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2014
18 Citations (Scopus)

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Bidchol, A. M., Dalal, A., Shah, H., S, S., Nampoothiri, S., Kabra, M., Gupta, N., Danda, S., Gowrishankar, K., Phadke, S. R., Kapoor, S., Kamate, M., Verma, I. C., Puri, R. D., Sankar, V. H., Devi, A. R. R., Patil, S. J., Ranganath, P., Jain, S. J. M. N., Agarwal, M. & 7 others, Singh, A., Mishra, P., Tamhankar, P. M., Gopinath, P. M., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 01-11-2014, In : American Journal of Medical Genetics, Part A. 164, 11, p. 2793-2801 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Mucopolysaccharidosis IV
Mutation
Exons
N-acetylglucosamine-6-sulfatase
2010
1 Citation (Scopus)

Balanced translocation in mother leading to interchange trisomy 21?

Girisha, K. M., Rajasekhar, M., Gopinath, P. M. & Satyamoorthy, K., 2010, In : Genetic Counseling. 21, 2, p. 183-185 3 p.

Research output: Contribution to journalArticle

Down Syndrome
Mothers
Chromosomes, Human, Pair 21
Chromosome Segregation
Chromosomes, Human, Pair 4
2017
11 Citations (Scopus)

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

Leucine
Phosphotransferases
Mutation
Genes
Acro-Osteolysis
2016
38 Citations (Scopus)

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

2-chloro-1,1-difluoroethane
Hand
Exome
Ectoderm
Retinitis Pigmentosa
3 Citations (Scopus)

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Hebbar, M., Prasada L, H., Bhowmik, A. D., Trujillano, D., Shukla, A., Chakraborti, S., Kandaswamy, K. K., Rolfs, A., Kamath, N., Dalal, A., Bielas, S. & Girisha, K. M., 01-09-2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2486-2489 4 p.

Research output: Contribution to journalLetter

2017
1 Citation (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

India
Alleles
Exome
Population
Nucleotides
2016
1 Citation (Scopus)

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2

Hebbar, M., Girisha, K. M. & Shukla, A., 13-05-2016, In : BMJ Case Reports. 2016, 215162.

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Tooth Abnormalities
Clavicle
Inborn Genetic Diseases
Skull
2017
1 Citation (Scopus)

Ichthyosis congenita with biliary atresia: A rare association

Aroor, S., Kumar, S., Mundkur, S. & Girisha, K. M., 2017, In : Clinical Dysmorphology. 26, 3, p. 179-180 2 p.

Research output: Contribution to journalArticle

2010
3 Citations (Scopus)

Opsismodysplasia

Lewis, L. E. S., Ramesh Bhat, Y., Naik, P., Sethi, K. & Girisha, K. M., 05-2010, In : Indian Journal of Pediatrics. 77, 5, p. 567-568 2 p.

Research output: Contribution to journalArticle

Polyhydramnios
Osteochondrodysplasias
India
Observation
Opsismodysplasia
13 Citations (Scopus)

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

Girisha, K. M., Lewis, L. E., Phadke, S. R. & Kutsche, K., 11-2010, In : American Journal of Medical Genetics, Part A. 152, 11, p. 2861-2864 4 p.

Research output: Contribution to journalArticle

Costello Syndrome
Cutis Laxa
Mutation
Mosaicism
Skin
9 Citations (Scopus)

Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India

Phadke, S. R., Gupta, N., Girisha, K. M., Kabra, M., Maeda, M., Vidal, E., Moser, A., Steinberg, S., Puri, R. D., Verma, I. C. & Braverman, N., 2010, In : Journal of Applied Genetics. 51, 1, p. 107-110 4 p.

Research output: Contribution to journalArticle

Rhizomelic Chondrodysplasia Punctata
India
Alleles
Mutation
Chondrodysplasia Punctata
2012
1 Citation (Scopus)
Infectious Arthritis
Tibia
Femur
Bone and Bones
Knee
2015
1 Citation (Scopus)

Anomalies associated with single umbilical artery at perinatal autopsy

Nayak, S. S., Shukla, A. & Girisha, K. M., 01-01-2015, In : Indian Pediatrics. 52, 1, p. 73-74 2 p.

Research output: Contribution to journalArticle

Single Umbilical Artery
Autopsy
Fetus
Aborted Fetus
Gestational Age
1 Citation (Scopus)

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

Bartakke, S., Saindane, A., Udgirkar, V., Shrividya, S., Bhavani, G. S. L. & Girisha, K. M., 01-11-2015, In : Indian Journal of Pediatrics. 82, 11, p. 1073-1074 2 p.

Research output: Contribution to journalLetter

2011
4 Citations (Scopus)

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome

Shah, H., Singh, G., Vijayan, S. & Girisha, K. M., 01-2011, In : Clinical Dysmorphology. 20, 1, p. 55-57 3 p.

Research output: Contribution to journalArticle

2013
18 Citations (Scopus)

Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

Bierhals, T., Maddukuri, S. B., Kutsche, K. & Girisha, K. M., 02-2013, In : American Journal of Medical Genetics, Part A. 161, 2, p. 352-359 8 p.

Research output: Contribution to journalArticle

Phenotype
Seizures
Karyotyping
Microcephaly
Muscle Hypotonia
3 Citations (Scopus)

Jejunal atresia and postaxial polydactyly: A newly recognized phenotype

Girisha, K. M., Nayak, S. S., Rawal, A., Roopa, P. S. & Shetty, J., 07-2013, In : Clinical Dysmorphology. 22, 3, p. 121-123 3 p.

Research output: Contribution to journalComment/debate

2014
13 Citations (Scopus)

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Nampoothiri, S., Yesodharan, D., Sainulabdin, G., Narayanan, D., Padmanabhan, L., Girisha, K. M., Cathey, S. S., De Paepe, A., Malfait, F., Syx, D., Hennekam, R. C., Bonafe, L., Unger, S. & Superti-Furga, A., 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2317-2323 7 p.

Research output: Contribution to journalArticle

Rare Diseases
Tertiary Care Centers
Developing Countries
India
Gatekeeping
2015
21 Citations (Scopus)

The SMAD-binding domain of SKI: A hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., Mortier, G. R., Titheradge, H., Brueton, L., Starr, L., Stark, Z., Ockeloen, C., Lourenco, C. M., Blair, E. & 9 others, Hobson, E., Hurst, J., Maystadt, I., Destrée, A., Girisha, K. M., Miller, M., Dietz, H. C., Loeys, B. & Van Laer, L., 20-02-2015, In : European Journal of Human Genetics. 23, 2, p. 224-228 5 p.

Research output: Contribution to journalArticle

Mutation
Loeys-Dietz Syndrome
Oncogene Proteins
Missense Mutation
Intellectual Disability
2014
11 Citations (Scopus)

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

Girisha, K. M., Bidchol, A. M., Kamath, P. S., Shah, K. H., Mortier, G. R., Mundlos, S. & Shah, H., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 898-906 9 p.

Research output: Contribution to journalArticle

Extremities
Phenotype
Mutation
Hallux
Polydactyly
2015

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Shukla, A., Mandal, K., Patil, S. J., Kishore, Y., Phadke, S. R. & Girisha, K. M., 01-08-2015, In : American Journal of Medical Genetics, Part A. 167, 8, p. 1927-1931 5 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Williams Syndrome
2016
2 Citations (Scopus)

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease

Ranganath, P., Matta, D., Bhavani, G. S. L., Wangnekar, S., Jain, J. M. N., Verma, I. C., Kabra, M., Puri, R. D., Danda, S., Gupta, N., Girisha, K. M., Sankar, V. H., Patil, S. J., Ramadevi, A. R., Bhat, M., Gowrishankar, K., Mandal, K., Aggarwal, S., Tamhankar, P. M., Tilak, P. & 2 others, Phadke, S. R. & Dalal, A., 01-10-2016, In : American Journal of Medical Genetics, Part A. 170, 10, p. 2719-2730 12 p.

Research output: Contribution to journalArticle

Sphingomyelin Phosphodiesterase
Mutation
Acids
India
Founder Effect
1 Citation (Scopus)

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

Microcephaly
Intellectual Disability
Craniosynostoses
Karyotyping
Congenital Heart Defects
2018
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
2019
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
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

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
2018
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

2016
7 Citations (Scopus)

Phenotype and genotype in patients with Larsen syndrome: Clinical homogeneity and allelic heterogeneity in seven patients

Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 06-04-2016, In : BMC Medical Genetics. 17, 1, 27.

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Filamins
Immunoglobulins

Congenital high airway obstruction syndrome presenting as nonimmune hydrops in a 19-week fetus

Mundkur, A., Nayak, S. S., Vasudeva, A., Katta, G. M. & Kumar, P., 01-09-2016, In : International Journal of Infertility and Fetal Medicine. 7, 3, p. 99-102 4 p.

Research output: Contribution to journalArticle

Airway Obstruction
Edema
Fetus
Hydrops Fetalis
Pregnancy
9 Citations (Scopus)

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Uttarilli, A., Ranganath, P., Matta, D., Md Nurul Jain, J., Prasad, K., Babu, A. S., Girisha, K. M., Verma, I. C., Phadke, S. R., Mandal, K., Puri, R. D., Aggarwal, S., Danda, S., Sankar, V. H., Kapoor, S., Bhat, M., Gowrishankar, K., Hasan, A. Q., Nair, M., Nampoothiri, S. & 1 others, Dalal, A., 01-12-2016, In : Clinical Genetics. 90, 6, p. 496-508 13 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Mucopolysaccharidosis I
Iduronidase
Mucopolysaccharidoses
Mutation
2017
6 Citations (Scopus)

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Hammarsjö, A., Wang, Z., Vaz, R., Taylan, F., Sedghi, M., Girisha, K. M., Chitayat, D., Neethukrishna, K., Shannon, P., Godoy, R., Gowrishankar, K., Lindstrand, A., Nasiri, J., Baktashian, M., Newton, P. T., Guo, L., Hofmeister, W., Pettersson, M., Chagin, A. S., Nishimura, G. & 6 others, Yan, L., Matsumoto, N., Nordgren, A., Miyake, N., Grigelioniene, G. & Ikegawa, S., 01-12-2017, In : Scientific Reports. 7, 1, 15585.

Research output: Contribution to journalArticle

Nonsense Codon
Orofaciodigital Syndromes
Thorax
Phenotype
Mutation
2014
7 Citations (Scopus)

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

Nayak, S. S., Kadavigere, R., Mathew, M., Kumar, P., Hall, J. G. & Girisha, K. M., 2014, In : American Journal of Medical Genetics, Part A. 164, 10, p. 2643-2648 6 p.

Research output: Contribution to journalArticle

Fetus
Micrognathism
Pterygium
Clubfoot
Purkinje Cells
2016
82 Citations (Scopus)

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Rahim, S. A., Alkuraya, F. S., Casanova, J. L., Gleeson, J. G., Abdou, M., Abhytankar, A., Adimi, P., Ahmad, J., Akcakus, M. & 31 others, Aksu, G., Al Hajjar, S., Al Juamaah, S., Al Muhsen, S., Al Sannaa, N., Al Tameni, S., Al-Aama, J., Al-Allawi, N., Al-Baradie, R., Al-Gazali, L., Al-Hashem, A., Al-Herz, W., Al-Jeaid, D., Al-Tawari, A., Alangari, A., Alcais, A., AlFawaz, T. S., Alsum, Z., Ammar-Khodja, A., Amouian, S., Arikan, C., Aryani, O., Aslanger, A., Aydogmus, C., Aytekin, C., Azam, M., Bansagi, B., Barbouche, M. R., Bastaki, L., Girisha, K. M. & Greater Middle East Variome Consortium, 01-09-2016, In : Nature Genetics. 48, 9, p. 1071-1079 9 p.

Research output: Contribution to journalLetter

Genetic Association Studies
Middle East
Population
Consanguinity
Human Migration
2018
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
2019

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
2017
17 Citations (Scopus)

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Shukla, A., Hebbar, M., Srivastava, A., Kadavigere, R., Upadhyai, P., Kanthi, A., Brandau, O., Bielas, S. & Girisha, K. M., 01-07-2017, In : Journal of Human Genetics. 62, 7, p. 723-727 5 p.

Research output: Contribution to journalArticle

Founder Effect
Exome
Biological Phenomena
Lactic Acidosis
Protein Stability
2014
8 Citations (Scopus)

Organization for rare diseases India (ORDI)-addressing the challenges and opportunities for the Indian rare diseases' community

Rajasimha, H. K., Shirol, P. B., Ramamoorthy, P., Hegde, M., Barde, S., Chandru, V., Ravinandan, M. E., Ramchandran, R., Haldar, K., Lin, J. C., Babar, I. A., Girisha, K. M., Srinivasan, S., Navaneetham, D., Battu, R., Devarakonda, R., Kini, U., Vijayachandra, K. & Verma, I. C., 2014, In : Genetics Research. 96, e009.

Research output: Contribution to journalArticle

Rare Diseases
India
Organizations
Patient Advocacy
Molecular Pathology
2019
1 Citation (Scopus)

Development, behaviour and autism in individuals with SMC1A variants

SMC1A Consortium, 01-03-2019, In : Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Autistic Disorder
Self-Injurious Behavior
Phenotype
Cognition

Turner syndrome in diverse populations

Kruszka, P., Addissie, Y. A., Tekendo-Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Aravena, T., Nampoothiri, S., Yesodharan, D., Girisha, K. M., Patil, S. J., Jamuar, S. S., Goh, J. C. Y., Utari, A., Sihombing, N., Mishra, R., Chitrakar, N. S. & 32 others, Iriele, B. C., Lulseged, E., Megarbane, A., Uwineza, A., Oyenusi, E. E., Olopade, O. B., Fasanmade, O. A., Duenas-Roque, M. M., Thong, M. K., Tung, J. Y. L., Mok, G. T. K., Fleischer, N., Rwegerera, G. M., de Herreros, M. B., Watts, J., Fieggen, K., Huckstadt, V., Moresco, A., Obregon, M. G., Hussen, D. F., Ashaat, N. A., Ashaat, E. A., Chung, B. H. Y., Badoe, E., Faradz, S. M. H., El Ruby, M. O., Shotelersuk, V., Wonkam, A., Ekure, E. N., Phadke, S. R., Richieri-Costa, A. & Muenke, M., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Turner Syndrome
Population
Noonan Syndrome
Technology
Area Under Curve
2012
7 Citations (Scopus)

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Coutinho, M. F., Santos, L. D. S., Girisha, K. M., Satyamoorthy, K., Lacerda, L., Prata, M. J. & Alves, S., 05-2012, In : American Journal of Medical Genetics, Part A. 158 A, 5, p. 1225-1228 4 p.

Research output: Contribution to journalLetter

2018
2 Citations (Scopus)
Phenotype
Periventricular Nodular Heterotopia
Exome
Failure to Thrive
Microcephaly
2015
10 Citations (Scopus)

Recurrent and novel GLB1 mutations in India

Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., Ekbote, A. V., Puri, R. D., Phadke, S. R., Gowrishankar, K., Aggarwal, S., Ranganath, P., Sharda, S., Kamate, M. & 10 others, Datar, C. A., Bhat, K., Kamath, N., Shah, H., Krishna, S., Gopinath, P. M., Verma, I. C., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 10-08-2015, In : Gene. 567, 2, p. 173-181 9 p.

Research output: Contribution to journalArticle

India
Mutation
GM1 Gangliosidosis
Galactosidases
Nonsense Codon
2017
13 Citations (Scopus)

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 others, Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 01-08-2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Genotype
Phenotype
Rett Syndrome
Brain Diseases
21 Citations (Scopus)

Down syndrome in diverse populations

Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., La Qua, S., Shotelersuk, V., Chung, B. H. Y., Mok, G. T. K., Uwineza, A., Mutesa, L., Moresco, A., Obregon, M. G., Sokunbi, O. J., Kalu, N., Joseph, D. A., Ikebudu, D., Ugwu, C. E., Okoromah, C. A. N., Addissie, Y. A., Pardo, K. L. & 24 others, Brough, J. J., Lee, N. C., Girisha, K. M., Patil, S. J., Ng, I. S. L., Min, B. C. W., Jamuar, S. S., Tibrewal, S., Wallang, B., Ganesh, S., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Prabodha, L. B. L., Richieri-Costa, A., Muthukumarasamy, P., Thong, M. K., Jones, K. L., Abdul-Rahman, O. A., Ekure, E. N., Adeyemo, A. A., Summar, M., Linguraru, M. G. & Muenke, M., 01-01-2017, In : American Journal of Medical Genetics, Part A. 173, 1, p. 42-53 12 p.

Research output: Contribution to journalArticle

Down Syndrome
Population
Technology
Craniosynostoses
Lacrimal Apparatus
2018
6 Citations (Scopus)
Microcephaly
Quadriplegia
Muscle Spasticity
Seizures
Cisterna Magna
2019
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
2017
10 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
2016
95 Citations (Scopus)

Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism

Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C. P., Jansen, L. A., Menon, S., Timms, A. E., Conti, V., Biag, J. D., Olds, C., Boyle, E. A., Collins, S., Ishak, G., Poliachik, S. L., Girisha, K. M., Yeung, K. S., Chung, B. H. Y., Rahikkala, E., Gunter, S. A., McDaniel, S. S. & 25 others, Macmurdo, C. F., Bernstein, J. A., Martin, B., Leary, R. J., Mahan, S., Liu, S., Weaver, M., Dorschner, M. O., Jhangiani, S., Muzny, D. M., Boerwinkle, E., Gibbs, R. A., Lupski, J. R., Shendure, J., Saneto, R. P., Novotny, E. J., Wilson, C. J., Sellers, W. R., Morrissey, M. P., Hevner, R. F., Ojemann, J. G., Guerrini, R., Murphy, L. O., Winckler, W. & Dobyns, W. B., 01-07-2016, In : JAMA Neurology. 73, 7, p. 836-845 10 p.

Research output: Contribution to journalArticle

Megalencephaly
Malformations of Cortical Development
Mosaicism
Brain Diseases
Mutation
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