List of works - Usha Kini

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

scientific article

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

scientific article published on 23 March 2018

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

Acromegaloid facial appearance syndrome: a further case report

scientific article published in October 2004

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

scientific article published on 23 August 2016

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

scientific article

Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease.

scientific article published on 18 October 2012

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

scientific article published on 12 March 2016

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

scientific article published on 3 February 2016

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

scientific article published on 30 November 2016

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 01 April 2020

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 01 July 2019

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

scientific article published on 25 May 2016

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

scientific article published on 22 July 2020

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

scientific article published on 5 November 2015

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

scientific article published on 3 April 2019

Diagnosis of Pallister–Killian syndrome by array comparative genome hybridization from a spleen sample ⬇️

scientific article published on 01 January 2011

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

article

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies ⬇️

scientific article published on December 1, 2011

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

scientific article published on 04 July 2018

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

scientific article published on 10 October 2019

Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation ⬇️

scientific article published on November 19, 2012

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

scientific article published on 12 April 2021

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 17 January 2020

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

scientific article

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

scientific article

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

scientific article published on 8 April 2015

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero

scientific article published on 11 September 2007

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

scientific article published on 01 October 2019

Kapur-Toriello syndrome: a further case report and expansion of the phenotype

scientific article published in October 2015

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

scientific article

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

scientific article published on 28 January 2021

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

scientific article published on 15 November 2018

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

scientific article published on 16 January 2014

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

scientific article

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

scientific article published on 03 October 2016

Myhre syndrome with facial paralysis and branch pulmonary stenosis

scientific article published in April 2015

NOTCH, a new signaling pathway implicated in holoprosencephaly.

scientific article

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome

scientific article

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

scientific article published on 12 April 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

scientific article published on 14 June 2018

Potocki-Lupski syndrome mimicking a connective tissue disorder

scientific article published on 01 July 2008

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

scholarly article

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

scientific article published on 24 February 2016

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy ⬇️

scientific article published on 01 October 2012

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

scientific article

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

scientific article published on 13 November 2019

The clinical presentation caused by truncating CHD8 variants

scientific article published on 14 May 2019

The face of Ulnar Mammary syndrome?

scientific article published in January 2011

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 25 October 2018

Ulnar Mammary syndrome and TBX3: expanding the phenotype

scientific article published on 01 December 2009

List of works by Usha Kini

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

Acromegaloid facial appearance syndrome: a further case report

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease.

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Diagnosis of Pallister–Killian syndrome by array comparative genome hybridization from a spleen sample ⬇️

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies ⬇️

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation ⬇️

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Kapur-Toriello syndrome: a further case report and expansion of the phenotype

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Myhre syndrome with facial paralysis and branch pulmonary stenosis

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

Potocki-Lupski syndrome mimicking a connective tissue disorder

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

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy ⬇️

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

The clinical presentation caused by truncating CHD8 variants

The face of Ulnar Mammary syndrome?

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Ulnar Mammary syndrome and TBX3: expanding the phenotype