Find Research Outputs

Search concepts
Selected filters

Publication Year

  • 2020
  • 2019
  • 2018
  • 2017
  • 2016
  • 2015
  • 2014
  • 2013
  • 2012
  • 2011

Author

  • Girisha M Katta
2016
4 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

7 Citations (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)
2019

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

Narayanan, D. L., Shukla, A., Kausthubham, N., Bhavani, G. S., Shah, H., Mortier, G. & Girisha, K. M., 01-01-2019, In : American Journal of Medical Genetics, Part A. 179, 9, p. 1709-1717 9 p.

Research output: Contribution to journalArticle

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)

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)
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)
2019

LACC1 gene mutation in three sisters with polyarthritis without systemic features

Singh, A., Suri, D., Vignesh, P., Anjani, G., Jacob, P. & Girisha, K. M., 01-01-2019, (Accepted/In press) In : Annals of the Rheumatic Diseases. 216263.

Research output: Contribution to journalLetter

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)
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

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)
2016

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

1 Citation (Scopus)
2015

Alobar holoprosencephaly, cleft LIP/palate, urorectal septum malformation sequence and congenital perineal hernia in a fetus

Girisha, K. M., Nayak, S. S., Shukla, A. & Bhat, S. K., 2015, In : Genetic Counseling. 26, 3, p. 321-325 5 p.

Research output: Contribution to journalArticle

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

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

Shukla, A., Hebbar, M., Harms, F. L., Kadavigere, R., Girisha, K. M. & Kutsche, K., 01-11-2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 2998-3003 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2011

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

4 Citations (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

2 Citations (Scopus)
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

2 Citations (Scopus)
2019

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

Shukla, A., Girisha, K. M., Somashekar, P. H., Nampoothiri, S., McClellan, R. & Vernon, H. J., 01-05-2019, In : American Journal of Medical Genetics, Part A. 179, 5, p. 870-874 5 p.

Research output: Contribution to journalArticle

2014

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)
2019

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

Girisha, K. M., Bhavani, G. S., Shah, H., Moirangthem, A., Shukla, A., Kim, O. H., Nishimura, G. & Mortier, G. R., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2020

Spastic Paraplegia Type 56 in a Young Child

Samaddar, S., Kaur, P., Rajagopal, K. V., Girisha, K. M., Shukla, A. & Sharma, S., 01-01-2020, (Accepted/In press) In : Indian Journal of Pediatrics.

Research output: Contribution to journalLetter

2019
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)
2016

Erratum: Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis (American Journal of Human Genetics (2016) 99(5) (1206–1216) (S0002929716304001) (10.1016/j.ajhg.2016.09.019))

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., 01-12-2016, In : American Journal of Human Genetics. 99, 6, p. 1406-1408 3 p.

Research output: Contribution to journalComment/debate

11 Citations (Scopus)
2019

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)
2017

Noonan syndrome in diverse populations

Kruszka, P., Porras, A. R., Addissie, Y. A., Moresco, A., Medrano, S., Mok, G. T. K., Leung, G. K. C., Tekendo-Ngongang, C., Uwineza, A., Thong, M. K., Muthukumarasamy, P., Honey, E., Ekure, E. N., Sokunbi, O. J., Kalu, N., Jones, K. L., Kaplan, J. D., Abdul-Rahman, O. A., Vincent, L. M., Love, A. & 42 others, Belhassan, K., Ouldim, K., El Bouchikhi, I., Shukla, A., Girisha, K. M., Patil, S. J., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Mishra, R., Klein-Zighelboim, E., Gallardo Jugo, B. E., Chávez Pastor, M., Abarca-Barriga, H. H., Skinner, S. A., Prijoles, E. J., Badoe, E., Gill, A. D., Shotelersuk, V., Smpokou, P., Kisling, M. S., Ferreira, C. R., Mutesa, L., Megarbane, A., Kline, A. D., Kimball, A., Okello, E., Lwabi, P., Aliku, T., Tenywa, E., Boonchooduang, N., Tanpaiboon, P., Richieri-Costa, A., Wonkam, A., Chung, B. H. Y., Stevenson, R. E., Summar, M., Mandal, K., Phadke, S. R., Obregon, M. G., Linguraru, M. G. & Muenke, M., 01-09-2017, In : American Journal of Medical Genetics, Part A. 173, 9, p. 2323-2334 12 p.

Research output: Contribution to journalArticle

27 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

14 Citations (Scopus)
2015

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

1 Citation (Scopus)
2014

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)
2018

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

Galada, C., Hebbar, M., Lewis, L., Soans, S., Kadavigere, R., Srivastava, A., Bielas, S., Girisha, K. M. & Shukla, A., 01-09-2018, In : Congenital Anomalies. 58, 5, p. 181-182 2 p.

Research output: Contribution to journalArticle

8 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

2016

Estimation of correlation between various types of pixel intensities in a single spot

Karun, K. M., Binu, V. S., Sreekumaran Nair, N., Manjunatha Prasad, K., Karun, K. M., Prasad, K. & Girisha, K. M., 2016, In : Electronic Journal of Applied Statistical Analysis. 9, 1, p. 58-67 10 p.

Research output: Contribution to journalArticle

2019

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

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)
2012

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

Shah, H., Bens, S., Caliebe, A., Graham, J. M. & Girisha, K. M., 11-2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2941-2945 5 p.

Research output: Contribution to journalArticle

2 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

1 Citation (Scopus)
2017

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

14 Citations (Scopus)
2012
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

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
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

163 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

5 Citations (Scopus)
2018
7 Citations (Scopus)

Genomic and phenotypic delineation of congenital microcephaly

Shaheen, R., Maddirevula, S., Ewida, N., Alsahli, S., Abdel-Salam, G. M. H., Zaki, M. S., Tala, S. A., Alhashem, A., Softah, A., Al-Owain, M., Alazami, A. M., Abadel, B., Patel, N., Al-Sheddi, T., Alomar, R., Alobeid, E., Ibrahim, N., Hashem, M., Abdulwahab, F., Hamad, M. & 27 others, Tabarki, B., Alwadei, A. H., Alhazzani, F., Bashiri, F. A., Kentab, A., Şahintürk, S., Sherr, E., Fregeau, B., Sogati, S., Alshahwan, S. A. M., Alkhalifi, S., Alhumaidi, Z., Temtamy, S., Aglan, M., Otaify, G., Girisha, K. M., Tulbah, M., Seidahmed, M. Z., Salih, M. A., Abouelhoda, M., Momin, A. A., Saffar, M. A., Partlow, J. N., Arold, S. T., Faqeih, E., Walsh, C. & Alkuraya, F. S., 01-01-2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

13 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)
2019

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Somashekar, P. H., Upadhyai, P., Shula, A. & Girisha, K. M., 01-01-2019, (Accepted/In press) In : Gene. 144229.

Research output: Contribution to journalArticle

2013

Prenatal diagnosis of absent pulmonary valve confirmed by autopsy

Vivek, G., Shetty, R. K., Nayak, S. S., Girisha, K. M. & Naha, K., 2013, In : BMJ Case Reports. 007997.

Research output: Contribution to journalArticle

1 Citation (Scopus)