Publications by authors named "Himanshu Goel"

47Publications

Another case of holoprosencephaly associated with RAD21 loss-of-function variant.

Brain 2020 Aug;143(8):e64

Hunter Genetics, Waratah, NSW 2298, Australia.

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http://dx.doi.org/10.1093/brain/awaa173DOI Listing
August 2020

Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences.

Ophthalmic Genet 2020 Oct 9;41(5):470-473. Epub 2020 Jul 9.

University of New England , Armidale, NSW, Australia.

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http://dx.doi.org/10.1080/13816810.2020.1790617DOI Listing
October 2020

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

Kidney Int 2020 08 23;98(2):476-487. Epub 2020 Mar 23.

Department of Nephrology, Hemodialysis and Renal Transplantation, University Hospital, Brest, France; Univ Brest, F-29200 Brest, France; National Institute for Research in Health Science (INSERM) UMR 1078, "Genetics, Genomics and Biotechnologies," Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2020.02.022DOI Listing
August 2020

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

Eur J Med Genet 2020 Sep 2;63(9):104000. Epub 2020 Jul 2.

University of Newcastle, Callaghan, NSW, 2308, Australia; Hunter Genetics, Hunter New England Local Health District (HNELHD), Waratah, NSW, 2298, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104000DOI Listing
September 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Epilepsy phenotype in individuals with chromosomal duplication encompassing .

Epilepsia Open 2020 Jun 9;5(2):301-306. Epub 2020 May 9.

Program in Genetics and Genome Biology Hospital for Sick Children Research Institute Toronto ON Canada.

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http://dx.doi.org/10.1002/epi4.12396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278552PMC
June 2020

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.

Am J Med Genet A 2020 07 19;182(7):1801-1806. Epub 2020 May 19.

University of Newcastle, Callaghan, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61618DOI Listing
July 2020

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

Impact of electronic polarizability on protein-functional group interactions.

Phys Chem Chem Phys 2020 Apr;22(13):6848-6860

Computer Aided Drug Design Center, Department of Pharmaceutical Sciences, University of Maryland School of Pharmacy, 20, Penn St., Baltimore, Maryland 21201, USA.

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http://dx.doi.org/10.1039/d0cp00088dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194236PMC
April 2020

Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.

BMJ Case Rep 2019 Sep 4;12(9). Epub 2019 Sep 4.

Paediatric Surgery, John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia.

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http://dx.doi.org/10.1136/bcr-2019-229938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731811PMC
September 2019

Expanding the phenotype of intellectual disability caused by HIVEP2 variants.

Am J Med Genet A 2019 09 17;179(9):1872-1877. Epub 2019 Jun 17.

Hunter Genetics, Waratah, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61271DOI Listing
September 2019

Predicting vapor liquid equilibria using density functional theory: A case study of argon.

J Chem Phys 2018 Jun;148(22):224501

Dave C. Swalm School of Chemical Engineering, and Center for Advanced Vehicular Systems, Mississippi State University, Mississippi State, Mississippi 39762, USA.

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http://dx.doi.org/10.1063/1.5025726DOI Listing
June 2018

Transferable Potentials for Chloroethenes: Insights into Nonideal Solution Behavior of Environmental Contaminants.

ACS Omega 2018 Apr 2;3(4):3646-3654. Epub 2018 Apr 2.

Dave C. Swalm School of Chemical Engineering, and Center for Advanced Vehicular Systems, Mississippi State University, Mississippi State, Mississippi 39762, United States.

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http://dx.doi.org/10.1021/acsomega.8b00044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641527PMC
April 2018

NMNAT1 variants cause cone and cone-rod dystrophy.

Eur J Hum Genet 2018 03 28;26(3):428-433. Epub 2017 Nov 28.

Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/s41431-017-0029-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839026PMC
March 2018

Performance of density functionals for modeling vapor liquid equilibria of CO and SO.

J Comput Chem 2018 Mar 21;39(8):397-406. Epub 2017 Nov 21.

Dave C. Swalm School of Chemical Engineering, and Center for Advanced Vehicular Systems, Mississippi State University, Mississippi State, MS, 39762.

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http://dx.doi.org/10.1002/jcc.25123DOI Listing
March 2018

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Eur J Med Genet 2017 Dec 9;60(12):650-654. Epub 2017 Sep 9.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.017DOI Listing
December 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.

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

Vapor Liquid Equilibria of Hydrofluorocarbons Using Dispersion-Corrected and Nonlocal Density Functionals.

J Chem Theory Comput 2016 Jul 28;12(7):3295-304. Epub 2016 Jun 28.

Dave C. Swalm School of Chemical Engineering and Center for Advanced Vehicular Systems, Mississippi State University , Mississippi State 39762, Mississippi, United States.

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http://dx.doi.org/10.1021/acs.jctc.6b00305DOI Listing
July 2016

Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.

Am J Med Genet A 2016 Apr 6;170A(4):1064-9. Epub 2016 Jan 6.

University of Newcastle, Callaghan, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37535DOI Listing
April 2016

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Eur J Med Genet 2015 Nov 23;58(11):629-33. Epub 2015 Oct 23.

Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.006DOI Listing
November 2015

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

Am J Med Genet A 2015 Sep 30;167A(9):2182-7. Epub 2015 Apr 30.

University of Newcastle, Callaghan, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37130DOI Listing
September 2015

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

Eur J Med Genet 2014 Feb 22;57(2-3):65-70. Epub 2014 Jan 22.

Hunter Genetics, Newcastle, PO Box 84, Waratah, NSW 2298, Australia; University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Level 1, Bowman Building, Callaghan, NSW 2308, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.011DOI Listing
February 2014

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility.

Birth Defects Res A Clin Mol Teratol 2013 Nov 6;97(11):755-8. Epub 2013 Nov 6.

Hunter Genetics, Waratah, NSW, Australia; University of Newcastle, Callaghan, NSW, Australia.

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http://dx.doi.org/10.1002/bdra.23200DOI Listing
November 2013

Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus.

Clin Dysmorphol 2013 Apr;22(2):68-70

University of Newcastle, Callaghan, New South Wales, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e32835f56b3DOI Listing
April 2013

Maternal attitudes to newborn screening for fragile X syndrome.

Am J Med Genet A 2013 Feb 9;161A(2):301-11. Epub 2013 Jan 9.

Genetics of Learning Disability, Hunter Genetics, Waratah, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35752DOI Listing
February 2013

Pediatric mortality due to inborn errors of metabolism in Victoria, Australia: a population-based study.

JAMA 2010 Sep;304(10):1070-2

Metabolic Service, Murdoch Children's Research Institute, Melbourne, Australia.

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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2010.1259DOI Listing
September 2010

Vacuolated lymphocytes–a diagnostic clue.

Eur J Haematol 2010 Nov;85(5):460-1

Department of Clinical Hematology, Royal Children’s Hospital, Parkville, Melbourne, Victoria, Australia. dr_rkk@rediffmail

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http://doi.wiley.com/10.1111/j.1600-0609.2010.01496.x
Publisher Site
http://dx.doi.org/10.1111/j.1600-0609.2010.01496.xDOI Listing
November 2010

Association of pro/anti-inflammatory cytokine gene variants in renal transplant patients with allograft outcome and cyclosporine immunosuppressant levels.

Biologics 2008 Dec;2(4):875-84

Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, Uttar Pradesh, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2727909PMC
http://dx.doi.org/10.2147/btt.s2459DOI Listing
December 2008

Organic anion transporter protein (OATP1B1) encoded by SLCO1B1 gene polymorphism (388A>G) & susceptibility in gallstone disease.

Indian J Med Res 2009 Feb;129(2):170-5

Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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February 2009

Clinical features and predictors of outcome in acute hepatitis A and hepatitis E virus hepatitis on cirrhosis.

Liver Int 2009 Mar;29(3):392-8

Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1111/j.1478-3231.2008.01887.xDOI Listing
March 2009

Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major.

Hematology 2008 Apr;13(2):77-82

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1179/102453308X315924DOI Listing
April 2008

Intrafamilial variability in Fraser syndrome.

Prenat Diagn 2007 Aug;27(8):778-82

Sanjay Gandhi Postgraduate Institute of Medical Sciences, Medical Genetics, India.

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http://dx.doi.org/10.1002/pd.1774DOI Listing
August 2007

Unbalanced X; autosome translocation.

Indian J Pediatr 2006 Sep;73(9):840-2

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1007/BF02790399DOI Listing
September 2006

Kawasaki disease: are we missing the diagnosis?

Indian J Pediatr 2005 Oct;72(10):873-5

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/BF02731119DOI Listing
October 2005