Katharina;
Toutain, Annick;
Farrell, Sandra;
Witsch‐Baumgartner, Martina;
Karall, Daniela;
Joset, Pascal;
Böhm, Sebastian;
Baumer, Alessandra;
Maier, Oliver;
Zschocke, Johannes;
Weksberg, Rosanna;
Marshall, Christian R.;
Rauch, Anita

Publication type:

Article

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1560, doi. 10.1002/ajmg.a.37064

By:

Shugar, Andrea L.;
Shapiro, Jessica M.;
Cytrynbaum, Cheryl;
Hedges, Stephanie;
Weksberg, Rosanna;
Fishman, Leona

Publication type:

Article

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1565, doi. 10.1002/ajmg.a.37058

By:

Fairbrother, Laura C.;
Cytrynbaum, Cheryl;
Boutis, Paula;
Buiting, Karin;
Weksberg, Rosanna;
Williams, Charles

Publication type:

Article

Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2682, doi. 10.1002/ajmg.a.36682

By:

Agatep, Ron;
Shuman, Cheryl;
Steele, Leslie;
Parkinson, Nicole;
Weksberg, Rosanna;
Stockley, Tracy L.

Publication type:

Article

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700

By:

Aldinger, Kimberly A.;
Kogan, Jillene;
Kimonis, Virginia;
Fernandez, Bridget;
Horn, Denise;
Klopocki, Eva;
Chung, Brian;
Toutain, Annick;
Weksberg, Rosanna;
Millen, Kathleen J.;
Barkovich, A. James;
Dobyns, William B.

Publication type:

Article

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 13, doi. 10.1002/ajmg.a.35651

By:

Inbar‐Feigenberg, Michal;
Choufani, Sanaa;
Cytrynbaum, Cheryl;
Chen, Yi‐An;
Steele, Leslie;
Shuman, Cheryl;
Ray, Peter N.;
Weksberg, Rosanna

Publication type:

Article

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

Published in:

2012

By:

Chung, Brian;
Hinek, Aleksander;
Keating, Sarah;
Weksberg, Rosanna;
Shah, Vibhuti;
Blaser, Susan;
Hawkins, Cynthia;
Chitayat, David

Publication type:

Other

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532

By:

Baradaran-Heravi, Alireza;
Raams, Anja;
Lubieniecka, Joanna;
Cho, Kyoung Sang;
DeHaai, Kristi A.;
Basiratnia, Mitra;
Mari, Pierre-Olivier;
Xue, Yutong;
Rauth, Michael;
Olney, Ann Haskins;
Shago, Mary;
Choi, Kunho;
Weksberg, Rosanna A.;
Nowaczyk, Malgorzata J.M.;
Wang, Weidong;
Jaspers, Nicolaas G.J.;
Boerkoel, Cornelius F.

Publication type:

Article

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1662, doi. 10.1002/ajmg.a.35377

By:

Niederhoffer, Karen Y.;
Peñaherrera, Maria;
Pugash, Denise;
Rupps, Rosemarie;
Arbour, Laura;
Tessier, Francine;
Choufani, Sanaa;
Zhao, Chunhua;
Manokhina, Irina;
Shuman, Cheryl;
Robinson, Wendy P.;
Weksberg, Rosanna;
Boerkoel, Cornelius F.

Publication type:

Article

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1388, doi. 10.1002/ajmg.a.35358

By:

Gardiner, Kate;
Chitayat, David;
Choufani, Sanaa;
Shuman, Cheryl;
Blaser, Susan;
Terespolsky, Deborah;
Farrell, Sandra;
Reiss, Rosemary;
Wodak, Shoshana;
Pu, Shuye;
Ray, Peter N.;
Baskin, Berivan;
Weksberg, Rosanna

Publication type:

Article

Male sex bias in placental dysfunction.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 779, doi. 10.1002/ajmg.a.35250

By:

Murji, Ally;
Proctor, Leslie K.;
Paterson, Andrew D.;
Chitayat, David;
Weksberg, Rosanna;
Kingdom, John

Publication type:

Article

Genomic imbalances in the placenta are associated with poor fetal growth.

Published in:

Molecular Medicine, 2021, v. 27, n. 1, p. 1, doi. 10.1186/s10020-020-00253-4

By:

Del Gobbo, Giulia F.;
Yin, Yue;
Choufani, Sanaa;
Butcher, Emma A.;
Wei, John;
Rajcan-Separovic, Evica;
Bos, Hayley;
von Dadelszen, Peter;
Weksberg, Rosanna;
Robinson, Wendy P.;
Yuen, Ryan K. C.

Publication type:

Article

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

Published in:

Human Genetics, 2007, v. 120, n. 6, p. 837, doi. 10.1007/s00439-006-0242-x

By:

Weksberg, Rosanna;
Stachon, Andrea C.;
Squire, Jeremy A.;
Moldovan, Laura;
Bayani, Jane;
Meyn, Stephen;
Chow, Eva;
Bassett, Anne S.

Publication type:

Article

Characterizing neurocognitive late effects in childhood leukemia survivors using a combination of neuropsychological and cognitive neuroscience measures.

Published in:

Child Neuropsychology, 2018, v. 24, n. 8, p. 999, doi. 10.1080/09297049.2017.1386170

By:

Van Der Plas, Ellen;
Erdman, Lauren;
Nieman, Brian J.;
Weksberg, Rosanna;
Butcher, Darci T.;
O’connor, Deborah L.;
Aufreiter, Susanne;
Hitzler, Johann;
Guger, Sharon L.;
Schachar, Russell J.;
Ito, Shinya;
Spiegler, Brenda J.

Publication type:

Article

Music Skills and the Expressive Interpretation of Music in Children withWilliams-Beuren Syndrome: Pitch, Rhythm, Melodic Imagery, Phrasing, and MusicalAffect.

Published in:

Child Neuropsychology, 2001, v. 7, n. 1, p. 42, doi. 10.1076/chin.7.1.42.3147

By:

Hopyan, Talar;
Dennis, Maureen;
Weksberg, Rosanna;
Cytrynbaum, Cheryl

Publication type:

Article

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 532, doi. 10.1002/ajmg.c.31748

By:

Cyrus, Sharri S.;
Cohen, Ana S. A.;
Agbahovbe, Ruky;
Avela, Kristiina;
Yeung, Kit S.;
Chung, Brian H. Y.;
Luk, Ho‐Ming;
Tkachenko, Nataliya;
Choufani, Sanaa;
Weksberg, Rosanna;
Lopez‐Rangel, Elena;
Brown, Kathleen;
Saenz, Margarita S.;
Svihovec, Shayna;
McCandless, Shawn E.;
Bird, Lynne M.;
Garcia, Aixa Gonzalez;
Gambello, Michael J.;
McWalter, Kirsty;
Schnur, Rhonda E.

Publication type:

Article

Epigenetic signatures in overgrowth syndromes: Translational opportunities.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 491, doi. 10.1002/ajmg.c.31745

By:

Cytrynbaum, Cheryl;
Choufani, Sanaa;
Weksberg, Rosanna

Publication type:

Article

Molecular Findings in Beckwith–Wiedemann Syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 131, doi. 10.1002/ajmg.c.31363

By:

CHOUFANI, SANAA;
SHUMAN, CHERYL;
WEKSBERG, ROSANNA

Publication type:

Article

Molecular Mechanisms of Childhood Overgrowth.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 71, doi. 10.1002/ajmg.c.31362

By:

TATTON‐BROWN, KATRINA;
WEKSBERG, ROSANNA

Publication type:

Article