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  • Girisha M Katta
2018

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

10 Citations (Scopus)
2019

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

9 Citations (Scopus)
2016

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

10 Citations (Scopus)
2015

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

23 Citations (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)
2014

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

19 Citations (Scopus)
2015

Prenatal diagnosis of intracranial tumors and the difficulties in prognostication: A report of three cases

Vasudeva, A., Amin, S. V., Kadavigere, R., Girisha, K. M. & Rai, L., 01-05-2015, In : International Journal of Infertility and Fetal Medicine. 6, 2, p. 88-91 4 p.

Research output: Contribution to journalArticle

Open Access
2017

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 others, Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 01-08-2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)
2010
2 Citations (Scopus)
2019

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

Radhakrishnan, P., Moirangthem, A., Nayak, S. S., Shukla, A., Mathew, M. & Girisha, K. M., 01-01-2019, In : Clinical Dysmorphology. 28, 1, p. 17-21 5 p.

Research output: Contribution to journalArticle

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

2012

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

Coutinho, M. F., Santos, L. D. S., Girisha, K. M., Satyamoorthy, K., Lacerda, L., Prata, M. J. & Alves, S., 05-2012, In : American Journal of Medical Genetics, Part A. 158 A, 5, p. 1225-1228 4 p.

Research output: Contribution to journalLetter

7 Citations (Scopus)
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)
2015
2 Citations (Scopus)
2017

Ichthyosis congenita with biliary atresia: A rare association

Aroor, S., Kumar, S., Mundkur, S. & Girisha, K. M., 2017, In : Clinical Dysmorphology. 26, 3, p. 179-180 2 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2014

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

Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R. & Kutsche, K., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 1035-1040 6 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

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

Girisha, K. M., Bidchol, A. M., Kamath, P. S., Shah, K. H., Mortier, G. R., Mundlos, S. & Shah, H., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 898-906 9 p.

Research output: Contribution to journalArticle

13 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

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

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)
2017

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

1 Citation (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

101 Citations (Scopus)
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

2 Citations (Scopus)
2016

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

5 Citations (Scopus)
2018
3 Citations (Scopus)
2010
8 Citations (Scopus)
2013

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

Dimopoulou, A., Fischer, B., Gardeitchik, T., Schröter, P., Kayserili, H., Schlack, C., Li, Y., Brum, J. M., Barisic, I., Castori, M., Spaich, C., Fletcher, E., Mahayri, Z., Bhat, M., Girisha, K. M., Lachlan, K., Johnson, D., Phadke, S., Gupta, N., Simandlova, M. & 11 others, Kabra, M., David, A., Nijtmans, L., Chitayat, D., Tuysuz, B., Brancati, F., Mundlos, S., Van Maldergem, L., Morava, E., Wollnik, B. & Kornak, U., 11-2013, In : Molecular Genetics and Metabolism. 110, 3, p. 352-361 10 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)
2017

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

Nayak, S. S., Salian, S., Shukla, A., Mathew, M. & Girisha, K. M., 01-05-2017, In : Congenital Anomalies. 57, 3, p. 83-85 3 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2015

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

3 Citations (Scopus)

Erratum to Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta [Am J Med Genet Part A, 164, 6, (2014), 1482-1489]

Stephen, J., Shukla, A., Dalal, A., Girisha, K. M., Shah, H., Gupta, N., Kabra, M., Dabadghao, P., Hasegawa, K., Tanaka, H. & Phadke, S. R., 01-11-2015, In : American Journal of Medical Genetics, Part A. 167, 11, p. 2868 1 p.

Research output: Contribution to journalComment/debate

1 Citation (Scopus)
2014

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

Stephen, J., Shukla, A., Dalal, A., Girisha, K. M., Shah, H., Gupta, N., Kabra, M., Dabadghao, P. & Phadke, S. R., 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1482-1489 8 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
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

2012

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

3 Citations (Scopus)
2017

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

Nakatsuka, N., Moorjani, P., Rai, N., Sarkar, B., Tandon, A., Patterson, N., Bhavani, G. S., Girisha, K. M., Mustak, M. S., Srinivasan, S., Kaushik, A., Vahab, S. A., Jagadeesh, S. M., Satyamoorthy, K., Singh, L., Reich, D. & Thangaraj, K., 01-09-2017, In : Nature Genetics. 49, 9, p. 1403-1407 5 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)
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

2014

CFTR mutations in India: Need to do more! GENETICIST'S PERSPECTIVE

Girisha, K. M., 2014, In : Indian Pediatrics. 51, 3, p. 177-178 2 p.

Research output: Contribution to journalEditorial

1 Citation (Scopus)
2015

White matter changes in GM1 gangliosidosis

Tuteja, M., Bidchol, A. M., Girisha, K. M. & Phadke, S. R., 2015, In : Indian Pediatrics. 52, 2, p. 155-156 2 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2018

Erratum to: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 (Nature, (2018), 557, 7706, (564-569), 10.1038/s41586-018-0118-y)

Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., de Sousa, S. B., Karaman, B., Latypova, X., Başaran, S., Yücel, E. B., Tan, T. T., Vlaminck, L., Nayak, S. S., Shukla, A., Girisha, K. M. & 7 others, Le Caignec, C., Soshnikova, N., Uyguner, Z. O., Vleminckx, K., Barker, N., Kayserili, H. & Reversade, B., 13-09-2018, In : Nature. 561, 7722, p. E7

Research output: Contribution to journalComment/debate

1 Citation (Scopus)
2012
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

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

42 Citations (Scopus)
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)
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

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

3 Citations (Scopus)
2016

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

16 Citations (Scopus)
2013

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

Bierhals, T., Maddukuri, S. B., Kutsche, K. & Girisha, K. M., 02-2013, In : American Journal of Medical Genetics, Part A. 161, 2, p. 352-359 8 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)
2016

Metatropic dysplasia with a novel mutation in TRPV4

Narayanan, D. L., Bhavani, G. S. L., Girisha, K. M. & Phadke, S. R., 01-08-2016, In : Indian Pediatrics. 53, 8, p. 735-737 3 p.

Research output: Contribution to journalArticle

2019

Meckel syndrome: Clinical and mutation profile in six fetuses

Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A. & Girisha, K. M., 01-01-2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2015

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

1 Citation (Scopus)