Publications by authors named "Shenela Lakhani"

8Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Sep 26. Epub 2020 Sep 26.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
September 2020

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 08 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://link.springer.com/10.1007/s10048-019-00578-1
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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Eur J Med Genet 2017 May 27;60(5):245-249. Epub 2017 Feb 27.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569911PMC
May 2017

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Hum Genet 2015 Sep 16;134(9):967-80. Epub 2015 Jun 16.

Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, P.O.BOX. 3050, Doha, Qatar.

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http://dx.doi.org/10.1007/s00439-015-1575-0DOI Listing
September 2015

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Am J Med Genet A 2014 Sep 26;164A(9):2147-52. Epub 2014 Jun 26.

Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.36632
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http://dx.doi.org/10.1002/ajmg.a.36632DOI Listing
September 2014

It's a small world: fusion of cultures in genetic counseling.

J Genet Couns 2012 Apr 26;21(2):207-8. Epub 2012 Jan 26.

Yale Cancer Center, Yale University, 55 Church Street, Suite 402, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1007/s10897-011-9444-zDOI Listing
April 2012