Sarju Mehta

Sarju Mehta

UNVERIFIED PROFILE

Are you Sarju Mehta?   Register this Author

Register author
Sarju Mehta

Sarju Mehta

Publications by authors named "Sarju Mehta"

Are you Sarju Mehta?   Register this Author

45Publications

2147Reads

41Profile Views

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Eur J Med Genet 2019 Jan 23;62(1):27-34. Epub 2018 Apr 23.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.04.014DOI Listing
January 2019

Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier.

Neurol Genet 2017 Oct 25;3(5):e191. Epub 2017 Sep 25.

Department of Stroke Medicine (E.W., P.M., H.S.M.) and Department of Genetics (S.M.), Addenbrooke's Hospital, Cambridge, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619912PMC
October 2017

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.

Eur J Hum Genet 2016 01 26;25(1):157-160. Epub 2016 Oct 26.

Department of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149071PMC
January 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Biochim Biophys Acta 2014 Jan 24;1842(1):56-64. Epub 2013 Oct 24.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2013.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898479PMC
January 2014

The spectrum of 4q- syndrome illustrated by a case series.

Gene 2012 Sep 3;506(2):387-91. Epub 2012 Jul 3.

Institute of Human Genetics and Newcastle University, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2012.06.087DOI Listing
September 2012

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.

Am J Med Genet A 2010 Jul;152A(7):1764-9

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33426DOI Listing
July 2010

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Osteocraniostenosis: a further case report documenting the antenatal findings.

Clin Dysmorphol 2007 Apr;16(2):117-20

Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mcd.0000220619.78273.a5DOI Listing
April 2007

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).

Genet Med 2007 Jan;9(1):9-13

Children's Hospital Clinical Genetics and Metabolism, Boston, Massachusetts, and Department of Neurology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/gim.0b013e31802d830dDOI Listing
January 2007

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Am J Med Genet A 2006 Feb;140(4):322-30

Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31008
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31008DOI Listing
February 2006

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

Hum Genet 2005 Dec 22;118(3-4):508-14. Epub 2005 Oct 22.

Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-005-0075-z
Publisher Site
http://dx.doi.org/10.1007/s00439-005-0075-zDOI Listing
December 2005

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

Ann Neurol 2005 Mar;57(3):457-61

Department of Neurology, University Hospital Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20407DOI Listing
March 2005

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Genet Med 2004 Nov-Dec;6(6):495-502

Genetic Studies Section, Skin Biology Laboratory, NIAMS, NIH, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000145045.17711.1cDOI Listing
February 2005

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Nat Genet 2004 Apr 21;36(4):377-81. Epub 2004 Mar 21.

Division of Genetics, Children's Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1332DOI Listing
April 2004