Mahim Jain

Mahim Jain

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Mahim Jain

Mahim Jain

Publications by authors named "Mahim Jain"

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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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Am J Hum Genet 2018 12 29;103(6):1030-1037. Epub 2018 Nov 29.

Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288200PMC
December 2018

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Neurol Genet 2018 Aug 20;4(4):e248. Epub 2018 Jul 20.

Department of Molecular and Human Genetics (K.M., L.C.B., M.J., R.A.L., M.X., J.A.R., R.C., C.M.E., Y.Y., B.H.L., P.M.M., S.U.D.), Department of Neurology (J.J., D.V., P.M.M), and Department of Ophthalmology (R.A.L.), Baylor College of Medicine; Department of Pathology (G.N.F.), Department of Neuro-Oncology (M.P.-P.), and Department of Diagnostic Imaging (M.K.G.-M.), The University of Texas MD Anderson Cancer Center; Michael E. DeBakey VA Medical Center (P.M.M.); Baylor Genetics (C.M.E., Y.Y.); and Department of Medicine (S.U.D.), Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055357PMC
August 2018

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Am J Med Genet A 2017 Oct 16;173(10):2789-2794. Epub 2017 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603416PMC
October 2017

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies.

Clin Chim Acta 2017 Mar 6;466:105-111. Epub 2017 Jan 6.

Dept. of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321821PMC
March 2017

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Am J Med Genet A 2016 10 20;170(10):2711-8. Epub 2016 Jun 20.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.37809DOI Listing
October 2016

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Mol Genet Genomic Med 2016 Jan 14;4(1):77-94. Epub 2015 Nov 14.

Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Texas Children's HospitalHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of MedicineHoustonTexas.

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http://dx.doi.org/10.1002/mgg3.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707028PMC
January 2016

Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in .

Mol Genet Metab Rep 2015 Sep;4:89-91

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.

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http://dx.doi.org/10.1016/j.ymgmr.2015.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563870PMC
September 2015

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):131-5. Epub 2014 Jul 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177960PMC
June 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Factors affecting the duration of phase I of dexamethasone - cyclophosphamide pulse therapy.

Indian J Dermatol Venereol Leprol 2014 Jul-Aug;80(4):296-9

Department of Dermatology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai Central, Mumbai, India.

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http://www.ijdvl.com/text.asp?2014/80/4/296/136831
Publisher Site
http://dx.doi.org/10.4103/0378-6323.136831DOI Listing
April 2015

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Mol Genet Metab Rep 2014 ;1:213-219

Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal; Medical genetics service, Room 6727, Sainte-Justine Hospital, 3175, Côte-Sainte-Catherine, Montréal QC Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.ymgmr.2014.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088274PMC
January 2014

Nasal dermoid sinus cyst in a young female.

Indian Dermatol Online J 2013 Oct;4(4):380-1

Department of Dermatology, Topiwala National Medical College, B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India.

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http://www.idoj.in/text.asp?2013/4/4/380/120669
Publisher Site
http://dx.doi.org/10.4103/2229-5178.120669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853920PMC
October 2013

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Authors:
Nick Craddock Matthew E Hurles Niall Cardin Richard D Pearson Vincent Plagnol Samuel Robson Damjan Vukcevic Chris Barnes Donald F Conrad Eleni Giannoulatou Chris Holmes Jonathan L Marchini Kathy Stirrups Martin D Tobin Louise V Wain Chris Yau Jan Aerts Tariq Ahmad T Daniel Andrews Hazel Arbury Anthony Attwood Adam Auton Stephen G Ball Anthony J Balmforth Jeffrey C Barrett Inês Barroso Anne Barton Amanda J Bennett Sanjeev Bhaskar Katarzyna Blaszczyk John Bowes Oliver J Brand Peter S Braund Francesca Bredin Gerome Breen Morris J Brown Ian N Bruce Jaswinder Bull Oliver S Burren John Burton Jake Byrnes Sian Caesar Chris M Clee Alison J Coffey John M C Connell Jason D Cooper Anna F Dominiczak Kate Downes Hazel E Drummond Darshna Dudakia Andrew Dunham Bernadette Ebbs Diana Eccles Sarah Edkins Cathryn Edwards Anna Elliot Paul Emery David M Evans Gareth Evans Steve Eyre Anne Farmer I Nicol Ferrier Lars Feuk Tomas Fitzgerald Edward Flynn Alistair Forbes Liz Forty Jayne A Franklyn Rachel M Freathy Polly Gibbs Paul Gilbert Omer Gokumen Katherine Gordon-Smith Emma Gray Elaine Green Chris J Groves Detelina Grozeva Rhian Gwilliam Anita Hall Naomi Hammond Matt Hardy Pile Harrison Neelam Hassanali Husam Hebaishi Sarah Hines Anne Hinks Graham A Hitman Lynne Hocking Eleanor Howard Philip Howard Joanna M M Howson Debbie Hughes Sarah Hunt John D Isaacs Mahim Jain Derek P Jewell Toby Johnson Jennifer D Jolley Ian R Jones Lisa A Jones George Kirov Cordelia F Langford Hana Lango-Allen G Mark Lathrop James Lee Kate L Lee Charlie Lees Kevin Lewis Cecilia M Lindgren Meeta Maisuria-Armer Julian Maller John Mansfield Paul Martin Dunecan C O Massey Wendy L McArdle Peter McGuffin Kirsten E McLay Alex Mentzer Michael L Mimmack Ann E Morgan Andrew P Morris Craig Mowat Simon Myers William Newman Elaine R Nimmo Michael C O'Donovan Abiodun Onipinla Ifejinelo Onyiah Nigel R Ovington Michael J Owen Kimmo Palin Kirstie Parnell David Pernet John R B Perry Anne Phillips Dalila Pinto Natalie J Prescott Inga Prokopenko Michael A Quail Suzanne Rafelt Nigel W Rayner Richard Redon David M Reid Renwick Susan M Ring Neil Robertson Ellie Russell David St Clair Jennifer G Sambrook Jeremy D Sanderson Helen Schuilenburg Carol E Scott Richard Scott Sheila Seal Sue Shaw-Hawkins Beverley M Shields Matthew J Simmonds Debbie J Smyth Elilan Somaskantharajah Katarina Spanova Sophia Steer Jonathan Stephens Helen E Stevens Millicent A Stone Zhan Su Deborah P M Symmons John R Thompson Wendy Thomson Mary E Travers Clare Turnbull Armand Valsesia Mark Walker Neil M Walker Chris Wallace Margaret Warren-Perry Nicholas A Watkins John Webster Michael N Weedon Anthony G Wilson Matthew Woodburn B Paul Wordsworth Allan H Young Eleftheria Zeggini Nigel P Carter Timothy M Frayling Charles Lee Gil McVean Patricia B Munroe Aarno Palotie Stephen J Sawcer Stephen W Scherer David P Strachan Chris Tyler-Smith Matthew A Brown Paul R Burton Mark J Caulfield Alastair Compston Martin Farrall Stephen C L Gough Alistair S Hall Andrew T Hattersley Adrian V S Hill Christopher G Mathew Marcus Pembrey Jack Satsangi Michael R Stratton Jane Worthington Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem Ouwehand Miles Parkes Nazneen Rahman John A Todd Nilesh J Samani Peter Donnelly

Nature 2010 Apr;464(7289):713-20

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http://dx.doi.org/10.1038/nature08979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892339PMC
April 2010

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

Am J Med Genet A 2009 May;149A(5):919-25

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.32813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737713PMC
May 2009

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Am J Med Genet A 2008 Sep;146A(17):2308-11

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.32445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774842PMC
September 2008

Severe lower limb defects in exstrophy of the cloaca.

Am J Med Genet A 2004 Jul;128A(3):320-4

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA.

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http://dx.doi.org/10.1002/ajmg.a.30103DOI Listing
July 2004

Chloride transport across vesicle and cell membranes by steroid-based receptors.

Angew Chem Int Ed Engl 2003 Oct;42(40):4931-3

Department of Chemistry and Biochemistry and Walther Cancer Research Center, University of Notre Dame, Notre Dame, IN 46556, USA.

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http://dx.doi.org/10.1002/anie.200351957DOI Listing
October 2003

Cationic triple-chain amphiphiles facilitate vesicle fusion compared to double-chain or single-chain analogues.

Biochim Biophys Acta 2002 Aug;1564(2):459-65

Department of Chemistry and Biochemistry, and the Walther Cancer Research Center, University of Notre Dame, Notre Dame, IN 46556-5670, USA.

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http://dx.doi.org/10.1016/s0005-2736(02)00496-0DOI Listing
August 2002