Sunita Venkateswaran

Sunita Venkateswaran

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Sunita Venkateswaran

Sunita Venkateswaran

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Clin Genet 2019 May 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1111/cge.13523DOI Listing
May 2019

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

J Neuropathol Exp Neurol 2019 Jan;78(1):3-9

Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario Canada.

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http://dx.doi.org/10.1093/jnen/nly105DOI Listing
January 2019

Lysosomal dysfunction in hypomyelinating leukodystrophy.

Neurol Genet 2018 Dec 13;4(6):e288. Epub 2018 Nov 13.

Children's Hospital of Eastern Ontario Research Institute (Y.I., T.H., S.B., K.M.B., D.A.D., K.D.K.), Ottawa, Ontario, Canada; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Institute for Molecular Bioscience (C.S.), University of Queensland, St. Lucia, Queensland, Australia; and Department of Child Neurology (N.I.W.), VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317987PMC
December 2018

The spectrum of adult-onset heritable white-matter disorders.

Handb Clin Neurol 2018 ;148:669-692

Department of Neurology, Children's Hospital of Philadelphia, Philadephia, PA, United States; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, United States. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64076-5.00043-0DOI Listing
August 2018

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.

Can J Neurol Sci 2017 11 30;44(6):749-751. Epub 2017 Aug 30.

3Division of Paediatric Neurology,Department of PaediatricsUniversity of Ottawa,Ottawa,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2017.226DOI Listing
November 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Am J Med Genet A 2017 Jun 25;173(6):1593-1600. Epub 2017 Apr 25.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38241DOI Listing
June 2017

Differential diagnosis and evaluation in pediatric inflammatory demyelinating disorders.

Neurology 2016 Aug;87(9 Suppl 2):S28-37

From the Department of Pediatric Neurology (K.R.), Children's Hospital Datteln, University Witten/Herdecke, Germany; Department of Neurology (B.B.-K.), Medical University of Vienna, Austria; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Canada; Pediatric Neurology (C.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; and National Reference Center for Inflammatory Diseases of the Brain (M.T.), Hôpitaux Universitaires Paris-Sud, University Paris-Sud, France.

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http://dx.doi.org/10.1212/WNL.0000000000002878DOI Listing
August 2016

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

Hum Mol Genet 2015 Nov 24;24(22):6293-300. Epub 2015 Aug 24.

Children's Hospital of Eastern Ontario Research Institute, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1

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http://dx.doi.org/10.1093/hmg/ddv337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614701PMC
November 2015

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Pediatrics 2015 Sep 3;136(3):e714-7. Epub 2015 Aug 3.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada; and

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2015-0750DOI Listing
September 2015

Acute asymmetrical spinal infarct secondary to fibrocartilaginous embolism.

Childs Nerv Syst 2015 Mar 8;31(3):487-91. Epub 2014 Oct 8.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, Ontario, K1H 8L1, Canada.

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http://dx.doi.org/10.1007/s00381-014-2562-9DOI Listing
March 2015

Nutraceuticals in the prophylaxis of pediatric migraine: Evidence-based review and recommendations.

Cephalalgia 2014 Jul 17;34(8):568-83. Epub 2014 Jan 17.

Children's Hospital of Eastern Ontario, ON, Canada University of Ottawa, ON, Canada.

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http://journals.sagepub.com/doi/10.1177/0333102413519512
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http://dx.doi.org/10.1177/0333102413519512DOI Listing
July 2014

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

Dev Med Child Neurol 2014 Jan 15;56(1):91-4. Epub 2013 Nov 15.

Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1111/dmcn.12334DOI Listing
January 2014

Pediatric multiple sclerosis.

Neurologist 2010 Mar;16(2):92-105

Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8.

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http://dx.doi.org/10.1097/NRL.0b013e3181c923d5DOI Listing
March 2010

The case against routine electroencephalography in specific language impairment.

Pediatrics 2008 Oct 15;122(4):e911-6. Epub 2008 Sep 15.

Department of aNeurology/Neurosurgery, Montreal Children's Hospital-McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1542/peds.2008-0257DOI Listing
October 2008

Diagnostic yield of brain biopsies in children presenting to neurology.

J Child Neurol 2008 Mar 11;23(3):253-8. Epub 2008 Jan 11.

Department of Pediatrics, Children's Hospital of Western Ontario, University of Western Ontario.

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http://dx.doi.org/10.1177/0883073807309254DOI Listing
March 2008

Comorbidities and clinical determinants of outcome in children with spastic quadriplegic cerebral palsy.

Dev Med Child Neurol 2008 Mar 1;50(3):216-22. Epub 2008 Feb 1.

Division of Pediatric Neurology, Montreal Children's Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/j.1469-8749.2008.02033.xDOI Listing
March 2008

Etiologic profile of spastic quadriplegia in children.

Pediatr Neurol 2007 Sep;37(3):203-8

Department of Neurology and Neurosurgery, McGill University, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.05.006DOI Listing
September 2007