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  • 2020
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Author

  • Anju Shukla
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)
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

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)
2020

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

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

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

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

2016

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)

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)
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)
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)
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)
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

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)

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

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)
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)

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

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)
2020
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)

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

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)

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)
2020

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., 01-06-2020, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2019
2020
2017

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)
2019

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

3 Citations (Scopus)

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)
2017

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2

Somashekar, P. H., Shukla, A. & Girisha, K. M., 08-04-2017, (Accepted/In press) In : Ophthalmic Genetics. p. 1-4 4 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

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)
2016

What does fetal autopsy unmask in oligohydramnios?

Nayak, S. S., Shukla, A., Kodandapani, S., Adiga, P. K. & Girisha, K. M., 17-07-2016, In : Journal of Maternal-Fetal and Neonatal Medicine. 29, 14, p. 2347-2351 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2020

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

University of Washington Center for Mendelian Genomics, 06-08-2020, In : American Journal of Human Genetics. 107, 2, p. 293-310 18 p.

Research output: Contribution to journalArticle

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)
2019

Meckel syndrome: Clinical and mutation profile in six fetuses

Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A. & Girisha, K. M., 01-12-2019, In : Clinical Genetics.

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

2 Citations (Scopus)
2018

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

19 Citations (Scopus)
2019

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

11 Citations (Scopus)
2018

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

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)