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List of works by Shubha R Phadke

A Mutagenic Primer Assay for Genotyping of the CRHR1 Gene Rare Variant rs1876828 (A/G) in Asians: A Cost-Effective SNP Typing

scientific article published on 26 December 2014

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

scientific article published on 05 March 2012

A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation

scientific article published on 01 October 2018

A novel genotyping method for detection of the CRHR1 (rs1396862: C>T) gene variation among North Indian population

scientific article published on 23 January 2014

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy.

scientific article published on September 2016

A novel variant in MED12 gene: Further delineation of phenotype

scientific article published on 23 May 2017

A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome.

scientific article published in August 2008

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

scientific article published on 23 January 2014

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

scientific article

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

scientific article published on 17 September 2012

Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins

scientific article published on 30 September 2011

Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India.

scientific article published on 15 January 2014

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages.

scientific article published on 25 June 2016

Atlantoaxial dislocation in a child affected by warfarin embryopathy: a case report

scientific article published on 01 July 2013

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

scientific article published on 7 April 2016

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

scientific article published on 01 October 2018

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

COL1A1 Mutation in an Indian Child with Caffey Disease

scientific article published on 20 January 2011

Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program

scientific article published on 14 October 2020

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene

scientific article published on 01 February 2016

Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling.

scientific article

Chronic myeloid leukemia in case of Klinefelter syndrome.

scientific article published on January 2014

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

scientific article published on 24 November 2015

Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent.

scientific article

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

scientific article published on 21 April 2015

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

scientific article published on 04 April 2016

Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation.

scientific article published in April 2016

Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation

scientific article published on 12 March 2012

Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know

scientific article published on 20 March 2018

Congenital swan neck deformity of fingers with syndactyly

scientific article published on 01 April 2008

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

scientific article published on 15 March 2018

Consanguinity as an Adjunct Diagnostic Tool.

scientific article published on 4 July 2015

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

scientific article published on 01 November 2010

De novo SOX11 mutations cause Coffin-Siris syndrome

scientific article (publication date: 2 June 2014)

Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes

scientific article published on 10 December 2018

Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis

scientific article published on 01 August 2010

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation

scientific article published on 05 August 2014

Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray.

scientific article published in October 2017

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

scientific article published in August 2015

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.

scientific article published on April 2017

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D

scientific article published on 01 October 2018

Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.

scientific article

Feasibility study of an outreach program of newborn screening in Uttar Pradesh

scientific article published in November 2014

Fetal intra abdominal umbilical vein varix: Case series and review of literature

scientific article published on January 2017

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

scientific article published on 6 August 2013

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

scientific article published on 25 March 2019

Floating Harbor Syndrome

scientific article published on 21 May 2016

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

scientific article published on 08 July 2012

Further delineation of acro-renal-mandibular syndrome

scientific article published on 01 April 2006

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

scientific article published on 22 September 2014

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

article

Gene expression profiling of coronary artery disease and its relation with different severities

scientific article published on 01 September 2018

Genetic insight of schizophrenia: past and future perspectives.

scientific article published on 17 October 2013

Genetic testing in children

scientific article published on 01 September 2013

Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children

article

Genetic variations of the FCER2 gene and asthma susceptibility in north Indian children: a case-control study.

scientific article published on 8 October 2013

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

scientific article published on 24 August 2013

Genotyping the CRHR1 rs242939 (A>G) Polymorphism by a One-Step Tetra Primer–Amplification Refractory Mutation System–Polymerase Chain Reaction ⬇️

scientific article published on February 21, 2012

Handless, footless fetus

scientific article published on 01 October 2006

Hemihyperplasia syndromes

scientific article published on 01 July 2006

Hemophilia care in India: a review and experience from a tertiary care centre in uttar pradesh.

scientific article

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome

scientific article published on 4 June 2017

Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum

scientific article published on 01 February 2016

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing

scientific article published in September 2017

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

scientific article published on 26 May 2016

Identification of DKC1 gene mutation in an Indian patient.

scientific article

Implication of HLA-G 5' upstream regulatory region polymorphisms in idiopathic recurrent spontaneous abortions.

scientific article published on 16 October 2014

Infantile Systemic Hyalinosis with Mutation in ANTXR2

scientific article published on 25 January 2016

Intracardiac echogenic focus and fetal outcome

scientific article published on 01 November 2010

Intractable ascites as a manifestation of Wolman's disease: report of two sibs

scientific article published on 25 September 2012

KBG syndrome: 16q24.3 microdeletion in an Indian patient

scientific article published on 01 July 2017

Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey

scientific article published on 21 November 2015

Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners

scientific article published on 26 October 2011

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

scientific article published in April 2008

Lysosomal Storage Disorders: Present and Future.

scientific article published in December 2015

Malan syndrome: Extension of genotype and phenotype spectrum

scientific article published on 10 December 2018

Metatropic Dysplasia with a Novel Mutation in TRPV4.

scientific article published in August 2016

Milder form of pachydermoperiostosis: a report of four cases

scientific article published on 01 April 2009

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls

scientific article published on 9 February 2018

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

scientific article published in January 2010

Morphometric analysis of face in dysmorphology.

scientific article published on 21 November 2006

Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.

scientific article published on 7 February 2012

Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

scientific article published in February 2009

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

scientific article published on 03 August 2015

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

scientific article published on 25 March 2014

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

scientific article published on 24 October 2014

Neural tube defects: A need for population-based prevention program ⬇️

scientific article published on May 1, 2012

Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.

scientific article published in September 2014

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies

scientific article published on 12 September 2017

Noonan syndrome in diverse populations.

scientific article

Novel and recurrent mutations in WISP3 and an atypical phenotype.

scientific article published on 18 May 2015

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

scientific article

Performance of QF-PCR in targeted prenatal aneuploidy diagnosis: Indian scenario

scientific article

Pericentric inversion causing duplication and deletion of chromosome region 13q22 --> qter in the offspring

scientific article published on 01 January 2007

Phenotypic characterization of derivative 22 syndrome: case series and review

article

Platelet-specific collagen receptor glycoprotein VI gene variants affect recurrent pregnancy loss.

scientific article

Polydactyly and genes.

scientific article published on 22 February 2010

Post-mortem examination of prenatally diagnosed fatal renal malformation

scientific article published on 03 July 2008

Posterior reversible encephalopathy syndrome following blood transfusion in a patient with factor X deficiency: Is it an unusual systemic manifestation of an adverse transfusion reaction?

scientific article published on 6 December 2017

Prenatal diagnosis in India is not limited to sex selection.

scientific article

Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?

scientific article published on 01 November 2011

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.

scientific article published in December 2017

Profile of patients with Von Gierke disease from India

scientific article published on 01 November 2011

Pycnodysostosis: mutation spectrum in five unrelated Indian children

scientific article published on 01 July 2016

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis

scientific article published on 23 August 2017

Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family

scientific article published on 19 December 2010

Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

scientific article published on 01 October 2011

Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: time to explore the genetics

scientific article published on 17 May 2013

Recurrent and novel GLB1 mutations in India

scientific article

Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability

scientific article published on December 2015

Recurrent pregnancy loss and apolipoprotein E gene polymorphisms: a case–control study from north India

scientific article published on 01 September 2010

Renpenning syndrome in an Indian patient

scientific article published on 16 December 2019

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

scientific article published on 10 December 2010

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

scientific article published on 01 January 2010

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

scientific article published on 5 June 2016

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum

scientific article published on 09 May 2018

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

scientific article published on 22 March 2018

Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome

scientific article published on 01 January 2007

Smith-Magenis Syndrome: Face Speaks

scientific article published on 17 December 2015

Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia.

scientific article published on 9 November 2017

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

scientific article published on 23 January 2019

Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.

scientific article published on 30 March 2012

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

scientific article published on 24 June 2016

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis

scientific article published on 04 July 2018

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

scientific article published in April 2017

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families

scientific article published on 18 October 2016

Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap.

scientific article published in April 2007

Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India.

scientific article

Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.

scientific article

Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population

scientific article published on 01 June 2018

Symmetrical terminal transverse limb deficiencies

scientific article published on 05 November 2014

Syndromic versus nonsyndromic atlantoaxial dislocation: do clinico-radiological differences have a bearing on management?

scientific article

The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth.

scientific article

The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss.

scientific article

Turner syndrome in diverse populations

scientific article published on 19 December 2019

Untapped opportunities for rare disease gene discovery in India

scientific article published on 10 September 2020

Unusual skin manifestations in a patient with menkes disease.

scientific article

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation.

scientific article published on 5 July 2007

Use of strain, strain rate, tissue velocity imaging, and endothelial function for early detection of cardiovascular involvement in patients with beta-thalassemia

scientific article published on May 2017

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

scientific article published on October 2016

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy ⬇️

scientific article published on January 1, 2012

Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype.

scientific article published on 21 February 2013

Vascular endothelial growth factor gene polymorphisms and association with age related macular degeneration in Indian patients

scientific article published on 22 July 2016

Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriages

scientific article published on 31 August 2010

White matter changes in GM1 gangliosidosis

scientific article published in February 2015

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.

scientific article published on 21 November 2017

Williams syndrome: a case series

scientific article published on 01 May 2014

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India

scientific article published on 10 September 2015

Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta

scientific article published on 01 March 2016

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