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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 journalArticle

Skeleton
Proteins
Brachydactyly
Endoribonucleases
Exome

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

X-Linked Mental Retardation
Heterogeneous-Nuclear Ribonucleoproteins
Heterogeneous Nuclear RNA
Muscle Hypotonia
Mosaicism

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

Congenital Myasthenic Syndromes
Type 1 Pena Shokeir syndrome

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

Epiphyses
Causality
Spine
Phenotype
Osteoarthritis with Mild Chondrodysplasia

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

Leukoencephalopathies
Ribitol
Phenotype
Pentose Phosphate Pathway
Exons
4 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, 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

De Lange Syndrome
Lip
Population
Technology
Nose
1 Citation (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

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

Mosaicism
Zinc Fingers
Intellectual Disability
Exome
Muscle Hypotonia
1 Citation (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, Kapoor, S., Bhatwadekar, S. & Sheth, F., 14-02-2019, In : BMC Medical Genetics. 20, 1, 31.

Research output: Contribution to journalArticle

Gaucher Disease
Biological Science Disciplines
Biochemistry
Cell Biology
Mutation

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Chromatin Assembly and Disassembly
Nails
Intellectual Disability
Nucleotides

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

Striatonigral Degeneration
Dystonic Disorders
Phenotype
Dystonia
Caudate Nucleus
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, 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

Microtubule Proteins
Centrosome
Centrioles
Cilia
Ribs
1 Citation (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

Exome
DNA Replication
DNA Repair
Computer Simulation
Embryonic Development

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

Brain Diseases
Internal Capsule
Inborn Errors Metabolism
Microcephaly
Muscle Hypotonia
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

Waardenburg Syndrome
Hearing Loss
Albinism
Exome
Mosaicism

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

Hereditary Spastic Paraplegia
Paraplegia
Exome
Nervous System Diseases
Lower Extremity

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

Fetus
Mutation
Nervous System Malformations
Exome
Polydactyly
6 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

Hydro-Lyases
Neurodegenerative Diseases
NAD
Fever
Fibroblasts

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

Glycogen Storage Disease Type IV
Glycogen Storage Disease
Fetus
Exome
Genetic Counseling

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Somashekar, P. H., Upadhyai, P., Shula, A. & Girisha, K. M., 01-01-2019, (Accepted/In press) In : Gene. 144229.

Research output: Contribution to journalArticle

Chronic Kidney Failure
Cystic Kidney Diseases
Kidney
Polycystic Kidney Diseases
Acidosis
1 Citation (Scopus)

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

India
Dysostoses
Osteogenesis Imperfecta
Inborn Genetic Diseases
Genetic Heterogeneity
5 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 journalArticle

Arthrogryposis
Multifactorial Inheritance
Genomics
Genes
Exome
5 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

Epiphyses
Exome
Ethanolamine
Mitochondrial Membranes
Cell Survival

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

Co-Repressor Proteins
Intellectual Disability
Exome
Histone Deacetylases
Germ-Line Mutation
2018
1 Citation (Scopus)

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

Cystic Kidney Diseases
Exome
Muscle Hypotonia
Corpus Callosum
Publications
1 Citation (Scopus)
Calcium-Independent Phospholipase A2
Exome
Mitochondrial Diseases
Microcephaly
Lactic Acidosis
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

Publications
India
Research
Phenotype
Genetic Association Studies
3 Citations (Scopus)
Phenotype
Periventricular Nodular Heterotopia
Exome
Failure to Thrive
Microcephaly
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 journalArticle

Congenital Heart Defects
Nervous System
Clustered Regularly Interspaced Short Palindromic Repeats
Craniofacial Abnormalities
Hypertrichosis
6 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

Microcephaly
Protein Isoforms
Pons
Paraplegia
Mesencephalon
7 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

Osteogenesis Imperfecta
Genetic Association Studies
Mutation
Exome
Bony Callus

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

Belgium
Medical Genetics
Extremities

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

Down Syndrome
Fetus
Audiovisual Aids
Aneuploidy
Pregnancy
1 Citation (Scopus)

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

Filamins
Connective Tissue
Mutation
Joint Instability
Mitral Valve Prolapse
1 Citation (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

Population
Leigh Disease
Exome
Electron Transport Complex I
Flavin Mononucleotide
6 Citations (Scopus)
Microcephaly
Quadriplegia
Muscle Spasticity
Seizures
Cisterna Magna

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

Exome
Lymphocytosis
Virus Diseases
Nervous System Diseases
Interferons
7 Citations (Scopus)

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

22 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

Extremities
Ligands
Regenerative Medicine
Ligases
Xenopus
3 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

Tarsal Bones
Carpal Bones
Osteochondrodysplasias
Thoracic Vertebrae
Wrist
13 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

Population
Technology
Phenotype
Asian Americans
Lip
2017
7 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

Genetic Databases
Mutation
Intellectual Disability
Ilium
Genetic Heterogeneity
4 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

Acetyl-CoA C-Acetyltransferase
RNA Splice Sites
Introns
Exons
Genes
11 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

Genes
Mutation
Germ-Line Mutation
Bone Development
Pyle disease
12 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

Ataxia
Spinocerebellar Degenerations
Protein Conformation
Purkinje Cells
Autophagy
1 Citation (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

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

Mutation
1 Citation (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

Spinocerebellar Degenerations
Mitochondrial Genome
Maintenance
Ataxia
Chronic Progressive External Ophthalmoplegia