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  • Girisha M Katta
Article

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)

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations

Salian, S., Cho, T. J., Phadke, S. R., Gowrishankar, K., Bhavani, G. S. L., Shukla, A., Jagadeesh, S., Kim, O. H., Nishimura, G. & Girisha, K. M., 01-03-2017, In : American Journal of Medical Genetics, Part A. 173, 3, p. 588-595 8 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

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

41 Citations (Scopus)

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

1 Citation (Scopus)
4 Citations (Scopus)

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

9 Citations (Scopus)

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)

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

100 Citations (Scopus)

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

Shukla, A., Upadhyai, P., Shah, J., Neethukrishna, K., Bielas, S. & Girisha, K. M., 01-02-2017, In : European Journal of Medical Genetics. 60, 2, p. 118-123 6 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

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)

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)

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

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

22 Citations (Scopus)

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)

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

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)

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)

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)

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

Kaur, P., Wamelink, M. M. C., van der Knaap, M. S., Girisha, K. M. & Shukla, A., 01-08-2019, In : European Journal of Medical Genetics. 62, 8, 103708.

Research output: Contribution to journalArticle

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

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

5 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

51 Citations (Scopus)

Cover Image, Volume 173A, Number 3, March 2017

Salian, S., Cho, T. J., Phadke, S. R., Gowrishankar, K., Bhavani, G. S. L., Shukla, A., Jagadeesh, S., Kim, O. H., Nishimura, G. & Girisha, K. M., 01-03-2017, In : American journal of medical genetics. Part A. 173, 3, p. i

Research output: Contribution to journalArticle

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

2 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

8 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

24 Citations (Scopus)

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

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

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)

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)

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)

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

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

3 Citations (Scopus)

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

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Srivastava, A., Srivastava, K. R., Hebbar, M., Galada, C., Kadavigrere, R., Su, F., Cao, X., Chinnaiyan, A. M., Girisha, K. M., Shukla, A. & Bielas, S. L., 01-11-2018, In : European Journal of Human Genetics. 26, 11, p. 1582-1587 6 p.

Research output: Contribution to journalArticle

1 Citation (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)

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

20 Citations (Scopus)

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

164 Citations (Scopus)
7 Citations (Scopus)

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia

Hebbar, M., Girisha, K. M., Srivastava, A., Bielas, S. & Shukla, A., 01-10-2017, In : European Journal of Medical Genetics. 60, 10, p. 533-535 3 p.

Research output: Contribution to journalArticle

1 Citation (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

21 Citations (Scopus)

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

Kaur, P., Bhavani, G. S. L., Raj, A., Girisha, K. M. & Shukla, A., 01-12-2019, In : Journal of Human Genetics. 64, 12, p. 1237-1242 6 p.

Research output: Contribution to journalArticle

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

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Nampoothiri, S., Phadke, S. R., Park, M. J., Ikegawa, S., Wang, Z., Higgs, M. R. & 15 others, Stewart, G. S., Jung, E., Lee, M. S., Park, J. H., Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O. H., Choi, M., Lee, H. W., Kim, Y. & Cho, T. J., 07-03-2019, In : American Journal of Human Genetics. 104, 3, p. 439-453 15 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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)

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)

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)