Find Research Outputs

Search in all content

Filters for Research Output

Search concepts
Selected filters

Publication Year

  • 2020
  • 2019
  • 2018
  • 2017
  • 2016

Author

  • Anju Shukla
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)
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

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

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
3 Citations (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

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)
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)

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)
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)
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

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

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)

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., 01-01-2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

1 Citation (Scopus)
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)
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

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

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)

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)

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)
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

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)
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

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

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)

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)
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

15 Citations (Scopus)
2020
2016

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)
2020

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

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

2019

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)
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)
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

1 Citation (Scopus)
2017

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

Kotabagi, S., Shah, H., Shukla, A. & Girisha, K. M., 01-09-2017, In : Clinical Genetics. 92, 3, p. 323-326 4 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)

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

18 Citations (Scopus)
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)
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)

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)

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

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)
2017

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

15 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

18 Citations (Scopus)
2019

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

9 Citations (Scopus)
2016
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)
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