Find Research Outputs

Search concepts
Selected filters
2017
11 Citations (Scopus)

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

Guo, L., Girisha, K. M., Iida, A., Hebbar, M., Shukla, A., Shah, H., Nishimura, G., Matsumoto, N., Nismath, S., Miyake, N. & Ikegawa, S., 01-03-2017, In : Journal of Human Genetics. 62, 3, p. 437-441 5 p.

Research output: Contribution to journalArticle

Leucine
Phosphotransferases
Mutation
Genes
Acro-Osteolysis
2016
3 Citations (Scopus)

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

Hebbar, M., Prasada L, H., Bhowmik, A. D., Trujillano, D., Shukla, A., Chakraborti, S., Kandaswamy, K. K., Rolfs, A., Kamath, N., Dalal, A., Bielas, S. & Girisha, K. M., 01-09-2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2486-2489 4 p.

Research output: Contribution to journalLetter

2017
1 Citation (Scopus)

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

Zhang, J. F., James, F., Shukla, A., Girisha, K. M. & Paciorkowski, A. R., 27-06-2017, In : BMC Research Notes. 10, 1, 233.

Research output: Contribution to journalArticle

India
Alleles
Exome
Population
Nucleotides
2016
1 Citation (Scopus)

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

Hebbar, M., Girisha, K. M. & Shukla, A., 13-05-2016, In : BMJ Case Reports. 2016, 215162.

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Tooth Abnormalities
Clavicle
Inborn Genetic Diseases
Skull
2013
3 Citations (Scopus)

Jejunal atresia and postaxial polydactyly: A newly recognized phenotype

Girisha, K. M., Nayak, S. S., Rawal, A., Roopa, P. S. & Shetty, J., 07-2013, In : Clinical Dysmorphology. 22, 3, p. 121-123 3 p.

Research output: Contribution to journalComment/debate

2012
1 Citation (Scopus)
Infectious Arthritis
Tibia
Femur
Bone and Bones
Knee
2015
1 Citation (Scopus)

Anomalies associated with single umbilical artery at perinatal autopsy

Nayak, S. S., Shukla, A. & Girisha, K. M., 01-01-2015, In : Indian Pediatrics. 52, 1, p. 73-74 2 p.

Research output: Contribution to journalArticle

Single Umbilical Artery
Autopsy
Fetus
Aborted Fetus
Gestational Age
1 Citation (Scopus)

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

Bartakke, S., Saindane, A., Udgirkar, V., Shrividya, S., Bhavani, G. S. L. & Girisha, K. M., 01-11-2015, In : Indian Journal of Pediatrics. 82, 11, p. 1073-1074 2 p.

Research output: Contribution to journalLetter

2011
4 Citations (Scopus)

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

Shah, H., Singh, G., Vijayan, S. & Girisha, K. M., 01-2011, In : Clinical Dysmorphology. 20, 1, p. 55-57 3 p.

Research output: Contribution to journalArticle

2015

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

Shukla, A., Mandal, K., Patil, S. J., Kishore, Y., Phadke, S. R. & Girisha, K. M., 01-08-2015, In : American Journal of Medical Genetics, Part A. 167, 8, p. 1927-1931 5 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Williams Syndrome
2014
13 Citations (Scopus)

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Nampoothiri, S., Yesodharan, D., Sainulabdin, G., Narayanan, D., Padmanabhan, L., Girisha, K. M., Cathey, S. S., De Paepe, A., Malfait, F., Syx, D., Hennekam, R. C., Bonafe, L., Unger, S. & Superti-Furga, A., 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2317-2323 7 p.

Research output: Contribution to journalArticle

Rare Diseases
Tertiary Care Centers
Developing Countries
India
Gatekeeping
2016
2 Citations (Scopus)

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

Ranganath, P., Matta, D., Bhavani, G. S. L., Wangnekar, S., Jain, J. M. N., Verma, I. C., Kabra, M., Puri, R. D., Danda, S., Gupta, N., Girisha, K. M., Sankar, V. H., Patil, S. J., Ramadevi, A. R., Bhat, M., Gowrishankar, K., Mandal, K., Aggarwal, S., Tamhankar, P. M., Tilak, P. & 2 others, Phadke, S. R. & Dalal, A., 01-10-2016, In : American Journal of Medical Genetics, Part A. 170, 10, p. 2719-2730 12 p.

Research output: Contribution to journalArticle

Sphingomyelin Phosphodiesterase
Mutation
Acids
India
Founder Effect
2019

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

Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Type 1 Pena Shokeir syndrome
2016

Congenital high airway obstruction syndrome presenting as nonimmune hydrops in a 19-week fetus

Mundkur, A., Nayak, S. S., Vasudeva, A., Katta, G. M. & Kumar, P., 01-09-2016, In : International Journal of Infertility and Fetal Medicine. 7, 3, p. 99-102 4 p.

Research output: Contribution to journalArticle

Airway Obstruction
Edema
Fetus
Hydrops Fetalis
Pregnancy
2019

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

Kaur, P., Neethukrishna, K., Kumble, A., Girisha, K. M. & Shukla, A., 01-05-2019, In : American Journal of Medical Genetics, Part A. 179, 5, p. 857-861 5 p.

Research output: Contribution to journalArticle

Brain Diseases
Internal Capsule
Inborn Errors Metabolism
Microcephaly
Muscle Hypotonia
1 Citation (Scopus)

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

Salian, S., Nampoothiri, S., Shukla, A. & Girisha, K. M., 01-01-2019, In : Congenital Anomalies. 59, 1, p. 26-27 2 p.

Research output: Contribution to journalArticle

2016
7 Citations (Scopus)

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

Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 06-04-2016, In : BMC Medical Genetics. 17, 1, 27.

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Filamins
Immunoglobulins
9 Citations (Scopus)

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

Uttarilli, A., Ranganath, P., Matta, D., Md Nurul Jain, J., Prasad, K., Babu, A. S., Girisha, K. M., Verma, I. C., Phadke, S. R., Mandal, K., Puri, R. D., Aggarwal, S., Danda, S., Sankar, V. H., Kapoor, S., Bhat, M., Gowrishankar, K., Hasan, A. Q., Nair, M., Nampoothiri, S. & 1 others, Dalal, A., 01-12-2016, In : Clinical Genetics. 90, 6, p. 496-508 13 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Mucopolysaccharidosis I
Iduronidase
Mucopolysaccharidoses
Mutation
2014
8 Citations (Scopus)

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

Rajasimha, H. K., Shirol, P. B., Ramamoorthy, P., Hegde, M., Barde, S., Chandru, V., Ravinandan, M. E., Ramchandran, R., Haldar, K., Lin, J. C., Babar, I. A., Girisha, K. M., Srinivasan, S., Navaneetham, D., Battu, R., Devarakonda, R., Kini, U., Vijayachandra, K. & Verma, I. C., 2014, In : Genetics Research. 96, e009.

Research output: Contribution to journalArticle

Rare Diseases
India
Organizations
Patient Advocacy
Molecular Pathology
2019
1 Citation (Scopus)

Gaucher disease: Single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation 06 Biological Sciences 0601 Biochemistry and Cell Biology

Sheth, J., Bhavsar, R., Mistri, M., Pancholi, D., Bavdekar, A., Dalal, A., Ranganath, P., Girisha, K. M., Shukla, A., Phadke, S., Puri, R., Panigrahi, I., Kaur, A., Muranjan, M., Goyal, M., Ramadevi, R., Shah, R., Nampoothiri, S., Danda, S., Datar, C. & 3 others, Kapoor, S., Bhatwadekar, S. & Sheth, F., 14-02-2019, In : BMC Medical Genetics. 20, 1, 31.

Research output: Contribution to journalArticle

Gaucher Disease
Biological Science Disciplines
Biochemistry
Cell Biology
Mutation
2017
7 Citations (Scopus)

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Hammarsjö, A., Wang, Z., Vaz, R., Taylan, F., Sedghi, M., Girisha, K. M., Chitayat, D., Neethukrishna, K., Shannon, P., Godoy, R., Gowrishankar, K., Lindstrand, A., Nasiri, J., Baktashian, M., Newton, P. T., Guo, L., Hofmeister, W., Pettersson, M., Chagin, A. S., Nishimura, G. & 6 others, Yan, L., Matsumoto, N., Nordgren, A., Miyake, N., Grigelioniene, G. & Ikegawa, S., 01-12-2017, In : Scientific Reports. 7, 1, 15585.

Research output: Contribution to journalArticle

Nonsense Codon
Orofaciodigital Syndromes
Thorax
Phenotype
Mutation
2018
6 Citations (Scopus)
Microcephaly
Quadriplegia
Muscle Spasticity
Seizures
Cisterna Magna
7 Citations (Scopus)

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

Mrosk, J., Bhavani, G. S. L., Shah, H., Hecht, J., Krüger, U., Shukla, A., Kornak, U. & Girisha, K. M., 01-05-2018, In : Bone. 110, p. 368-377 10 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Genetic Association Studies
Mutation
Exome
Bony Callus
2016
Ichthyosis
Single Nucleotide Polymorphism
Mutation
DNA
Genes
14 Citations (Scopus)

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Cho, S. Y., Bae, J. S., Kim, N. K. D., Forzano, F., Girisha, K. M., Baldo, C., Faravelli, F., Cho, T. J., Kim, D., Lee, K. Y., Ikegawa, S., Shim, J. S., Ko, A. R., Miyake, N., Nishimura, G., Superti-Furga, A., Spranger, J., Kim, O. H., Park, W. Y. & Jin, D. K., 02-06-2016, In : American Journal of Human Genetics. 98, 6, p. 1243-1248 6 p.

Research output: Contribution to journalArticle

Mutation
Biglycan
Transforming Growth Factor beta
Exome
Missense Mutation
2014
72 Citations (Scopus)

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

Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, Ş., Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Smeland, M. F., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M. & 55 others, Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S. A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S. M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellåker, C., Taylor, M. S. & FitzPatrick, D. R., 2014, In : Journal of Medical Genetics. 51, 10, p. 659-668 10 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Mosaicism
Genetic Heterogeneity
Phenotype
Mutation
3 Citations (Scopus)

Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis

Daly, S. B., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., Al-Sheqaih, N., Mueed Bidchol, A., Banka, S., Newman, W. G. & Girisha, K. M., 2014, In : Molecular Syndromology. 5, 5, p. 218-228 11 p.

Research output: Contribution to journalArticle

Arthrogryposis
Exome
Brachydactyly
Syndactyly
Neuromuscular Diseases
2019
2 Citations (Scopus)

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

Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traoré, M., Nitschké, P., Injeyan, M., Millar, K., Chitayat, D., Shannon, P., Girisha, K. M., Shukla, A., Mechler, C., Lorentzen, E., Benmerah, A., Cormier-Daire, V. & 3 others, Jeanpierre, C., Saunier, S. & Delous, M., 15-08-2019, In : Human Molecular Genetics. 28, 16, p. 2720-2737 18 p.

Research output: Contribution to journalArticle

Microtubule Proteins
Centrosome
Centrioles
Cilia
Ribs
2017
21 Citations (Scopus)

Down syndrome in diverse populations

Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., La Qua, S., Shotelersuk, V., Chung, B. H. Y., Mok, G. T. K., Uwineza, A., Mutesa, L., Moresco, A., Obregon, M. G., Sokunbi, O. J., Kalu, N., Joseph, D. A., Ikebudu, D., Ugwu, C. E., Okoromah, C. A. N., Addissie, Y. A., Pardo, K. L. & 24 others, Brough, J. J., Lee, N. C., Girisha, K. M., Patil, S. J., Ng, I. S. L., Min, B. C. W., Jamuar, S. S., Tibrewal, S., Wallang, B., Ganesh, S., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Prabodha, L. B. L., Richieri-Costa, A., Muthukumarasamy, P., Thong, M. K., Jones, K. L., Abdul-Rahman, O. A., Ekure, E. N., Adeyemo, A. A., Summar, M., Linguraru, M. G. & Muenke, M., 01-01-2017, In : American Journal of Medical Genetics, Part A. 173, 1, p. 42-53 12 p.

Research output: Contribution to journalArticle

Down Syndrome
Population
Technology
Craniosynostoses
Lacrimal Apparatus
2016
48 Citations (Scopus)

Cortical-bone fragility - Insights from sFRP4 deficiency in Pyle's disease

Kiper, P. O. S., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K., Kiviranta, R., Solban, N., Liu, J., Brommage, R., Boduroglu, K., Bonafé, L., Campos-Xavier, B., Dikoglu, E., Eastell, R., Gossiel, F., Harshman, K., Nishimura, G., Girisha, K. M., Stevenson, B. J. & 4 others, Takita, H., Rivolta, C., Superti-Furga, A. & Baron, R., 30-06-2016, In : New England Journal of Medicine. 374, 26, p. 2553-2562 10 p.

Research output: Contribution to journalArticle

Bone Morphogenetic Proteins
Inborn Genetic Diseases
Bone and Bones
Homeostasis
Exome
2018
1 Citation (Scopus)

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

Cannaerts, E., Shukla, A., Hasanhodzic, M., Alaerts, M., Schepers, D., Van Laer, L., Girisha, K. M., Hojsak, I., Loeys, B. & Verstraeten, A., 08-08-2018, In : BMC Medical Genetics. 19, 1, 140.

Research output: Contribution to journalArticle

Filamins
Connective Tissue
Mutation
Joint Instability
Mitral Valve Prolapse
2019
5 Citations (Scopus)

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

Girisha, K. M., von Elsner, L., Neethukrishna, K., Muranjan, M., Shukla, A., Bhavani, G. S. L., Nishimura, G., Kutsche, K. & Mortier, G., 01-01-2019, In : Human Mutation.

Research output: Contribution to journalArticle

Epiphyses
Exome
Ethanolamine
Mitochondrial Membranes
Cell Survival
2018
2 Citations (Scopus)

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

Moirangthem, A., Narayanan, D. L., Jacob, P., Nishimura, G., Mortier, G. & Girisha, K. M., 01-11-2018, In : Clinical Genetics. 94, 5, p. 457-460 4 p.

Research output: Contribution to journalArticle

Parathyroid Hormone Receptor Type 1
Osteogenesis
Epiphyses
Pubic Symphysis
Hand Bones
2019
1 Citation (Scopus)

Development, behaviour and autism in individuals with SMC1A variants

SMC1A Consortium, 01-03-2019, In : Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Autistic Disorder
Self-Injurious Behavior
Phenotype
Cognition
2016
84 Citations (Scopus)

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Rahim, S. A., Alkuraya, F. S., Casanova, J. L., Gleeson, J. G., Abdou, M., Abhytankar, A., Adimi, P., Ahmad, J., Akcakus, M. & 31 others, Aksu, G., Al Hajjar, S., Al Juamaah, S., Al Muhsen, S., Al Sannaa, N., Al Tameni, S., Al-Aama, J., Al-Allawi, N., Al-Baradie, R., Al-Gazali, L., Al-Hashem, A., Al-Herz, W., Al-Jeaid, D., Al-Tawari, A., Alangari, A., Alcais, A., AlFawaz, T. S., Alsum, Z., Ammar-Khodja, A., Amouian, S., Arikan, C., Aryani, O., Aslanger, A., Aydogmus, C., Aytekin, C., Azam, M., Bansagi, B., Barbouche, M. R., Bastaki, L., Girisha, K. M. & Greater Middle East Variome Consortium, 01-09-2016, In : Nature Genetics. 48, 9, p. 1071-1079 9 p.

Research output: Contribution to journalLetter

Genetic Association Studies
Middle East
Population
Consanguinity
Human Migration
2014
18 Citations (Scopus)

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Bidchol, A. M., Dalal, A., Shah, H., S, S., Nampoothiri, S., Kabra, M., Gupta, N., Danda, S., Gowrishankar, K., Phadke, S. R., Kapoor, S., Kamate, M., Verma, I. C., Puri, R. D., Sankar, V. H., Devi, A. R. R., Patil, S. J., Ranganath, P., Jain, S. J. M. N., Agarwal, M. & 7 others, Singh, A., Mishra, P., Tamhankar, P. M., Gopinath, P. M., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 01-11-2014, In : American Journal of Medical Genetics, Part A. 164, 11, p. 2793-2801 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Mucopolysaccharidosis IV
Mutation
Exons
N-acetylglucosamine-6-sulfatase
2012
3 Citations (Scopus)

Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type

Girisha, K. M., Shrikiran, A., Bidchol, A. M., Sakamoto, O., Gopinath, P. M. & Satyamoorthy, K., 09-2012, In : Indian Journal of Human Genetics. 18, 3, p. 346-348 3 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Therapeutics
Methylmalonic aciduria cblA type
Methylmalonic acidemia
2018
6 Citations (Scopus)

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

Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 01-05-2018, In : European Journal of Human Genetics. 26, 5, p. 695-708 14 p.

Research output: Contribution to journalArticle

Microcephaly
Protein Isoforms
Pons
Paraplegia
Mesencephalon
2015
23 Citations (Scopus)

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

Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., Mortier, G. R., Titheradge, H., Brueton, L., Starr, L., Stark, Z., Ockeloen, C., Lourenco, C. M., Blair, E. & 9 others, Hobson, E., Hurst, J., Maystadt, I., Destrée, A., Girisha, K. M., Miller, M., Dietz, H. C., Loeys, B. & Van Laer, L., 20-02-2015, In : European Journal of Human Genetics. 23, 2, p. 224-228 5 p.

Research output: Contribution to journalArticle

Mutation
Loeys-Dietz Syndrome
Oncogene Proteins
Missense Mutation
Intellectual Disability
2018
3 Citations (Scopus)

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

Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V. & Girisha, K. M., 01-07-2018, In : Clinical Genetics. 94, 1, p. 159-164 6 p.

Research output: Contribution to journalArticle

Tarsal Bones
Carpal Bones
Osteochondrodysplasias
Thoracic Vertebrae
Wrist
2019
2 Citations (Scopus)

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

Somashekar, P. H., Girisha, K. M., Nampoothiri, S., Gowrishankar, K., Devi, R. R., Gupta, N., Narayanan, D. L., Kaur, A., Bajaj, S., Jagadeesh, S., Lewis, L. E. S., Shailaja, S. & Shukla, A., 01-01-2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Hearing Loss
Albinism
Exome
Mosaicism
2017
17 Citations (Scopus)

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

Shukla, A., Hebbar, M., Srivastava, A., Kadavigere, R., Upadhyai, P., Kanthi, A., Brandau, O., Bielas, S. & Girisha, K. M., 01-07-2017, In : Journal of Human Genetics. 62, 7, p. 723-727 5 p.

Research output: Contribution to journalArticle

Founder Effect
Exome
Biological Phenomena
Lactic Acidosis
Protein Stability
2016

Unusual skin manifestations in a patient with menkes disease

Gupta, D., Rao, R., Girisha, K. M., Stephen, J. & Phadke, S. R., 01-11-2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 3039-3040 2 p.

Research output: Contribution to journalLetter

2017
1 Citation (Scopus)

Corrigendum to: Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients with Acid Sphingomyelinase Deficient Niemann–Pick Disease (Am J Med Genet A., (2016), 170A, 10, 2719-2730, 10.1002/ajmg.a.37817)

Ranganath, P., Matta, D., Bhavani, G. S. L., Wangnekar, S., Jain, J. M. N., Verma, I. C., Kabra, M., Puri, R. D., Danda, S., Gupta, N., Girisha, K. M., Sankar, V. H., Patil, S. J., Devi, A. R. R., Bhat, M., Gowrishankar, K., Mandal, K., Aggarwal, S., Tamhankar, P. M., Tilak, P. & 2 others, Phadke, S. R. & Dalal, A., 01-03-2017, In : American Journal of Medical Genetics, Part A. 173, 3, 1 p.

Research output: Contribution to journalComment/debate

Viverridae
Sphingomyelin Phosphodiesterase
Mutation
Acids
Genes
13 Citations (Scopus)

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

Kubaski, F., Suzuki, Y., Orii, K., Giugliani, R., Church, H. J., Mason, R. W., Dũng, V. C., Ngoc, C. T. B., Yamaguchi, S., Kobayashi, H., Girisha, K. M., Fukao, T., Orii, T. & Tomatsu, S., 01-03-2017, In : Molecular Genetics and Metabolism. 120, 3, p. 247-254 8 p.

Research output: Contribution to journalArticle

Mucolipidoses
Mucopolysaccharidoses
Glycosaminoglycans
Mucopolysaccharidosis I
Mucopolysaccharidosis II
2016

What does fetal autopsy unmask in oligohydramnios?

Nayak, S. S., Shukla, A., Kodandapani, S., Adiga, P. K. & Girisha, K. M., 17-07-2016, In : Journal of Maternal-Fetal and Neonatal Medicine. 29, 14, p. 2347-2351 5 p.

Research output: Contribution to journalArticle

Oligohydramnios
Autopsy
Fetus
Amniotic Fluid
Fetal Growth Retardation

Editorial

Rai, S. & Girisha, K. M., 01-02-2016, In : Indian Pediatrics. 53, 2, p. 115-117 3 p.

Research output: Contribution to journalEditorial

2015
3 Citations (Scopus)

Familial 7q11.23 duplication with variable phenotype

Patil, S. J., Salian, S., Bhat, V., Girisha, K. M., Shrivastava, Y., Kiran, V. S. & Sapare, A., 01-11-2015, In : American Journal of Medical Genetics, Part A. 167, 11, p. 2727-2730 4 p.

Research output: Contribution to journalArticle

Megalencephaly
Phenotype
Intellectual Disability
Brain
Paternal Inheritance

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

Gupta, A., Uttarilli, A., Dalal, A. & Girisha, K. M., 14-05-2015, In : BMJ Case Reports. 2015, 209305.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Dysostoses
Dermatan Sulfate
Hoarseness
Heparitin Sulfate