List of works - Siddharth Banka

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

scientific article published on 21 April 2016

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

scientific article published on 18 May 2022

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations ⬇️

scientific article published on June 13, 2013

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

scientific article published on 20 November 2018

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy

scientific article published on 09 January 2019

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

scientific article published on 24 September 2018

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

scientific article published on 13 May 2011

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

scientific article published in December 2017

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report

scientific article

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

scientific article published on 21 May 2021

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

scientific article published in 2021

Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.

scientific article

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

scientific article published on 23 March 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

scientific article published on 27 November 2020

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

scientific article published on 03 August 2021

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

scientific article published on 09 January 2020

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

scientific article published on 3 May 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

scientific journal article

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

scientific article

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.

scientific article

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

scientific article published on 11 February 2020

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

scientific article published on 5 October 2014

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

scientific article published on 01 August 2019

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

scientific article

First report of occurrence of choroid plexus papilloma and medulloblastoma in the same patient.

scientific article published on 15 November 2006

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

scientific article

G6PC3 Deficiency

scientific article

G6PC3 mutations cause non-syndromic severe congenital neutropenia

scientific article

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

scientific article published on 20 March 2019

Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome

scientific article published on 23 August 2018

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

scientific article published on 08 October 2020

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

scientific article published on 30 November 2011

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

scientific article published on 05 February 2021

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia

scientific article published in October 2015

Kabuki syndrome: international consensus diagnostic criteria

scientific article published on 04 December 2018

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

scientific article

Liver cyst caused by the peritoneal catheter of a CSF shunt

scientific article published on 01 January 2007

Liver cyst caused by the peritoneal catheter of a cerebrospinal fluid shunt

scientific article published on 01 January 2007

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

scientific article published on 18 September 2012

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

scientific article published on 01 November 2019

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

scientific article published in August 2011

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

scientific article

Mutations in the G6PC3 gene cause Dursun syndrome.

scientific article

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

scientific article published on 05 November 2020

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

scientific article published on 21 May 2021

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

scientific article published on 27 March 2014

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

scientific article published on 03 December 2021

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

scientific article published on 27 February 2020

Pernicious anemia - genetic insights

scientific article

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

scientific article published on 20 April 2021

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

scientific article

Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al.

scientific article published on 13 October 2015

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

scientific article

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

scientific article

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

scientific article published on 21 January 2019

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

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

scientific article

The clinical presentation caused by truncating CHD8 variants

scientific article published on 14 May 2019

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

scientific article published on 01 June 2019

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

scientific article published in 2021

The genetic basis of DOORS syndrome: an exome-sequencing study

scientific article

Trisomy 18 mosaicism: report of two cases ⬇️

scientific article published on November 21, 2011

Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?

article

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

scientific article published on 8 November 2013

List of works by Siddharth Banka

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations ⬇️

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

First report of occurrence of choroid plexus papilloma and medulloblastoma in the same patient.

Further delineation of the KAT6B molecular and phenotypic spectrum

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

G6PC3 Deficiency

G6PC3 mutations cause non-syndromic severe congenital neutropenia

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia

Kabuki syndrome: international consensus diagnostic criteria

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Liver cyst caused by the peritoneal catheter of a CSF shunt

Liver cyst caused by the peritoneal catheter of a cerebrospinal fluid shunt

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

Mutations in the G6PC3 gene cause Dursun syndrome.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

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

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Pernicious anemia - genetic insights

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al.

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

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

The clinical presentation caused by truncating CHD8 variants

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

The genetic basis of DOORS syndrome: an exome-sequencing study

Trisomy 18 mosaicism: report of two cases ⬇️

Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype