Riyana Babul-Hirji

Riyana Babul-Hirji

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Riyana Babul-Hirji

Riyana Babul-Hirji

Publications by authors named "Riyana Babul-Hirji"

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22Publications

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PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.

Horm Res Paediatr 2017 12;88(3-4):298-304. Epub 2017 Jun 12.

Department of Pediatrics, Division of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1159/000477242DOI Listing
June 2018

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A 2017 Oct 25;173(10):2725-2730. Epub 2017 Aug 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38352DOI Listing
October 2017

Experience with genetic counseling: the adolescent perspective.

J Genet Couns 2016 06 17;25(3):583-95. Epub 2015 Nov 17.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-015-9912-yDOI Listing
June 2016

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.

Clin Case Rep 2016 04 28;4(4):351-5. Epub 2016 Feb 28.

Department of Pediatrics Division of Clinical & Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada; Department of Molecular Genetics University of Toronto Toronto ON Canada; The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto ON Canada.

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http://dx.doi.org/10.1002/ccr3.425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831382PMC
April 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

Am J Med Genet A 2012 Oct 10;158A(10):2551-6. Epub 2012 Sep 10.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35621DOI Listing
October 2012

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Am J Med Genet A 2012 Aug 18;158A(8):1977-81. Epub 2012 Jun 18.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35436DOI Listing
August 2012

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

Am J Med Genet A 2012 Jul 7;158A(7):1759-64. Epub 2012 Jun 7.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35390DOI Listing
July 2012

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Am J Med Genet A 2012 Jan 21;158A(1):182-7. Epub 2011 Nov 21.

Maritime Medical Genetics Services, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319791PMC
January 2012

A sociolinguistic exploration of genetic counseling discourse involving a child with a new genetic diagnosis.

Patient Educ Couns 2010 Jan 21;78(1):40-5. Epub 2009 Aug 21.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada, M5G 1X8.

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http://dx.doi.org/10.1016/j.pec.2009.06.007DOI Listing
January 2010

Assessing the informational needs of adolescents with a genetic condition: what do they want to know?

J Genet Couns 2007 Apr;16(2):201-10

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-006-9060-5DOI Listing
April 2007

Attitudes regarding predictive testing for retinitis pigmentosa.

Ophthalmic Genet 2007 Mar;28(1):9-15

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1080/13816810701199423DOI Listing
March 2007

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Can J Neurol Sci 2006 Aug;33(3):311-6

Molecular Genetics Department D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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http://dx.doi.org/10.1017/s0317167100005199DOI Listing
August 2006

Cavum veli interpositi: prenatal diagnosis and postnatal outcome.

Prenat Diagn 2005 Jul;25(7):539-42

Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pd.1114DOI Listing
July 2005