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List of works by Katta Mohan Girisha

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

scientific article

A dyadic approach to the delineation of diagnostic entities in clinical genomics

scientific article published on 01 January 2021

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

scientific article published on 16 February 2016

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ

scientific article published on 01 May 2018

A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

scientific article published on 15 March 2016

A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy

scientific article published on 10 July 2019

A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

scientific article

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

scientific article published on 16 December 2015

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

scientific article published on 29 January 2014

A novel sequence variant in SFRP4 causing Pyle disease

scientific article published on 19 January 2017

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

scientific article published on 15 June 2017

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

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

scientific article published on 27 June 2019

Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia

scientific article published on 12 January 2011

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

scientific article published on 17 September 2012

Anomalies associated with single umbilical artery at perinatal autopsy

scientific article published on 01 January 2015

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

scientific article

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

scientific article published in Nature

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

scientific article published on 29 November 2016

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

scientific article published on 26 May 2016

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

scientific article published on 31 October 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

scientific article published on 01 December 2018

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

scientific article published on 22 August 2018

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article published on 01 December 2016

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

scientific article published on 27 December 2019

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

scientific article published on 05 January 2021

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

scientific article published on 22 November 2019

Bosley-Salih-Alorainy syndrome in patients from India

scientific article published on 31 August 2020

CFTR mutations in India: need to do more!: geneticist's perspective

scientific article published on 01 March 2014

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

scientific article

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation

scientific article published on 24 April 2017

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

scientific article published on 24 November 2015

Clinical utility of fetal autopsy and its impact on genetic counseling.

scientific article published on 5 April 2015

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

scientific article published on 21 April 2015

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy

scientific article published on 21 December 2016

Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis

scientific article published on 29 August 2009

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

scientific article published on 25 June 2019

Congenital omphalocele and cleft palate in two fetuses.

scientific article published on 11 February 2016

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

scientific journal article

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

scientific article published on 01 November 2010

Cover Image, Volume 173A, Number 9, September 2017.

scientific article published in September 2017

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

scientific article published on 06 April 2021

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

scientific article published on 27 February 2018

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families

scientific article published on 08 April 2020

Down syndrome in diverse populations

scientific article published in January 2017

Down syndrome: clinical profile from India

scientific article published on 01 January 2004

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

scientific article

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

scientific article published on 10 January 2013

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

scientific article published on 08 August 2018

Facial profile and additional features in fetuses with trisomy 21

scientific article published on 01 October 2018

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

scientific article published on 08 July 2014

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.

scientific article

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

scientific article published on 16 May 2018

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

scientific article published on 22 September 2014

GATAD2B-related intellectual disability due to parental mosaicism and review of literature

scientific article published on 01 October 2019

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

article

Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update

scientific article published on 12 October 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

scientific article published on 17 September 2019

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

scientific article published on 05 July 2018

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

scientific article

Genomic and phenotypic delineation of congenital microcephaly

scientific article published on 14 September 2018

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

scientific article published on 24 August 2013

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

scientific article

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

scientific article published on 17 September 2012

Handless, footless fetus

scientific article published on 01 October 2006

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

scientific article

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

scientific article published on 12 July 2017

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

scientific article published on 08 June 2016

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

scientific article published on 30 March 2017

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

scientific article published on 08 October 2019

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

scientific article published on 01 August 2019

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature

scientific article published on 14 May 2015

Hunting for Mutations in Indian Patients with Hunter Syndrome

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

scientific article published on 7 March 2017

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

scientific article published on 14 February 2019

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails

scientific article published on 01 October 2011

Ichthyosis congenita with biliary atresia: a rare association

scientific article published on 01 July 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 and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

scientific article published on 10 July 2020

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

scientific article published on 10 November 2016

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

scientific article published on 28 February 2019

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

scientific article published on 06 August 2019

Immunological response to two hepatitis B vaccines administered in two different schedules

scientific article published on 01 June 2006

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

scientific article

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

scientific article published on 7 April 2017

Introducing in AJMG Part A: Case reports in diverse populations

scientific article published on 01 July 2018

Is coloboma a feature of fetal valproate syndrome?

scientific article

Jejunal atresia and postaxial polydactyly: a newly recognized phenotype

scientific article published on 01 July 2013

LACC1 gene mutation in three sisters with polyarthritis without systemic features

scientific article published on 06 December 2019

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

scientific article published on 27 November 2018

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

scientific article published on 18 October 2018

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

scientific article published in April 2008

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis

scientific article

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

scientific article published in March 2010

Meckel syndrome: Clinical and mutation profile in six fetuses

scientific article published on 21 August 2019

Metatropic Dysplasia with a Novel Mutation in TRPV4.

scientific article published in August 2016

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

scientific article published on 17 February 2014

Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus

scientific article published in September 2015

Milder form of pachydermoperiostosis: a report of four cases

scientific article published on 01 April 2009

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

scientific article

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

scientific article published on 25 March 2014

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

scientific article published on 16 July 2020

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

scientific article published on 22 May 2020

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

scientific article published on 24 October 2014

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

scientific article published on 01 January 2019

Noonan syndrome in diverse populations.

scientific article

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis

scientific article published on January 2016

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

scientific article published on 14 November 2017

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

scientific article published on 08 May 2015

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve–Melchior–Clausen syndrome

scientific article published on 24 December 2007

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type

scientific article

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV

scientific article published on 01 January 2019

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

scientific article published on 07 November 2019

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

scientific article published on 10 April 2017

Opsismodysplasia

scientific article published on 19 March 2010

Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community.

scientific article published on 13 August 2014

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Pfeiffer Syndrome with Extreme Proptosis, Hypothyroidism and Tail like Appendage.

scientific article

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

scientific article

Phenotypes and genotypes in individuals with SMC1A variants.

scientific article published on 26 May 2017

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome

scientific article published on 29 September 2020

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

scientific article published on 18 May 2016

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

scientific article published on 06 November 2018

Placental Teratoma Presenting as a Lobulated Mass behind the Neck of Fetus: A Case Report ⬇️

scientific article published on June 19, 2012

Preimplantation diagnosis of genetic diseases ⬇️

scientific article published on October 1, 2010

Profile of patients with Von Gierke disease from India

scientific article published on 01 November 2011

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

scientific article published on 13 July 2017

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

scientific article published in Nature

Recurrent and novel GLB1 mutations in India

scientific article

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

scientific article

Report of second case and clinical and molecular characterization of Eiken syndrome

scientific article published on 27 July 2018

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

scientific article published on 05 April 2018

Response to Hall et al

scientific article published on 01 December 2020

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

scientific article published on 11 August 2020

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

scientific article published on 07 December 2020

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

scientific article

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome

scientific article published on 01 January 2011

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

scientific article published on 22 March 2018

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

scientific article published on 07 March 2017

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype

scientific article published on 19 December 2018

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 urorectal septum malformation sequence

scientific article published on 10 December 2015

Symmetrical terminal transverse limb deficiencies

scientific article published on 05 November 2014

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

scientific article

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

scientific article published on 21 December 2018

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

scientific article published on 11 May 2016

The promise of discovering population-specific disease-associated genes in South Asia

scientific article published on 17 July 2017

The third family with Eiken syndrome

scientific article published on 11 July 2019

Three M syndrome 2 in two Indian patients

scientific article published on 01 November 2020

Torg-Winchester syndrome: lack of efficacy of pamidronate therapy

scientific article published in April 2007

Trichothiodystrophy type 4 in an Indian family

scientific article published on 17 August 2020

Turner syndrome in diverse populations

scientific article published on 19 December 2019

Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence.

scientific article

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

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

scientific article published on 14 September 2016

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities

scientific article published on 02 April 2019

What does fetal autopsy unmask in oligohydramnios?

scientific article published on 18 September 2015

White matter changes in GM1 gangliosidosis

scientific article published in February 2015

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

scientific article published on 17 November 2017

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