Publications by authors named "Rani Sachdev"

20Publications

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Cell Rep 2017 Oct;21(4):926-933

Pharmacology and Toxicology, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA; Program for Neuroscience, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.09.088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687820PMC
October 2017

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Mol Genet Metab 2015 Nov 14;116(3):178-86. Epub 2015 Aug 14.

Sydney Children's Hospital, High Street Randwick NSW 2031, Australia; University of New South Wales, High Street, Sydney, NSW 2052, Australia; Seals Molecular Genetics, POW Hospital Campus, Barker Street, Randwick, Sydney, NSW 2031, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153004
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http://dx.doi.org/10.1016/j.ymgme.2015.08.007DOI Listing
November 2015

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

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http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

Ataxia telangiectasia in a three-year-old-girl.

Pediatr Neurol 2014 Mar 21;50(3):279-80. Epub 2013 Nov 21.

Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.011DOI Listing
March 2014

A genetic diagnostic approach to infantile epileptic encephalopathies.

J Clin Neurosci 2012 Jul 20;19(7):934-41. Epub 2012 May 20.

Department of Medical Genetics, Sydney Children's Hospital, High St., Randwick, New South Wales 2031, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868120007
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http://dx.doi.org/10.1016/j.jocn.2012.01.017DOI Listing
July 2012

Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children.

J Paediatr Child Health 2012 Apr 13;48(4):356-60. Epub 2011 Dec 13.

Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02236.xDOI Listing
April 2012

Characterizing the oculoauriculofrontonasal syndrome.

Clin Dysmorphol 2008 Apr;17(2):79-85

Genetic Health Queensland, Royal Children's Hospital, University of Queensland, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e3282f449c8DOI Listing
April 2008