Lista de obras - Meena Balasubramanian - Dominio Público Uruguay

A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay

artículo científico publicado en 2014

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

artículo científico publicado en 2015

A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis

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

artículo científico publicado en 2016

ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism

artículo científico publicado en 2024

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

artículo científico publicado en 2016

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

scientific article published on 23 January 2019

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

scientific article published on 04 May 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Autism and heritable bone fragility: A true association?

artículo científico publicado en 2018

Biallelic variants in GLE1 with survival beyond neonatal period

scientific article published on 20 September 2020

CRTAP mutation in a patient with Cole-Carpenter syndrome

artículo científico publicado en 2015

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

artículo científico publicado en 2011

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

artículo científico

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

artículo científico publicado en 2018

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

artículo científico publicado en 2014

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

scientific article published on 22 April 2020

Clinical report

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

artículo científico publicado en 2011

Cohesin complex-associated holoprosencephaly

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

artículo científico publicado en 2016

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

artículo científico publicado en 2021

Congenital myotonic dystrophy: natural disease progression and facial dysmorphology.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

artículo científico publicado en 2020

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

scientific article published on 10 August 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

scientific article published on 14 September 2017

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

artículo científico publicado en 2017

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

scientific article published on 01 April 2019

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

artículo científico publicado en 2017

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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.

artículo científico publicado en 2016

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

artículo científico publicado en 2015

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome

scientific article published on 01 July 2019

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

scientific article published on 11 January 2020

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

artículo científico publicado en 2018

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

artículo científico publicado en 2022

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

artículo científico publicado en 2018

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

artículo científico publicado en 2019

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

scientific article published on 01 May 2018

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

artículo científico publicado en 2017

Genotype-phenotype study in type V osteogenesis imperfecta.

artículo científico publicado en 2013

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

scientific article published on 31 December 2020

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

article

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

artículo científico publicado en 2015

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

scientific article published on 15 February 2016

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

artículo científico publicado en 2009

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

scientific article published on 14 June 2018

Mosaic trisomy 11 in a fetus with bilateral renal agenesis

artículo científico publicado en 2011

Mosaicism in ASXL3-related syndrome: Description of five patients from three families

artículo científico publicado en 2020

Mutation update for the SATB2 gene

article

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

artículo científico publicado en 2018

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

artículo científico publicado en 2021

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

artículo científico publicado en 2018

Osteogenesis Imperfecta type I: the role of deep phenotyping in a patient with a ruptured uterus

artículo científico publicado en 2020

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.

artículo científico publicado en 2016

P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

artículo científico publicado en 2017

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

artículo científico publicado en 2010

Pattern of clinical genetics referral following perinatal postmortems.

artículo científico publicado en 2012

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Quantifying the contribution of recessive coding variation to developmental disorders

artículo científico publicado en 2018

Quantifying the contribution of recessive coding variation to developmental disorders

scholarly article

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.

artículo científico publicado en 2018

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.

artículo científico publicado en 2018

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta

artículo científico publicado en 2021

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

article

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

artículo científico publicado en 2018

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B

article published in 2015

The Phenotypic Continuum of ATPLA3-Related Disorders

artículo científico publicado en 2022

Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication.

artículo científico publicado en 2012

Type 1 collagenopathy presenting with a Russell-Silver phenotype

artículo científico publicado en 2011

Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta

artículo científico publicado en 2015

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

scientific article published on 25 February 2020

Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures

artículo científico publicado en 2010

Lista de obras de Meena Balasubramanian

A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay

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

A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis

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

ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism

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

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

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

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

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

Autism and heritable bone fragility: A true association?

Biallelic variants in GLE1 with survival beyond neonatal period

CRTAP mutation in a patient with Cole-Carpenter syndrome

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

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

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

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

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

Clinical report

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

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

Cohesin complex-associated holoprosencephaly

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

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Congenital myotonic dystrophy: natural disease progression and facial dysmorphology.

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

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

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

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

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

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

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.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

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

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

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

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

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

Genotype-phenotype study in type V osteogenesis imperfecta.

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

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

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

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

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

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

Mosaic trisomy 11 in a fetus with bilateral renal agenesis

Mosaicism in ASXL3-related syndrome: Description of five patients from three families

Mutation update for the SATB2 gene

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

Osteogenesis Imperfecta type I: the role of deep phenotyping in a patient with a ruptured uterus

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.

P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

Pattern of clinical genetics referral following perinatal postmortems.

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

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

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

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Quantifying the contribution of recessive coding variation to developmental disorders

Quantifying the contribution of recessive coding variation to developmental disorders

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta

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

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

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

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