Find Research outputs

Search results

• 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

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

  • Type 1 Pena Shokeir syndrome
  • Congenital Myasthenic Syndromes
  • Population Biological Variation

• 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

• 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

  • Osteoarthritis with Mild Chondrodysplasia
  • Achondrogenesis type 2
  • Congenita Spondyloepiphyseal dysplasia
  • Epiphyses
  • Causality
  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

  • India
  • Saudi Arabia
  • North America
  • Siblings
  • Brain Stem

• 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

  • Burn-Mckeown syndrome
  • Mandibulofacial Dysostosis
  • Choanal Atresia
  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, Kölker, S., Volkmann, J., Wiesener, A., Bearden, D. R., Lakhani, S., Segal, D., Udwadia-Hegde, A., Martinuzzi, A., Hirst, J., Perlman, S., Takiyama, Y., Xiromerisiou, G., Vill, K., Walker, W. O., Shukla, A., Dubey Gupta, R., Dahl, N., Aksoy, A., Verhelst, H., Delgado, M. R., Kremlikova Pourova, R., Sadek, A. A., Elkhateeb, N. M., Blumkin, L., Brea-Fernández, A. J., Dacruz-Álvarez, D., Smol, T., Ghoumid, J., Miguel, D., Heine, C., Schlump, J. U., Langen, H., Baets, J., Bulk, S., Darvish, H., Bakhtiari, S., Kruer, M. C., Lim-Melia, E., Aydinli, N., Alanay, Y., El-Rashidy, O., Nampoothiri, S., Patel, C., Beetz, C., Bauer, P., Yoon, G., Guillot, M., Miller, S. P., Bourinaris, T., Houlden, H., Robelin, L., Anheim, M., Alamri, A. S., Mahmoud, A. A. H., Inaloo, S., Habibzadeh, P., Faghihi, M. A., Jansen, A. C., Brock, S., Roubertie, A., Darras, B. T., Agrawal, P. B., Santorelli, F. M., Gleeson, J., Zaki, M. S., Sheikh, S. I., Bennett, J. T. & Sahin, M., 01-10-2020, In: Brain : a journal of neurology. 143, 10, p. 2929-2944 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Adaptor Protein Complex 4
  • Hereditary Spastic Paraplegia
  • Molecular Imaging
  • Colpocephaly
  • Epilepsy
  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

  • Primary Hypertrophic Osteoarthropathy
  • Exome
  • 15-hydroxyprostaglandin dehydrogenase
  • Prostaglandins
  • Mutation

• 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

  • Inborn Genetic Diseases
  • White Matter
  • Neuroimaging
  • Central Nervous System
  • Exome

• 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., 01-11-2020, In: Journal of Human Genetics.

  Research output: Contribution to journal › Article › peer-review

  • Mucolipidoses
  • Computer Simulation
  • UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase
  • Mutation
  • Enzymes

• 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

  • Arthrogryposis
  • Mutation
  • Skeletal Muscle
  • Myosins
  • Contracture
  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

  • Nephronophthisis 2
  • Chronic Kidney Failure
  • Cystic Kidney Diseases
  • Polycystic Kidney Diseases
  • Kidney

• 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

  • Mitochondrial Complex II Deficiency
  • Leigh Disease
  • respiratory complex II
  • Mitochondrial Genes
  • Exome
  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

  • Waardenburg Syndrome
  • Genetic Variation
  • Autosomal Recessive 1A Deafness
  • Base Pairing
  • Nucleotides

• 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

  • 1.35-Mb Chromosome 1q21.1 Deletion Syndrome
  • Population Biological Variation
  • Microcephaly
  • Fathers
  • Siblings
  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. e29

  Research 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

• 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

• 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

  • Trichothiodystrophy Syndromes
  • Hair
  • Ectoderm
  • Nails
  • Intellectual Disability
• 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

  • Skeleton
  • Anauxetic dysplasia
  • Cartilage-hair hypoplasia
  • mitochondrial RNA-processing endoribonuclease
  • Proteins
  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

• 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

  • Crisponi syndrome
  • Bohring syndrome
  • BTB-POZ Domain
  • Phenotype
  • Periventricular Nodular Heterotopia
  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

  • Ribose 5-Phosphate Isomerase Deficiency
  • Leukoencephalopathies
  • ribosephosphate isomerase
  • arabitol
  • Ribitol
  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, 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 journal › Article › peer-review

  • De Lange Syndrome
  • Lip
  • Population
  • Technology
  • Nose
  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

  • Mosaicism
  • Zinc Fingers
  • Intellectual Disability
  • Whole Exome Sequencing
  • Exome
  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, Kapoor, S., Bhatwadekar, S. & Sheth, F., 14-02-2019, In: BMC Medical Genetics. 20, 1, 31.

  Research output: Contribution to journal › Article › peer-review

  • Biological Science Disciplines
  • Biochemistry
  • Cell Biology
  • Mutation
  • Genes
  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, 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 journal › Article › peer-review

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

  • 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 journal › Article › peer-review

  • Cakut
  • Ciliopathies
  • Microtubule Proteins
  • Centrosome
  • Centrioles
  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, 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 journal › Article › peer-review

  • Whole Exome Sequencing
  • Protein Domains
  • DNA Replication
  • Computer Simulation
  • DNA Repair
  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

  • Cataract and cardiomyopathy
  • Epileptic Encephalopathy, Early Infantile, 1
  • Internal Capsule
  • Inborn Errors Metabolism
  • Microcephaly
  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

  • Waardenburg Syndrome
  • Population Biological Variation
  • Hearing Loss
  • Albinism
  • Mosaicism
  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

  • Hereditary Spastic Paraplegia
  • Paraplegia
  • X-linked Spastic paraplegia 2
  • Exome
  • Nervous System Diseases
  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

  • Meckel syndrome type 1
  • Fetus
  • Mutation
  • Polydactyly
  • Nervous System Malformations
  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, 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 journal › Article › peer-review

  • 6-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide
  • Hydro-Lyases
  • NAD
  • Neurodegenerative Diseases
  • Fever
  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

  • Type 1 Pena Shokeir syndrome
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disease
  • Fetus
  • Exome

• 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

  • India
  • Dysostoses
  • Osteogenesis Imperfecta
  • Genetic Heterogeneity
  • Genetic Testing
  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

  • Arthrogryposis
  • Multifactorial Inheritance
  • Genomics
  • Genes
  • Exome
  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

  • Epiphyses
  • Ethanolamine
  • benzyloxycarbonylleucyl-leucyl-leucine aldehyde
  • Exome
  • phosphatidylethanolamine
  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

  • Co-Repressor Proteins
  • Intellectual Disability
  • Whole Exome Sequencing
  • Histone Deacetylases
  • Germ-Line Mutation
  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

  • Joubert syndrome 1
  • Cystic Kidney Diseases
  • Exome
  • Muscle Hypotonia
  • Corpus Callosum
  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

  • Calcium-Independent Phospholipase A2
  • Lactic Acidosis
  • Mitochondrial Diseases
  • Microcephaly
  • Whole Exome Sequencing
  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

  • India
  • Publications
  • Phenotype
  • Genetic Association Studies
  • PubMed
  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

  • Neurodevelopmental Disorders
  • Congenital Heart Defects
  • Nervous System
  • Meristem
  • Craniofacial Abnormalities
  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

  • Pontocerebellar Hypoplasia
  • Microcephaly
  • Protein Isoforms
  • Pons
  • Paraplegia
  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

  • Osteogenesis Imperfecta
  • Genetic Association Studies
  • Mutation
  • Collagen Type I
  • Bony Callus
  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, 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 journal › Comment/debate › peer-review

  • Medical Genetics
  • Belgium
  • Extremities
  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

  • Down Syndrome
  • Fetus
  • Audiovisual Aids
  • Aneuploidy
  • Pregnancy

• 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

  • Filamins
  • Connective Tissue
  • Mutation
  • Mitral Valve Prolapse
  • Joint Instability
  5 Citations (Scopus)