Meena Balasubramanian

Meena Balasubramanian

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Meena Balasubramanian

Meena Balasubramanian

Publications by authors named "Meena Balasubramanian"

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Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.

Clin Dysmorphol 2019 Oct 1. Epub 2019 Oct 1.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield.

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http://dx.doi.org/10.1097/MCD.0000000000000298DOI Listing
October 2019

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.

Mol Genet Genomic Med 2019 Sep 30:e912. Epub 2019 Sep 30.

School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1002/mgg3.912DOI Listing
September 2019

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.

Clin Dysmorphol 2019 Jul;28(3):160-163

Sheffield Clinical Genetics Service.

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http://dx.doi.org/10.1097/MCD.0000000000000280DOI Listing
July 2019

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Bone 2019 Apr 23;121:191-195. Epub 2019 Jan 23.

Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.bone.2019.01.022DOI Listing
April 2019

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

Eur J Med Genet 2019 Feb 14;62(2):109-114. Epub 2018 Jun 14.

Wellcome Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.011DOI Listing
February 2019

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Gene 2019 Feb 25;685:50-54. Epub 2018 Oct 25.

Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119183111
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http://dx.doi.org/10.1016/j.gene.2018.10.067DOI Listing
February 2019

Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype.

Am J Med Genet A 2019 01 17;179(1):139-140. Epub 2018 Dec 17.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.60680DOI Listing
January 2019

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Epilepsy Res 2018 11 10;147:121. Epub 2018 Aug 10.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.019DOI Listing
November 2018

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Eur J Paediatr Neurol 2018 Nov 27;22(6):1095-1102. Epub 2018 Aug 27.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.08.002DOI Listing
November 2018

SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

Clin Dysmorphol 2018 Oct;27(4):113-115

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield.

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http://dx.doi.org/10.1097/MCD.0000000000000232DOI Listing
October 2018

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Am J Med Genet A 2018 05;176(5):1238-1244

Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38683DOI Listing
May 2018

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Am J Med Genet A 2018 05;176(5):1049-1054

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38656DOI Listing
May 2018

Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.

Ophthalmic Genet 2018 04 7;39(2):286-287. Epub 2017 Nov 7.

c Sheffield Clinical Genetics Service , Sheffield Children's NHS Foundation Trust , Sheffield , UK.

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http://dx.doi.org/10.1080/13816810.2017.1393827DOI Listing
April 2018

Clinical and molecular characterization of the first familial report of 1p32 microdeletion.

Clin Dysmorphol 2018 Apr;27(2):36-41

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000209DOI Listing
April 2018

recurrent missense mutation causing Cole-Carpenter syndrome.

J Med Genet 2018 03 20;55(3):158-165. Epub 2017 Dec 20.

Cell Biology Laboratories, School of Biochemistry, University of Bristol, Bristol, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104899
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http://dx.doi.org/10.1136/jmedgenet-2017-104899DOI Listing
March 2018

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Epilepsy Res 2018 02 3;140:166-170. Epub 2018 Feb 3.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.01.014DOI Listing
February 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Am J Med Genet A 2017 Dec 14;173(12):3165-3171. Epub 2017 Sep 14.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.38461DOI Listing
December 2017

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Am J Med Genet A 2017 Nov 25;173(11):3003-3012. Epub 2017 Sep 25.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.38492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555908PMC
November 2017

Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.

Clin Dysmorphol 2017 Oct;26(4):228-230

aYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds bClinical Genetics Service, City Hospital Campus cDepartment of Cytogenetics, Nottingham University Hospitals NHS Trust, Nottingham dDepartment of Paediatric Psychology eHighly Specialised Severe, Complex and Atypical OI Service fSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust gAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000186DOI Listing
October 2017

Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.

Clin Dysmorphol 2017 Jan;26(1):38-40

aSheffield Diagnostic Genetics Service bSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000154DOI Listing
January 2017

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.

Am J Med Genet A 2016 12 23;170(12):3303-3307. Epub 2016 Aug 23.

Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37943DOI Listing
December 2016

Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

Am J Med Genet A 2016 12 30;170(12):3150-3156. Epub 2016 Aug 30.

Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.37958DOI Listing
December 2016

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.

Gene 2016 Dec 25;595(1):49-52. Epub 2016 Sep 25.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK; Highly Specialised Severe, Complex & Atypical OI Service, Sheffield Children's NHS Foundation Trust, UK. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.09.035DOI Listing
December 2016

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Am J Med Genet A 2016 07 5;170(7):1918-23. Epub 2016 May 5.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37680DOI Listing
July 2016

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.

J Invest Dermatol 2016 05 15;136(5):1056-1059. Epub 2016 Feb 15.

Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2015.11.031DOI Listing
May 2016

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

Am J Med Genet A 2016 Feb 15;170A(2):476-481. Epub 2015 Oct 15.

Academic Unit of Child Health, University of Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37431DOI Listing
February 2016

Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability.

Clin Dysmorphol 2016 Jan;25(1):19-22

aSheffield Clinical Genetics Service bDepartment of Paediatrics cSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000097DOI Listing
January 2016

Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.

Clin Dysmorphol 2015 Oct;24(4):151-5

aSheffield Clinical Genetics Service bSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000096DOI Listing
October 2015

A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.

J Hum Genet 2015 Jun 12;60(6):313-7. Epub 2015 Mar 12.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1038/jhg.2015.22DOI Listing
June 2015

Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.

Clin Dysmorphol 2015 Apr;24(2):45-54

aSheffield Clinical Genetics Service bDepartment of Histopathology cSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust dElectron Microscopy Unit, Department of Histopathology, Royal Hallamshire Hospital eNational EDS Service fAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000066DOI Listing
April 2015

CRTAP mutation in a patient with Cole-Carpenter syndrome.

Am J Med Genet A 2015 Mar 21;167A(3):587-91. Epub 2015 Jan 21.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.36916DOI Listing
March 2015

Congenital myotonic dystrophy: natural disease progression and facial dysmorphology.

Clin Dysmorphol 2014 Oct;23(4):127-9

aSheffield Clinical Genetics Service bSheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000053DOI Listing
October 2014

Short sternum: feature of trisomy chromosome 7 and a new association?

Pediatr Dev Pathol 2014 Jan-Feb;17(1):70-2. Epub 2013 Dec 26.

Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, S10 2TH United Kingdom.

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http://dx.doi.org/10.2350/13-11-1405-LET.1DOI Listing
May 2014

Pneumothorax from subpleural blebs-a new association of sotos syndrome?

Am J Med Genet A 2014 May 23;164A(5):1222-6. Epub 2014 Jan 23.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, Yorkshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36406DOI Listing
May 2014

Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.

Eur J Paediatr Neurol 2013 Nov 24;17(6):661-5. Epub 2013 Jun 24.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2013.05.003DOI Listing
November 2013

Genotype-phenotype study in type V osteogenesis imperfecta.

Clin Dysmorphol 2013 Jul;22(3):93-101

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32836032f0DOI Listing
July 2013

Pattern of clinical genetics referral following perinatal postmortems.

Pediatr Dev Pathol 2012 Nov-Dec;15(6):478-86. Epub 2012 Sep 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, United Kingdom.

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http://dx.doi.org/10.2350/12-06-1206-OA.1DOI Listing
March 2013

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.33998DOI Listing
June 2011

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

Clin Dysmorphol 2011 Jan;20(1):47-9

Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK.

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https://insights.ovid.com/crossref?an=00019605-201101000-000
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http://dx.doi.org/10.1097/MCD.0b013e32833ff2e9DOI Listing
January 2011

IMAGe syndrome: Case report with a previously unreported feature and review of published literature.

Am J Med Genet A 2010 Dec;152A(12):3138-42

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33716
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http://dx.doi.org/10.1002/ajmg.a.33716DOI Listing
December 2010

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.

Eur J Med Genet 2009 Jul-Aug;52(4):234-8. Epub 2009 May 4.

Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900055
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http://dx.doi.org/10.1016/j.ejmg.2009.04.005DOI Listing
November 2009

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Am J Med Genet A 2009 Feb;149A(4):793-7

Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.32463DOI Listing
February 2009