Works by Weksberg, Rosanna A.

Results: 98

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

DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 10, p. 3610, doi. 10.1007/s10803-020-04792-x

By:

Siu, Michelle T.;
Goodman, Sarah J.;
Yellan, Isaac;
Butcher, Darci T.;
Jangjoo, Maryam;
Grafodatskaya, Daria;
Rajendram, Rageen;
Lou, Youliang;
Zhang, Rujun;
Zhao, Chunhua;
Nicolson, Rob;
Georgiades, Stelios;
Szatmari, Peter;
Scherer, Stephen W.;
Roberts, Wendy;
Anagnostou, Evdokia;
Weksberg, Rosanna

Publication type:

Article

Parents' Perspectives on Participating in Genetic Research in Autism.

Published in:

Journal of Autism & Developmental Disorders, 2013, v. 43, n. 3, p. 556, doi. 10.1007/s10803-012-1592-y

By:

Trottier, Magan;
Roberts, Wendy;
Drmic, Irene;
Scherer, Stephen;
Weksberg, Rosanna;
Cytrynbaum, Cheryl;
Chitayat, David;
Shuman, Cheryl;
Miller, Fiona

Publication type:

Article

Developmental Differences in Psychological Adjustment and Health-Related Quality of Life in Pediatric Cancer Patients.

Published in:

Children's Health Care, 2003, v. 32, n. 3, p. 215, doi. 10.1207/S15326888CHC3203_3

By:

Barrera, Maru;
Wayland, Leigh-Ann;
D'Agostino, Norma M.;
Gibson, Julie;
Weksberg, Rosanna;
Malkin, David

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

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 5, p. 707, doi. 10.1111/epi.12954

By:

Mercimek‐Mahmutoglu, Saadet;
Patel, Jaina;
Cordeiro, Dawn;
Hewson, Stacy;
Callen, David;
Donner, Elizabeth J.;
Hahn, Cecil D.;
Kannu, Peter;
Kobayashi, Jeff;
Minassian, Berge A.;
Moharir, Mahendranath;
Siriwardena, Komudi;
Weiss, Shelly K.;
Weksberg, Rosanna;
Snead, O. Carter

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

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

22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 825, doi. 10.1007/s10897-012-9517-7

By:

Martin, Nicole;
Mikhaelian, Marina;
Cytrynbaum, Cheryl;
Shuman, Cheryl;
Chitayat, David;
Weksberg, Rosanna;
Bassett, Anne

Publication type:

Article

Compromised JMJD6 Histone Demethylase Activity Affects VHL Gene Repression in Preeclampsia.

Published in:

2018

By:

Alahari, Sruthi;
Post, Martin;
Rolfo, Alessandro;
Weksberg, Rosanna;
Caniggia, Isabella

Publication type:

journal article

The health risks of ART.

Published in:

EMBO Reports, 2013, v. 14, n. 2, p. 129, doi. 10.1038/embor.2012.222

By:

Grafodatskaya, Daria;
Cytrynbaum, Cheryl;
Weksberg, Rosanna

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

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

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

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

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

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

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

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

Published in:

Pediatric Blood & Cancer, 2024, v. 71, n. 11, p. 1, doi. 10.1002/pbc.31282

By:

Zabeida, Alexandra;
Brzezinski, Jack J.;
Wasserman, Jonathan D.;
Cytrynbaum, Cheryl;
Weksberg, Rosanna;
Zwicker, Kelley;
Zbuk, Kevin;
Gasparetto, Alessandro;
Willis, Laura;
Fantauzzi, Michelle;
Carcao, Manuel

Publication type:

Article

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

Published in:

Pediatric Radiology, 2008, v. 38, n. 7, p. 766, doi. 10.1007/s00247-008-0903-0

By:

Konen, Osnat;
Armstrong, Derek;
Clarke, Howard;
Padfield, Nancy;
Weksberg, Rosanna;
Blaser, Susan

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

An eHealth decision‐support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.

Published in:

International Journal of Cancer, 2020, v. 146, n. 4, p. 1010, doi. 10.1002/ijc.32561

By:

Cullinan, Noelle;
Villani, Anita;
Mourad, Stephanie;
Somers, Gino R.;
Reichman, Lara;
Engelen, Kalene;
Stephens, Derek;
Weksberg, Rosanna;
Foulkes, William D.;
Malkin, David;
Grant, Ronald;
Goudie, Catherine

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

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

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

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

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

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02039-7

By:

Lin, Isabella;
Awamleh, Zain;
Sinvhal, Mili;
Wan, Andrew;
Bondhus, Leroy;
Wei, Angela;
Russell, Bianca E.;
Weksberg, Rosanna;
Arboleda, Valerie A.

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

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

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

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

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

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

Infant outcome following mid-trimester amniocentesis: development and physical status at age six months.

Published in:

BJOG: An International Journal of Obstetrics & Gynaecology, 1985, v. 92, n. 10, p. 1015, doi. 10.1111/j.1471-0528.1985.tb02996.x

By:

FINEGAN, JO-ANNE K.;
QUARRINGTON, BRUCE J.;
HUGHES, HELEN E.;
RUDD, NOREEN L.;
STEVENS, LINDA J.;
WEKSBERG, ROSANNA;
DORAN, TERENCE A.

Publication type:

Article

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome.

Published in:

Nucleic Acids Research, 2021, v. 49, n. 11, p. 6315, doi. 10.1093/nar/gkab475

By:

Naveh, Natali S Sobel;
Deegan, Daniel F;
Huhn, Jacklyn;
Traxler, Emily;
Lan, Yemin;
Weksberg, Rosanna;
Ganguly, Arupa;
Engel, Nora;
Kalish, Jennifer M

Publication type:

Article

Clinically relevant copy number variations detected in cerebral palsy.

Published in:

Nature Communications, 2015, v. 6, n. 8, p. 7949, doi. 10.1038/ncomms8949

By:

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, Rosanna;
Stavropoulos, Dimitri J.;
Fehlings, Darcy;
Shevell, Michael I.;
Scherer, Stephen W.

Publication type:

Article

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1135, doi. 10.1038/ejhg.2014.260

By:

Hayeems, Robin Z;
Hoang, Ny;
Chenier, Sebastien;
Stavropoulos, Dimitri J;
Pu, Shuye;
Weksberg, Rosanna;
Shuman, Cheryl

Publication type:

Article

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132

By:

Eggermann, Thomas;
Algar, Elizabeth;
Lapunzina, Pablo;
Mackay, Deborah;
Maher, Eamonn R;
Mannens, Marcel;
Netchine, Irène;
Prawitt, Dirk;
Riccio, Andrea;
Temple, I Karen;
Weksberg, Rosanna

Publication type:

Article