Publications by authors named "Katta Mohan Girisha"

44Publications

Genetic disorders with central nervous system white matter abnormalities: An update.

Clin Genet 2020 Oct 12. Epub 2020 Oct 12.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cge.13863DOI Listing
October 2020

Trichothiodystrophy type 4 in an Indian family.

Am J Med Genet A 2020 Oct 17;182(10):2226-2229. Epub 2020 Aug 17.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.61794DOI Listing
October 2020

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Clin Dysmorphol 2020 Oct 7. Epub 2020 Oct 7.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://dx.doi.org/10.1097/MCD.0000000000000353DOI Listing
October 2020

Untapped opportunities for rare disease gene discovery in India.

Am J Med Genet A 2020 Sep 10. Epub 2020 Sep 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.61866DOI Listing
September 2020

Bosley-Salih-Alorainy syndrome in patients from India.

Am J Med Genet A 2020 Aug 31. Epub 2020 Aug 31.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.61809DOI Listing
August 2020

Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next-Generation Sequencing.

Indian Pediatr 2020 Jun;57(6):549-554

Department of Medical Genetics, Kasturba Medical College, Manipal, India. Correspondence to: Dr Girisha KM, Professor, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576 104, India.

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June 2020

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Clin Dysmorphol 2020 Jul;29(3):127-131

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://dx.doi.org/10.1097/MCD.0000000000000327DOI Listing
July 2020

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Brain 2020 04;143(4):e29

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1093/brain/awaa046DOI Listing
April 2020

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Ann Hum Genet 2020 07 2;84(4):345-351. Epub 2020 Mar 2.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/ahg.12377DOI Listing
July 2020

Spastic Paraplegia Type 56 in a Young Child.

Indian J Pediatr 2020 Aug 8;87(8):650-651. Epub 2020 Feb 8.

Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-020-03195-1DOI Listing
August 2020

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

J Hum Genet 2019 Dec 8;64(12):1237-1242. Epub 2019 Oct 8.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-019-0678-1DOI Listing
December 2019

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

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

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

Eur J Med Genet 2019 Aug 25;62(8):103708. Epub 2019 Jun 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103708DOI Listing
August 2019

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

Bone 2018 05 27;110:368-377. Epub 2018 Feb 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.02.029DOI Listing
May 2018

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Indian Pediatr 2016 Aug;53(8):735-7

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; and #Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal; India. Correspondence to: Dr Shubha Phadke, Professor and Head, Department of Medical genetics, Sanjay Gandhi Post graduate Institute, Lucknow 226 010, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s13312-016-0921-1DOI Listing
August 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

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

Eur J Hum Genet 2016 08 16;24(8):1206-10. Epub 2015 Dec 16.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970677PMC
August 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Am J Med Genet A 2016 Feb 24;170A(2):410-417. Epub 2015 Nov 24.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.37447DOI Listing
February 2016

Familial 7q11.23 duplication with variable phenotype.

Am J Med Genet A 2015 Nov 24;167A(11):2727-30. Epub 2015 Jun 24.

Department of Pediatrics, Narayana Multispecialty Hospital, Bangalore, India.

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http://dx.doi.org/10.1002/ajmg.a.37226DOI Listing
November 2015

White matter changes in GM1 gangliosidosis.

Indian Pediatr 2015 Feb;52(2):155-6

Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh; and *Kasturba Medical College, Manipal University, Manipal, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow 226 014.

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http://dx.doi.org/10.1007/s13312-015-0593-2DOI Listing
February 2015

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Eur J Med Genet 2015 Jan 24;58(1):21-7. Epub 2014 Oct 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.10.001DOI Listing
January 2015

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

Am J Med Genet A 2014 Jun 25;164A(6):1482-9. Epub 2014 Mar 25.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.36481DOI Listing
June 2014

A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

Indian J Pediatr 2014 Mar 15;81(3):302-4. Epub 2013 Oct 15.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, 576104, India,

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http://dx.doi.org/10.1007/s12098-013-1253-yDOI Listing
March 2014

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

Indian J Hum Genet 2012 Sep;18(3):346-8

Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.4103/0971-6866.108025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656526PMC
September 2012

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

Am J Med Genet A 2013 Feb 10;161A(2):352-9. Epub 2013 Jan 10.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.35730
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http://dx.doi.org/10.1002/ajmg.a.35730DOI Listing
February 2013

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

Am J Med Genet A 2012 Nov 17;158A(11):2941-5. Epub 2012 Sep 17.

Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.35618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477260PMC
November 2012

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

Am J Med Genet A 2012 May 11;158A(5):1225-8. Epub 2012 Apr 11.

Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.35295DOI Listing
May 2012

Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports.

Clin Dysmorphol 2012 Apr;21(2):83-6

Department of Pediatrics, Genetics Clinic, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1097/MCD.0b013e328350ae74DOI Listing
April 2012

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.

Clin Dysmorphol 2011 Oct;20(4):205-9

Genetics Clinic, Department of Pediatrics, Kasturba Medical College and Hospital, Manipal University, Manipal, India.

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http://dx.doi.org/10.1097/MCD.0b013e328348d956DOI Listing
October 2011

Milder form of pachydermoperiostosis: a report of four cases.

Clin Dysmorphol 2009 Apr;18(2):85-9

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1097/MCD.0b013e32832443ddDOI Listing
April 2009