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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
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
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Published in:
Molecular Genetics & Genomics, 2007, v. 277, n. 1, p. 71, doi. 10.1007/s00438-006-0173-1
By:
- Erwin Petek;
- Thomas Schwarzbraun;
- Abdul Noor;
- Megha Patel;
- Kazuhiko Nakabayashi;
- Sanaa Choufani;
- Christian Windpassinger;
- Mara Stamenkovic;
- Mary Robertson;
- Harald Aschauer;
- Hugh Gurling;
- Peter Kroisel;
- Klaus Wagner;
- Stephen Scherer;
- John Vincent
Publication type:
Article
DNA methylation signatures for chromatinopathies: current challenges and future applications.
Published in:
Human Genetics, 2024, v. 143, n. 4, p. 551, doi. 10.1007/s00439-023-02544-2
By:
- Awamleh, Zain;
- Goodman, Sarah;
- Choufani, Sanaa;
- Weksberg, Rosanna
Publication type:
Article
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2402
By:
- Liang, Manqi;
- Suresh, Beena;
- Bareke, Eric;
- Choufani, Sanaa;
- Jagadeesh, Sujatha;
- Weksberg, Rosanna;
- Majewski, Jacek;
- Slim, Rima
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
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
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
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
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Published in:
Human Genetics, 2014, v. 133, n. 3, p. 321, doi. 10.1007/s00439-013-1379-z
By:
- Baskin, Berivan;
- Choufani, Sanaa;
- Chen, Yi-an;
- Shuman, Cheryl;
- Parkinson, Nicole;
- Lemyre, Emmanuelle;
- Micheil Innes, A.;
- Stavropoulos, Dimitri;
- Ray, Peter;
- Weksberg, Rosanna
Publication type:
Article
TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Published in:
2016
By:
- Jian Chen;
- Zhi-Xing Yao;
- Jiun-Sheng Chen;
- Young Jin Ci;
- Muñoz, Nina M.;
- Kundra, Suchin;
- Herlong, H. Franklin;
- Yun Seong jeong;
- Coltsov, Alexei;
- Ohshiro, Kazufumi;
- Mistry, Nipun A.;
- jianping Zhang;
- Xiaoping Su;
- Choufani, Sanaa;
- Mitra, Abhisek;
- Shulin Li;
- Mishra, Bibhuti;
- White, Jon;
- Rashid, Asif;
- Wang, Alan Yaoqi
Publication type:
journal 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
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
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
An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.612817
By:
- Jangjoo, Maryam;
- Goodman, Sarah J.;
- Choufani, Sanaa;
- Trost, Brett;
- Scherer, Stephen W.;
- Kelley, Elizabeth;
- Ayub, Muhammad;
- Nicolson, Rob;
- Georgiades, Stelios;
- Crosbie, Jennifer;
- Schachar, Russell;
- Anagnostou, Evdokia;
- Grunebaum, Eyal;
- Weksberg, Rosanna
Publication type:
Article
Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Published in:
2019
By:
- Pienkowska, Malgorzata;
- Choufani, Sanaa;
- Turinsky, Andrei L.;
- Guha, Tanya;
- Merino, Diana M.;
- Novokmet, Ana;
- Brudno, Michael;
- Weksberg, Rosanna;
- Shlien, Adam;
- Hawkins, Cynthia;
- Bouffet, Eric;
- Tabori, Uri;
- Gilbertson, Richard J.;
- Finlay, Jonathan L.;
- Jabado, Nada;
- Thomas, Christian;
- Sill, Martin;
- Capper, David;
- Hasselblatt, Martin;
- Malkin, David
Publication type:
Correction Notice
DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Published in:
Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0708-z
By:
- Pienkowska, Malgorzata;
- Choufani, Sanaa;
- Turinsky, Andrei L.;
- Guha, Tanya;
- Merino, Diana M.;
- Novokmet, Ana;
- Brudno, Michael;
- Weksberg, Rosanna;
- Shlien, Adam;
- Hawkins, Cynthia;
- Bouffet, Eric;
- Tabori, Uri;
- Gilbertson, Richard;
- Finlay, Jonathan L.;
- Jabado, Nada;
- Thomas, Christian;
- Sill, Martin;
- Capper, David;
- Hasselblatt, Martin;
- Malkin, David
Publication type:
Article
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169553
By:
- Yeung, Kit San;
- Chung, Brian Hon-Yin;
- Choufani, Sanaa;
- Mok, Mo Yin;
- Wong, Wai Lap;
- Mak, Christopher Chun Yu;
- Yang, Wanling;
- Lee, Pamela Pui Wah;
- Wong, Wilfred Hing Sang;
- Chen, Yi-an;
- Grafodatskaya, Daria;
- Wong, Raymond Woon Sing;
- Lau, Chak Sing;
- Chan, Daniel Tak Mao;
- Weksberg, Rosanna;
- Lau, Yu-Lung
Publication type:
Article
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0555-y
By:
- Chater-Diehl, Eric;
- Ejaz, Resham;
- Cytrynbaum, Cheryl;
- Siu, Michelle T.;
- Turinsky, Andrei;
- Choufani, Sanaa;
- Goodman, Sarah J.;
- Abdul-Rahman, Omar;
- Bedford, Melanie;
- Dorrani, Naghmeh;
- Engleman, Kendra;
- Flores-Daboub, Josue;
- Genevieve, David;
- Mendoza-Londono, Roberto;
- Meschino, Wendy;
- Perrin, Laurence;
- Safina, Nicole;
- Townshend, Sharron;
- Scherer, Stephen W.;
- Anagnostou, Evdokia
Publication type:
Article
Maternal vitamin D supplementation during pregnancy and lactation to promote infant growth in Dhaka, Bangladesh (MDIG trial): study protocol for a randomized controlled trial.
Published in:
2015
By:
- Roth, Daniel E.;
- Gernand, Alison D.;
- Morris, Shaun K.;
- Pezzack, Brendon;
- Islam, M. Munirul;
- Dimitris, Michelle C.;
- Shanta, Shaila S.;
- Zlotkin, Stanley H.;
- Willan, Andrew R.;
- Ahmed, Tahmeed;
- Shah, Prakesh S.;
- Murphy, Kellie E.;
- Weksberg, Rosanna;
- Choufani, Sanaa;
- Shah, Rashed;
- Al Mahmud, Abdullah
Publication type:
journal article
Nonpeptidic antagonists of ET<sub>A</sub> and ET<sub>B</sub> receptors reverse the ET-1-induced sustained increase of cytosolic and nuclear calcium in human aortic vascular smooth muscle cells.
Published in:
Canadian Journal of Physiology & Pharmacology, 2008, v. 86, n. 8, p. 546, doi. 10.1139/Y08-048
By:
- Bkaily, Ghassan;
- Choufani, Sanaa;
- Avedanian, Levon;
- Ahmarani, Lena;
- Nader, Moni;
- Jacques, Danielle;
- D'Orléans-Juste, Pedro;
- Al Khoury, Johny
Publication type:
Article
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Published in:
2021
By:
- Brzezinski, Jack;
- Choufani, Sanaa;
- Romao, Rodrigo;
- Shuman, Cheryl;
- Chen, Haiying;
- Cunanan, Joanna;
- Bagli, Darius;
- Grant, Ronald;
- Lorenzo, Armando;
- Weksberg, Rosanna
Publication type:
journal 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
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
Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction.
Published in:
Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0238-x
By:
- Roifman, Maian;
- Choufani, Sanaa;
- Turinsky, Andrei L.;
- Drewlo, Sascha;
- Keating, Sarah;
- Brudno, Michael;
- Kingdom, John;
- Weksberg, Rosanna
Publication type:
Article
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.
Published in:
Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1753-9
By:
- Martin-Herranz, Daniel E.;
- Aref-Eshghi, Erfan;
- Bonder, Marc Jan;
- Stubbs, Thomas M.;
- Choufani, Sanaa;
- Weksberg, Rosanna;
- Stegle, Oliver;
- Sadikovic, Bekim;
- Reik, Wolf;
- Thornton, Janet M.
Publication type:
Article
Activation of sarcolemma and nuclear membranes ET-1 receptors regulates transcellular calcium levels in heart and vascular smooth muscle cells.
Published in:
Canadian Journal of Physiology & Pharmacology, 2003, v. 81, n. 6, p. 654, doi. 10.1139/y03-020
By:
- Bkaily, Ghassan;
- Choufani, Sanaa;
- Sader, Sawsan;
- Jacques, Danielle;
- d'Orleans-Juste, Pedro;
- Nader, Moni;
- Kurban, Ghada;
- Karnal, Maud
Publication type:
Article

Found: 33