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2020
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., 01-01-2020, In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
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 journal › Article › peer-review
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Bi-allelic variant c.8638_8658dup in HYDIN causes bronchiectasis in two siblings
Radhakrishnan, P., Magazine, R., Surendra, V. U., Mathur, N., Shukla, A. & Girisha, K. M., 01-12-2020, In: Gene Reports. 100961.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
2 Citations (Scopus) -
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., 01-11-2020, In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
1 Citation (Scopus) -
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Ebrahimi-Fakhari, D., Teinert, J., Behne, R., Wimmer, M., D'Amore, A., Eberhardt, K., Brechmann, B., Ziegler, M., Jensen, D. M., Nagabhyrava, P., Geisel, G., Carmody, E., Shamshad, U., Dies, K. A., Yuskaitis, C. J., Salussolia, C. L., Ebrahimi-Fakhari, D., Pearson, T. S., Saffari, A., Ziegler, A. & 68 others, , 01-10-2020, In: Brain : a journal of neurology. 143, 10, p. 2929-2944 16 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
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 journal › Article › peer-review
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Genetic disorders with central nervous system white matter abnormalities: An update
Shukla, A., Kaur, P., Narayanan, D. L., do Rosario, M. C., Kadavigere, R. & Girisha, K. M., 2020, (Accepted/In press) In: Clinical Genetics.Research output: Contribution to journal › Review article › peer-review
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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, , 01-11-2020, In: Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
2 Citations (Scopus) -
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 journal › Article › peer-review
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Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature
Kaur, P., Sharma, S., Kadavigere, R., Girisha, K. M. & Shukla, A., 01-07-2020, In: Annals of Human Genetics.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome
Somashekar, P. H., Upadhyai, P., Narayanan, D. L., Kamath, N., Bajaj, S., Girisha, K. M. & Shukla, A., 01-12-2020, In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
1 Citation (Scopus) -
Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement
Kaur, P., Kadavigere, R., Girisha, K. M. & Shukla, A., 01-04-2020, In: Brain : a journal of neurology. 143, 4, p. e29Research output: Contribution to journal › Letter › peer-review
3 Citations (Scopus) -
Response to Hall et al
University of Washington Center for Mendelian Genomics, 03-12-2020, In: American Journal of Human Genetics. 107, 6, p. 1188-1189 2 p.Research output: Contribution to journal › Letter › peer-review
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Spastic Paraplegia Type 56 in a Young Child
Samaddar, S., Kaur, P., Rajagopal, K. V., Girisha, K. M., Shukla, A. & Sharma, S., 01-08-2020, In: Indian Journal of Pediatrics.Research output: Contribution to journal › Letter › peer-review
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Trichothiodystrophy type 4 in an Indian family
Pande, S., Shukla, A. & Girisha, K. M., 01-10-2020, In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
1 Citation (Scopus) -
A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy
Shukla, A., Narayanan, D. L., Asher, U. & Girisha, K. M., 01-01-2019, In: Clinical Genetics. 96, 3, p. 276-277 2 p.Research output: Contribution to journal › Letter › peer-review
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Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome
Kanthi, A., Hebbar, M., Bielas, S. L., Girisha, K. M. & Shukla, A., 01-06-2019, In: European Journal of Medical Genetics.Research output: Contribution to journal › Article › peer-review
3 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 journal › Article › peer-review
2 Citations (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, , 01-02-2019, In: American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.Research output: Contribution to journal › Article › peer-review
13 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 journal › Article › peer-review
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 journal › Article › peer-review
2 Citations (Scopus) -
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, , 14-02-2019, In: BMC Medical Genetics. 20, 1, 31.Research output: Contribution to journal › Article › peer-review
8 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, , 01-12-2019, In: Journal of Human Genetics. 64, 12, p. 1173-1186 14 p.Research output: Contribution to journal › Article › peer-review
8 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 journal › Article › peer-review
2 Citations (Scopus) -
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, , 15-08-2019, In: Human Molecular Genetics. 28, 16, p. 2720-2737 18 p.Research output: Contribution to journal › Article › peer-review
5 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, , 07-03-2019, In: American Journal of Human Genetics. 104, 3, p. 439-453 15 p.Research output: Contribution to journal › Article › peer-review
5 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 journal › Article › peer-review
5 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 journal › Article › peer-review
6 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 journal › Article › peer-review
2 Citations (Scopus) -
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 journal › Article › peer-review
3 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, , 01-01-2019, In: Brain : a journal of neurology. 142, 1, p. 50-58 9 p.Research output: Contribution to journal › Article › peer-review
15 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 journal › Article › peer-review
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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 journal › Article › peer-review
3 Citations (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 journal › Article › peer-review
22 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 journal › Article › peer-review
20 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 journal › Article › peer-review
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 journal › Article › peer-review
4 Citations (Scopus) -
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ
Shukla, A., Saneto, R. P., Hebbar, M., Mirzaa, G. & Girisha, K. M., 01-05-2018, In: American Journal of Medical Genetics, Part A. 176, 5, p. 1232-1237 6 p.Research output: Contribution to journal › Article › peer-review
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 journal › Review article › peer-review
1 Citation (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 journal › Article › peer-review
5 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 journal › Article › peer-review
9 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 journal › Article › peer-review
16 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, , 13-09-2018, In: Nature. 561, 7722, p. E7Research output: Contribution to journal › Comment/debate › peer-review
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 journal › Article › peer-review
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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 journal › Article › peer-review
5 Citations (Scopus)