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  • Girisha M Katta
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

Mistri, M., Mehta, S., Solanki, D., Kamate, M., Gupta, N., Kabra, M., Puri, R., Girisha, K., Hariharan, S., Nampoothiri, S., Sheth, F. & Sheth, J., 01-10-2019, In : Journal of Human Genetics. 64, 10, p. 985-994 10 p.

Research output: Contribution to journalArticle

2016

Hunting for Mutations in Indian Patients with Hunter Syndrome

Girisha, K. M., 01-02-2016, In : Indian Pediatrics. 53, 2, 1 p.

Research output: Contribution to journalComment/debate

2020

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

Pasumarthi, D., Gupta, N., Sheth, J., Jain, S. J. M. N., Rungsung, I., Kabra, M., Ranganath, P., Aggarwal, S., Phadke, S. R., Girisha, K. M., Shukla, A., Datar, C., Verma, I. C., Puri, R. D., Bhavsar, R., Mistry, M., Sankar, V. H., Gowrishankar, K., Agrawal, D., Nair, M. & 3 others, Danda, S., Soni, J. P. & Dalal, A., 2020, (Accepted/In press) In : Journal of Human Genetics.

Research output: Contribution to journalArticle

2018

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

3 Citations (Scopus)
2017

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

Chaudhary, A. K., Mohapatra, R., Nagarajaram, H. A., Ranganath, P., Dalal, A., Dutta, A., Danda, S., Girisha, K. M. & Bashyam, M. D., 01-01-2017, In : Journal of the European Academy of Dermatology and Venereology. 31, 1, p. e17-e20

Research output: Contribution to journalLetter

3 Citations (Scopus)
2020

Explanation for mild and severe osteogenesis imperfecta phenotypes due to splice variants at c.2029-1 in COL1A1

Radhakrishnan, P., Somashekar, P. H. & Girisha, K. M., 12-2020, In : Gene Reports. 21, 100803.

Research output: Contribution to journalArticle

2019

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

Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M. & Shukla, A., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2017

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

21 Citations (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

2 Citations (Scopus)
2019

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

4 Citations (Scopus)
2020

Trichothiodystrophy type 4 in an Indian family

Pande, S., Shukla, A. & Girisha, K. M., 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2018

Facial profile and additional features in fetuses with trisomy 21

Radhakrishnan, P., Nayak, S. S., Shukla, A. & Girisha, K. M., 01-10-2018, In : Clinical Dysmorphology. 27, 4, p. 126-129 4 p.

Research output: Contribution to journalArticle

2016
2020

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

Radhakrishnan, P., Jacob, P., Nayak, S. S., Gowrishankar, K., Prakash Soni, J., Shukla, A. & Girisha, K. M., 01-07-2020, In : Clinical Dysmorphology. 29, 3, p. 123-126 4 p.

Research output: Contribution to journalArticle

Bosley–Salih–Alorainy syndrome in patients from India

Patil, S. J., Karthik, G. A., Bhavani, G. S. L., Bhat, V., Matalia, J., Shah, J., Shukla, A. & Girisha, K. M., 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2018

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

Hebbar, M., Kanthi, A., Shukla, A., Bielas, S. & Girisha, K. M., 01-07-2018, In : Journal of Human Genetics. 63, 8, p. 935-939 5 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2018

A review of skeletal dysplasia research in India

Uttarilli, A., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2018, In : Journal of Postgraduate Medicine. 64, 2, p. 98-103 6 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)
2016

Spectrum of urorectal septum malformation sequence

Shah, K., Nayak, S. S., Shukla, A. & Girisha, K. M., 01-05-2016, In : Congenital Anomalies. 56, 3, p. 119-126 8 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

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

Delle Vedove, A., Storbeck, M., Heller, R., Hölker, I., Hebbar, M., Shukla, A., Magnusson, O., Cirak, S., Girisha, K. M., O'Driscoll, M., Loeys, B. & Wirth, B., 03-11-2016, In : American Journal of Human Genetics. 99, 5, p. 1206-1216 11 p.

Research output: Contribution to journalArticle

24 Citations (Scopus)

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Bhavani, G. S., Shah, H., Shukla, A., Gupta, N., Gowrishankar, K., Rao, A. P., Kabra, M., Agarwal, M., Ranganath, P., Ekbote, A. V., Phadke, S. R., Kamath, A., Dalal, A. & Girisha, K. M., 01-02-2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 410-417 8 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
2019

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

Rai, M. K., Pai, R., Prabhu, M. A., Pasha, S. W., Kedambadi, R. C., Kamath, P., Augustine, A. J., Bhavani, G. S. L. & Girisha, K. M., 01-02-2019, In : PACE - Pacing and Clinical Electrophysiology. 42, 2, p. 201-207 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2017

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

Hebbar, M., Chandra, T., Shukla, A., Kadavigere, R. & Girisha, K. M., 01-04-2017, In : Indian Journal of Pediatrics. 84, 4, p. 330-331 2 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)
2019

Cornelia de Lange syndrome in diverse populations

Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P. & 45 others, Uwineza, A., Mutesa, L., Tekendo-Ngongang, C., Wonkam, A., Fieggen, K., Batista, L. C., Moretti-Ferreira, D., Stevenson, R. E., Prijoles, E. J., Everman, D., Clarkson, K., Worthington, J., Kimonis, V., Hisama, F., Crowe, C., Wong, P., Johnson, K., Clark, R. D., Bird, L., Masser-Frye, D., McDonald, M., Willems, P., Roeder, E., Saitta, S., Anyane-Yeoba, K., Demmer, L., Hamajima, N., Stark, Z., Gillies, G., Hudgins, L., Dave, U., Shalev, S., Siu, V., Ades, A., Dubbs, H., Raible, S., Kaur, M., Salzano, E., Jackson, L., Deardorff, M., Kline, A., Summar, M., Muenke, M., Linguraru, M. G. & Krantz, I. D., 01-02-2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
2017

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

7 Citations (Scopus)
2016

Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism

Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C. P., Jansen, L. A., Menon, S., Timms, A. E., Conti, V., Biag, J. D., Olds, C., Boyle, E. A., Collins, S., Ishak, G., Poliachik, S. L., Girisha, K. M., Yeung, K. S., Chung, B. H. Y., Rahikkala, E., Gunter, S. A., McDaniel, S. S. & 25 others, Macmurdo, C. F., Bernstein, J. A., Martin, B., Leary, R. J., Mahan, S., Liu, S., Weaver, M., Dorschner, M. O., Jhangiani, S., Muzny, D. M., Boerwinkle, E., Gibbs, R. A., Lupski, J. R., Shendure, J., Saneto, R. P., Novotny, E. J., Wilson, C. J., Sellers, W. R., Morrissey, M. P., Hevner, R. F., Ojemann, J. G., Guerrini, R., Murphy, L. O., Winckler, W. & Dobyns, W. B., 01-07-2016, In : JAMA Neurology. 73, 7, p. 836-845 10 p.

Research output: Contribution to journalArticle

103 Citations (Scopus)
2019

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

Sekiguchi, F., Tsurusaki, Y., Okamoto, N., Teik, K. W., Mizuno, S., Suzumura, H., Isidor, B., Ong, W. P., Haniffa, M., White, S. M., Matsuo, M., Saito, K., Phadke, S., Kosho, T., Yap, P., Goyal, M., Clarke, L. A., Sachdev, R., McGillivray, G., Leventer, R. J. & 59 others, Patel, C., Yamagata, T., Osaka, H., Hisaeda, Y., Ohashi, H., Shimizu, K., Nagasaki, K., Hamada, J., Dateki, S., Sato, T., Chinen, Y., Awaya, T., Kato, T., Iwanaga, K., Kawai, M., Matsuoka, T., Shimoji, Y., Tan, T. Y., Kapoor, S., Gregersen, N., Rossi, M., Marie-Laure, M., McGregor, L., Oishi, K., Mehta, L., Gillies, G., Lockhart, P. J., Pope, K., Shukla, A., Girisha, K. M., Abdel-Salam, G. M. H., Mowat, D., Coman, D., Kim, O. H., Cordier, M. P., Gibson, K., Milunsky, J., Liebelt, J., Cox, H., El Chehadeh, S., Toutain, A., Saida, K., Aoi, H., Minase, G., Tsuchida, N., Iwama, K., Uchiyama, Y., Suzuki, T., Hamanaka, K., Azuma, Y., Fujita, A., Imagawa, E., Koshimizu, E., Takata, A., Mitsuhashi, S., Miyatake, S., Mizuguchi, T., Miyake, N. & Matsumoto, N., 01-12-2019, In : Journal of Human Genetics. 64, 12, p. 1173-1186 14 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2017

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

30 Citations (Scopus)
2016

Congenital omphalocele and cleft palate in two fetuses

Upadhyay, N., Pai, M. V., Nayak, S. S., Girisha, K. M. & Shukla, A., 01-07-2016, In : Congenital Anomalies. 56, 4, p. 190-191 2 p.

Research output: Contribution to journalComment/debate

2017

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

Harms, F. L., Girisha, K. M., Hardigan, A. A., Kortüm, F., Shukla, A., Alawi, M., Dalal, A., Brady, L., Tarnopolsky, M., Bird, L. M., Ceulemans, S., Bebin, M., Bowling, K. M., Hiatt, S. M., Lose, E. J., Primiano, M., Chung, W. K., Juusola, J., Akdemir, Z. C., Bainbridge, M. & 13 others, Charng, W. L., Drummond-Borg, M., Eldomery, M. K., El-Hattab, A. W., Saleh, M. A. M., Bézieau, S., Cogné, B., Isidor, B., Küry, S., Lupski, J. R., Myers, R. M., Cooper, G. M. & Kutsche, K., 05-01-2017, In : American Journal of Human Genetics. 100, 1, p. 117-127 11 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)
2016

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

Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Gomez, M. L., Becerra, J. C. A., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J. & 14 others, Renner, E. D., Rosenzweig, S., Grimbacher, B., Van De Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. L. & Puel, A., 23-06-2016, In : Blood. 127, 25, p. 3154-3164 11 p.

Research output: Contribution to journalArticle

183 Citations (Scopus)
2018

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

Undiagnosed Diseases Network members, 06-12-2018, In : American Journal of Human Genetics. 103, 6, p. 948-967 20 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2016

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

Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R. & Rolfs, A., 01-12-2016, In : Clinical Genetics. 90, 6, p. 536-539 4 p.

Research output: Contribution to journalArticle

43 Citations (Scopus)
2017

A novel sequence variant in SFRP4 causing Pyle disease

Galada, C., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2017, In : Journal of Human Genetics. 62, 5, p. 575-576 2 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)
2016

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

Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. L. & Kutsche, K., 01-08-2016, In : European Journal of Human Genetics. 24, 8, p. 1206-1210 5 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)
2018

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

8 Citations (Scopus)
2016
4 Citations (Scopus)
2020
2019

The third family with Eiken syndrome

Jacob, P., Soni, J. P., Mortier, G. & Girisha, K. M., 01-10-2019, In : Clinical Genetics. 96, 4, p. 378-379 2 p.

Research output: Contribution to journalLetter

2016

Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Rao, S. S., Shenoy, R. D., Salian, S. & Girisha, K. M., 01-11-2016, In : Indian Journal of Dermatology. 61, 6, 1 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2019

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

1 Citation (Scopus)
2016

Editorial

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

Research output: Contribution to journalEditorial

2020

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

Narayanan, D. L. & Girisha, K. M., 15-06-2020, In : Indian Pediatrics. 57, 6, p. 549-554 6 p.

Research output: Contribution to journalArticle

2019

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

3 Citations (Scopus)

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

Kaur, P., Mishra, S., Rajesh, S. M., Girisha, K. M. & Shukla, A., 01-10-2019, In : Clinical Dysmorphology. 28, 4, p. 190-194 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

Hebbar, M., Shukla, A., Nampoothiri, S., Bielas, S. & Girisha, K. M., 01-01-2019, In : Journal of Human Genetics. 64, 1, p. 17-21 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2020

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

Upadhyai, P., Amiri, E. F., Guleria, V. S., Bielas, S. L., Girisha, K. M. & Shukla, A., 01-07-2020, In : Clinical Dysmorphology. 29, 3, p. 127-131 5 p.

Research output: Contribution to journalArticle

2017

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

1 Citation (Scopus)
2018

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

3 Citations (Scopus)