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  • Anju Shukla
2020

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

Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-04-2020, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

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., 01-02-2020, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

Narayanan, D. L., Purushothama, G., Bhavani, G. S. L. & Shukla, A., 01-01-2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

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

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Somashekar, P. H., Upadhyai, P., Shula, A. & Girisha, K. M., 01-03-2020, In : Gene. 144229.

Research output: Contribution to journalArticle

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

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

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

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)

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

1 Citation (Scopus)

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

8 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

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

2 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)

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

2 Citations (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)

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

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Van Bergen, N. J., Guo, Y., Rankin, J., Paczia, N., Becker-Kettern, J., Kremer, L. S., Pyle, A., Conrotte, J. F., Ellaway, C., Procopis, P., Prelog, K., Homfray, T., Baptista, J., Baple, E., Wakeling, M., Massey, S., Kay, D. P., Shukla, A., Girisha, K. M., Lewis, L. E. S. & 15 others, Santra, S., Power, R., Daubeney, P., Montoya, J., Ruiz-Pesini, E., Kovacs-Nagy, R., Pritsch, M., Ahting, U., Thorburn, D. R., Prokisch, H., Taylor, R. W., Christodoulou, J., Linster, C. L., Ellard, S. & Hakonarson, H., 01-01-2019, In : Brain : a journal of neurology. 142, 1, p. 50-58 9 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

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

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

Uttarilli, A., Shah, H., Bhavani, G. S. L., Upadhyai, P., Shukla, A. & Girisha, K. M., 01-03-2019, In : Bone. 120, p. 204-211 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Baylor-Hopkins Center for Mendelian Genomics, 03-07-2019, In : American Journal of Human Genetics. 105, 1, p. 132-150 19 p.

Research output: Contribution to journalArticle

7 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

8 Citations (Scopus)

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

1 Citation (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)
1 Citation (Scopus)

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)
3 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

2 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

8 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

10 Citations (Scopus)

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)

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)

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)
8 Citations (Scopus)

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome

Hebbar, M., Kanthi, A., Shrikiran, A., Patil, S., Muranjan, M., Francis, F., Bhat B, V., Girisha, K. M. & Shukla, A., 01-01-2018, In : American Journal of Medical Genetics, Part A. 176, 1, p. 156-160 5 p.

Research output: Contribution to journalArticle

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)

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

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., 24-05-2018, In : Nature. 557, 7706, p. 564-569 6 p.

Research output: Contribution to journalArticle

31 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

3 Citations (Scopus)

Williams–Beuren syndrome in diverse populations

Kruszka, P., Porras, A. R., de Souza, D. H., Moresco, A., Huckstadt, V., Gill, A. D., Boyle, A. P., Hu, T., Addissie, Y. A., Mok, G. T. K., Tekendo-Ngongang, C., Fieggen, K., Prijoles, E. J., Tanpaiboon, P., Honey, E., Luk, H. M., Lo, I. F. M., Thong, M. K., Muthukumarasamy, P., Jones, K. L. & 30 others, Belhassan, K., Ouldim, K., El Bouchikhi, I., Bouguenouch, L., Shukla, A., Girisha, K. M., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Mishra, R., Kisling, M. S., Ferreira, C. R., de Herreros, M. B., Lee, N. C., Jamuar, S. S., Lai, A., Tan, E. S., Ying Lim, J., Wen-Min, C. B., Gupta, N., Lotz-Esquivel, S., Badilla-Porras, R., Hussen, D. F., El Ruby, M. O., Ashaat, E. A., Patil, S. J., Dowsett, L., Eaton, A., Innes, A. M. & Shotelersuk, V., 01-05-2018, In : American Journal of Medical Genetics, Part A. 176, 5, p. 1128-1136 9 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2017

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 novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in Mitochondrial acetoacetyl-CoA thiolase gene

Aoyama, Y., Sasai, H., Abdelkreem, E., Otsuka, H., Nakama, M., Kumar, S., Aroor, S., Shukla, A. & Fukao, T., 01-06-2017, In : Molecular Medicine Reports. 15, 6, p. 3879-3884 6 p.

Research output: Contribution to journalArticle

4 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)