Items where Author is "Girisha, KM"
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Radhakrishnan, Periyasamy and Girisha, KM and Nayak, Shalini S and Shukla, Anju (2020) Mutations in mylpf cause a novel segmental amyoplasia that manifests as distal arthrogryposis. The American Journal of Human Genetics, 107. pp. 1-18. ISSN 0002-9297

Girisha, KM (2020) Mutations in srebf1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant ifap syndrome. The American Journal of Human Genetics, 107. pp. 1-12. ISSN 0002-9297

Lakshmi, Dhanya N and Girisha, KM (2020) Genomic testing for diagnosis of genetic disorders in children: Chromosomal microarray and next–generation sequencing. Indian Pediatrics, 57. pp. 549-557. ISSN 0019-6061

Girisha, KM (2020) Turner syndrome in diverse populations. American Journal of Medical Genetics- Part A, 182 (2). pp. 303-313. ISSN 1552-4825

Girisha, KM and Gandham, SriLakshmi Bhavani and Shah, Hitesh and Moirangthem, Amita and Shukla, Anju (2020) Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1:Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American Journal of Medical Genetics- Part A, 182. pp. 338-347. ISSN 1552-4825

Girisha, KM and Shukla, Anju (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65. pp. 971-984. ISSN 1434-5161

Lewis, SS and Girisha, KM (2020) Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India. Clinical and Experimental Dermatology, 45. pp. 409-413. ISSN 0307-6938

Girisha, KM and Shukla, Anju (2019) Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. Human Molecular Genetics, 28 (16). pp. 2720-2737. ISSN 0964-6906

Shukla, Anju and Radhakrishnan, Periyasamy and Girisha, KM (2019) The genomics of arthrogryposis, a complex trait: Candidate genes and further evidence for oligogenic inheritance. The American Journal of Human Genetics, 105. pp. 132-150. ISSN 0002-9297

Kaur, Parneet and Girisha, KM and Shukla, Anju (2019) Confirmation of a rare genetic leukoencephalopathy due to a novel biallelic variant in RPIA. European Journal of Medical Genetics, 62. pp. 1-4. ISSN 1769-7212

Girisha, KM and Shukla, Anju and Nayak, Shalini S (2019) Cornelia de lange syndrome in diverse populations. American Journal of Medical Genetics- Part A, 179 (2). pp. 150-158. ISSN 1552-4825

Kaur, Parneet and Mishra, Shivani and Shimoga, Rajesh M and Girisha, KM and Shukla, Anju (2019) GATAD2B-related intellectual disability due to parental mosaicism and review of literature. Clinical Dysmorphology, 28 (4). pp. 190-194. ISSN 0962-8827

Shukla, Anju and Girisha, KM (2019) Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients. Journal of Human Genetics, 64 (12). pp. 1173-1186. ISSN 1434-5161

Kaur, Parneet and Gandham, SriLakshmi Bhavani and Raj, Arun and Girisha, KM and Shukla, Anju (2019) Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. Journal of Human Genetics, 64. pp. 1237-1242. ISSN 1434-5161

Kaur, Parneet and Neethukrishna, Kausthubham and Girisha, KM and Shukla, Anju (2019) Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. American Journal of Medical Genetics- Part A, 179A. pp. 857-861. ISSN 1552-4825

Girisha, KM (2019) Identification of novel variants in a large cohort of children with Tay–Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by government of India. Journal of Human Genetics, 64. pp. 985-994. ISSN 1434-5161

Radhakrishnan, Periyasamy and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2019) Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical Genetics, 96. pp. 560-565. ISSN 0009-9163

Shukla, Anju and Girisha, KM and Somashekar, Puneeth H (2019) Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability,dysmorphic features, and behavioral abnormalities. American Journal of Medical Genetics Part - A, 179A. pp. 870-874. ISSN 1552-4833

Narayanan, Dhanya L and Shukla, Anju and Kausthubham, Neethukrishna and Bhavani, Gandham SriLakshmi and Shah, Hitesh and Girisha, KM (2019) An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. American Journal of Medical Genetics Part- A, 179A. pp. 1709-1717. ISSN 1552-4833

Shukla, Anju and Narayanan, Dhanya L and Asher, Urja and Girisha, KM (2019) A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy. Clinical Genetics, 96 (3). pp. 276-277. ISSN 0009-9163

Jacob, Prince and Girisha, KM (2019) The third family with Eiken syndrome. Clinical Genetics, 96. pp. 378-379. ISSN 0009-9163

Somashekar, Puneeth H and Girisha, KM and Lewis, Leslie and Shenoy, Shailaja and Shukla, Anju (2018) Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical Genetics. pp. 1-5. ISSN 0009-9163

Salian, Smrithi and Shukla, Anju and Shah, Hitesh and Bhat, Shyamasunder N and Bhat, Veena R and Girisha, KM (2018) Seven additional families with spondylocarpotarsal synostosissyndrome with novel biallelic deleterious variants in FLNB. Clinical Genetics, 94 (1). pp. 159-164. ISSN 0009-9163

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2018) Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European Journal of Human Genetics, 26 (5). pp. 695-708. ISSN 1018-4813

Shukla, Anju and Girisha, KM (2018) Williams–Beuren syndrome in diverse populations. American Journal of Medical Genetics- Part A, 176(A) (5). pp. 1128-1136. ISSN 1552-4825

Uttarilli, Anusha and Shah, Hitesh and Shukla, Anju and Girisha, KM (2018) A review of skeletal dysplasia research in India. Journal of Postgraduate Medicine, 64 (2). pp. 98-103. ISSN 0022-3859

Hebbar, Malavika and Kanthi, Anil and Hebbar, Shrikiran and Girisha, KM and Shukla, Anju (2018) p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome. American Journal of Medical Genetics Part - A, 176 A (1). pp. 156-160. ISSN 1552-4833

Shukla, Anju and Girisha, KM (2018) FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature. BMC Medical Genetics, 19 (1). pp. 1-13.

Girisha, KM (2018) Introducing in AJMG Part A: Case reports in diverse populations. American Journal of Medical Genetics: Part A, 176 (7). pp. 1547-1548.

Moirangthem, Amita and Jacob, Prince and Girisha, KM (2018) Report of second case and clinical and molecular characterization of Eiken syndrome. Clinical Genetics, 94. pp. 457-460. ISSN 0009-9163

Girisha, KM and Neethukrishna, K and Shukla, Anju and Gandham, SriLakshmi Bhavani (2018) The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Human Mutation. pp. 1-11.

Hebbar, Malavika and Girisha, KM and Shukla, Anju (2017) Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. European Journal of Medical Genetics, 60 (10). pp. 533-535. ISSN 1769-7212

Shukla, Anju and Girisha, KM (2017) Noonan syndrome in diverse populations. American Journal of Medical Genetics Part - A, 173 (9). pp. 2323-2334. ISSN 1552-4833

Kotabagi, S and Shah, Hitesh and Shukla, Anju and Girisha, KM (2017) Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. Clinical Genetics, 92 (3). pp. 323-326. ISSN 0009-9163

Bhavani, SriLakshmi and Girisha, KM and Vahab, Saadi Abdul and Satyamoorthy, K (2017) The promise of discovering population-specific disease-associated genes in South Asia. Nature Genetics, 9 (9). pp. 1403-1407. ISSN 1061-4036

Girisha, KM (2017) Phenotypes and genotypes in individuals with SMC1A variants. American Journal of Medical Genetics- Part A, 173 (8). pp. 2108-2125. ISSN 1552-4825

Galada, Chelna and Shah, Hitesh and Shukla, Anju and Girisha, KM (2017) A novel sequence variant in SFRP4 causing pyle disease. Journal of Human Genetics, 62 (5). pp. 575-576. ISSN 1434-5161

Hebbar, Malavika and Chandra, Tanya and Shukla, Anju and Rajagopal, KV and Girisha, KM (2017) Complexities in genotype - Phenotype correlaion and genetic counseling in collagen VI- Related myopathy. Indian Journal of Pediatrics, 84 (4). pp. 330-331. ISSN 0019-5456

Puneeth, H and Somashekar, * and Shukla, Anju and Girisha, KM (2017) Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. Ophthalmic Genetics. pp. 1-4. ISSN 1381-6810

Girisha, KM and Hebbar, Malavika and Shukla, Anju and Shah, Hitesh and Nismath, Shifa (2017) Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. Journal of Human Genetics, 62 (3). pp. 437-441. ISSN 1434-5161

Girisha, KM (2017) Down syndrome in diverse populations. American Journal Of Medical Genetics : Part A, 173A (1). pp. 42-53.

Girisha, KM (2017) The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology, 31 (1). e17 -e20. ISSN 0926-9959

Salian, Smrithi and Gandham, SriLakshmi Bhavani and Shukla, Anju and Girisha, KM (2017) Additional Three Patients With Smith-McCort Dysplasia Due to Novel RAB33B Mutations. American Journal of Medical Genetics- Part A, 173 (3). pp. 1-8. ISSN 1552-4825

Somashekar, Puneeth H and Shukla, Anju and Girisha, KM (2017) Clinical variability in familial X-Linked ohdo syndrome–Maat-Kievit-Brunner type with MED12 mutation. Journal of Pediatric Genetics, 6 (3). pp. 198-203. ISSN 2146-4596

Shukla, Anju and Hebbar, Malavika and Rajagopal, KV and Upadhyai, Priyanka and Kanthi, A and Girisha, KM (2017) Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. Journal of Human Genetics, 62 (7). pp. 723-727. ISSN 1434-5161

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2017) Hyperphosphatasia with mental retardation syndrome due to a novel mutation in PGAP3. Journal of Pediatric Genetics, 6 (3). pp. 191-193. ISSN 2146-4596

Hebbar, Shrikiran and Kumar, Sandeep and Mundkur, Suneel C and Girisha, KM (2017) Ichthyosis congenita with biliary atresia: a rare association. Clinical Dysmorphology, 26 (3). pp. 179-180. ISSN 0962-8827

Shukla, Anju and Girisha, KM (2017) India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin. BMC Research Notes, 10. pp. 233-236. ISSN 1756-0500

Girisha, KM and Shukla, Anju (2017) Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism. The American Journal of Human Genetics, 100 (1). pp. 117-127. ISSN 0002-9297

Girisha, KM and Neethukrishna, K (2017) Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific Reports, 7 (15585). pp. 1-13. ISSN 2045-2322

Radhakrishnan, P and Nayak, Shalini S and Pai, Muralidhar V and Shukla, Anju and Girisha, KM (2017) Occurrence of synpolydactyly and omphalocele in a fetus with a HOXD13 mutation. Journal of Pediatric Genetics, 6 (3). pp. 194-197. ISSN 2146-4596

Salian, Smrithi and Shukla, Anju and Girisha, KM (2017) Severe form of brachydactyly type A1 in a child with a c.298G > A mutation in IHH gene. Journal of Pediatric Genetics, 6 (3). pp. 177-180. ISSN 2146-4596

Nayak, Shalini S and Salian, Smrithi and Shukla, Anju and Mathew, Mary and Girisha, KM (2017) Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. Congenital Anomalies, 57 (3). pp. 83-85. ISSN 0914-3505

Girisha, KM (2016) Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Molecular Genetics and Metabolism, 120 (3). pp. 247-254. ISSN 1096-7192

Bhavani, Gandham SriLakshmi and Girisha, KM (2016) Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease. American Journal of Medical Genetics Part-A, 170 (10). pp. 2719-2730.

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2016) Homozygous deletion of Exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. American Journal of Medical Genetics Part A, 170 (9). pp. 2486-2489.

Girisha, KM and Shah, Hitesh and Bhavani, Gandham SriLakshmi (2016) A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics, 24 (8). pp. 1206-1210.

Upadhyay, Neha and Pai, Muralidhar V and Nayak, Shalini S and Girisha, KM and Shukla, Anju (2016) Congenital omphalocele and cleft palate in two fetuses. Congenital Anomalies, 56 (4). pp. 190-191. ISSN 0914-3505

Shah, Krupa H and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2016) Spectrum of urorectal septum malformation sequence. Congenital Anomalies, 56 (4). pp. 119-126. ISSN 0914-3505

Girisha, KM (2016) Cortical-Bone Fragility — Insights from sFRP4 deficiency in Pyle’s disease. New England Journal of Medicine, 374 (26). pp. 2553-2. ISSN 0028-4793

Girisha, KM (2016) A Novel EDARADD 5 -Splice site mutation resulting in activation of two alternate cryptic 5-Splice sites causes autosomal recessive hypohidrotic ectodermal dysplasia. American Journal of Medical Genetics- Part A, 170 (6). pp. 1639-1641. ISSN 1552-4825

Girisha, KM (2016) BGN mutations in X-Linked spondyloepimetaphyseal dysplasia. The American Journal of Human Genetics, 98 (6). pp. 1243-1248. ISSN 0002-9297

Girisha, KM (2016) Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood, 127 (25). pp. 3154-3164. ISSN 0006-4971

Girisha, KM (2016) Hunting for mutations in Indian patients with hunter syndrome. Indian Pediatrics, 53 (2). p. 117. ISSN 0019-6061

Girisha, KM (2016) Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurology, 73 (7). pp. 836-845.

Shukla, Anju and Upadhyai, Priyanka and Shah, Jhanvi and Neethukrishna, K and Girisha, KM (2016) Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature. European Journal of Medical Genetics, 60 (2). pp. 118-123. ISSN 1769-7212

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2016) Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. The American Journal of Human Genetics, 99. pp. 1206-1210. ISSN 0002-9297

Hebbar, Malavika and Girisha, KM and Shukla, Anju (2016) Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. BMJ Case Report. pp. 1-3. ISSN 1757-790X

Karun, Kalesh M and Binu, VS and Nair, Sreekumaran N and Prasad, Manjunatha K and Prasad, Keerthana and Girisha, KM (2016) Estimation of correlation between various types of pixel intensities in a single spot. Electronic Journal of Applied Statistical Analysis, 9 (1). pp. 58-69. ISSN 2070-5948

Salian, Smrithi and Vahab, Saadi Abdul and Shukla, Anju and Shah, Hitesh Hasmukhalal and Ramamurhty, B and Shenoy, R and Satyamoorthy, K and Girisha, KM (2016) Evaluation of multiplex ligation dependent probe amplification as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Genetic Counseling, 27 (4). pp. 449-460. ISSN 1015-8146

Salian, Smrithi and Girisha, KM (2016) Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. Indian Journal of Dermatology, Venereology, and Leprology, 61 (6). pp. 1-3. ISSN 0378-6323

Uttarillia, A and Girisha, KM (2016) Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clinical Genetics, 90 (12). pp. 496-508. ISSN 0009-9163

Gandham, SriLakshmi Bhavani and Girisha, KM (2016) Metatropic Dysplasia with a Novel Mutation in TRPV4. Indian Pediatrics, 53 (8). pp. 735-737. ISSN 0019-6061

Salian, Smrithi and Gupta, Ashish and Shukla, Anju and Girisha, KM (2016) Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis. Indian Journal of Dermatology, 61 (1). pp. 122-125. ISSN 0019-5154

Girisha, KM (2016) PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1 (9). pp. 1-18. ISSN 2379-3708

Girisha, KM and Bidchol, Abdul Mueed and Gupta, Ashish and Shah, Hitesh (2016) Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC Medical Genetics, 17 (27). pp. 1-14.

Shukla, Anju and Hebbar, Malavika and Kadavigere, Rajagopal and Girisha, KM (2016) Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome. American Journal of Medical Genetics- Part A. pp. 1-2. ISSN 1552-4825

Nayak, Shalini S and Shukla, Anju and Girisha, KM (2016) RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature Communications, 557. pp. 564-569. ISSN 0028-0836

Rao, Raghavendra and Girisha, KM (2016) Unusual Skin Manifestations in a Patient with Menkes Disease. American Journal of Medical Genetics- Part A, 170 (11). pp. 3039-3040. ISSN 1552-4825

Girisha, KM and Shukla, Anju and Bhavani, Gandham SriLakshmi and Hebbar, Malavika and Rajagopal, KV (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clinical Genetics, 90 (12). pp. 536-539. ISSN 0009-9163

Bhavani, Gandham SriLakshmi and Girisha, KM (2015) Novel mutation in an Indian patient with transcobalamin II deficiency. The Indian Journal of Pediatrics. pp. 1-2. ISSN 0019-5456

Karun, Kalesh M and Binu, VS and Prasad, Keerthana and Nair, Sreekumaran N and Prasad, Manjunath K and Girisha, KM (2015) Review on image segmentation methods in cDNA microarray experiments and a novel algorithm for segmentation. International Journal of Emerging Science and Engineering (IJESE), 3 (5). pp. 23-24. ISSN 2319–6378

Bidchol, Abdul Mueed and Girisha, KM (2015) White matter changes in GM1 gangliosidosis. Indain Pediatrics, 52. pp. 155-156.

Nayak, Shalini S and Shukla, Anju and Girisha, KM (2015) Anomalies Associated with Single Umbilical Artery at Perinatal Autopsy. Indian Pediatrics, 52. pp. 73-74.

Nayak, Shalini S and Shukla, Anju and Lewis, Leslie and Kadavigere, Rajagopal and Mathew, Mary and Adiga, Prashanth K and Vasudeva, Akhila and Kumar, Pratap and Shetty, Jyothi and Shah, Hitesh and Girisha, KM (2015) Clinical Utility of Fetal Autopsy and Its Impact on Genetic Counseling. Prenatal Diagnosis, 35. pp. 1-7.

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Kamath, Asha and Girisha, KM (2015) Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy. American Journal of Medical Genetics. pp. 1-8.

Shukla, Anju and Girisha, KM (2015) Co-Occurrence of a De Novo Williams and 22q11.2 microdeletion syndromes. American Journal of Medical Genetics Part A, 167 (4). pp. 1-5.

Salian, Smrithi and Girisha, KM (2015) Familial 7q11.23 Duplication With Variable Phenotype. American Journal of Medical Genetics. pp. 1-4.

Girisha, KM (2015) Gene, Genome and Genetic Basis of Diseases. In: PG Textbook of Pediatrics. Jaypee Brothers Medical Publishers (P) Ltd, New Delhi, pp. 19-21. ISBN 978-93-5152-725-1

Madireddi, Jagadesh and Sarada, P and Shetty, RK and Prabhu, Mukhyaprana and Girisha, KM (2015) Hunter syndrome with its typical heart: a close mimic to rheumatic heart. BMJ Case Report. pp. 1-5. ISSN 1757-790X

Gupta, Ashish and Uttarilli, Anusha and Dalal, Ashwin B and Girisha, KM (2015) Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Report. pp. 1-3. ISSN 1757-790X

Vasudeva, Akhila and Nayak, Shalini S and Rajagopal, KV and Girisha, KM and Shetty, Jyothi (2015) Middle Interhemispheric Variant of Holoprosencephaly – Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus. Journal of Clinical and Diagnostic Research, 9 (9). pp. 11-13.

Girisha, KM (2015) Molecular genetics, human genome project and genomic medicine. In: API Textbook of Medicine. Jaypee Brothers Medical Publishers (P) Ltd, New Delhi, pp. 316-321. ISBN 978-93-5152-415-1

Girisha, KM (2015) Mucopolysaccharidoses. In: PG Textbook of Pediatrics. Jaypee Brothers Medical Publishers (P) Ltd, New Delhi, pp. 139-143. ISBN 978-93-5152-725-1

Bhavani, Gandham SriLakshmi and Shah, Hitesh and Shukla, Anju and Girisha, KM (2015) Novel and recurrent mutations in WISP3 and an atypical phenotype. American Journal of Medical Genetics Part A. pp. 1-4.

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Girisha, KM (2015) Progressive Pseudorheumatoid Dysplasia. GeneReviews. pp. 1-16.

Bidchol, Abdul Mueed and Shukla, Anju and Hebbar, Shrikiran and Bhat, Ramesh Y and Matta, Divya and Shah, Hitesh and Gopinath, PM and Satyamoorthy, K and Girisha, KM (2015) Recurrent and novel GLB1 mutations in India. Gene, 40 (485). pp. 1-9. ISSN 0378-1119

Nayak, Shalini S and Shukla, Anju and Kodandapani, Sreelakshmi and Adiga, Prashanth K and Girisha, KM (2015) What does fetal autopsy unmask in oligohydramnios? The Journal of Maternal-Fetal & Neonatal Medicine. pp. 1-5. ISSN 1476-7058

Girisha, KM (2014) Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics. pp. 1-10.

Girisha, KM (2014) The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome. European Journal of Human Genetics. pp. 1-5.

Girisha, KM (2014) CFTR Mutations in India: Need to do More! Gemetocost's perspective. Indian Pediatrics, 51. pp. 177-178.

Girisha, KM and Bhavani, Gandham SriLakshmi and Shah, Hitesh (2014) A Syndrome of Facial Dysmorphism, Cubital Pterygium, Short Distal Phalanges, Swan Neck Deformity of Fingers, and Scoliosis. American Journal Of Medical Genetics Part - A. pp. 1-6.

Girisha, KM (2014) 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. American Journal Of Medical Genetics - Part - A, 9999. pp. 1-7.

Girisha, KM (2014) Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. Molecular Syndromology. pp. 1-11.

Nayak, Shalini S and Kadavigere, Rajagopal and Mathew, Mary and Kumar, Pratap and Girisha, KM (2014) Fetal Akinesia Deformation Sequence: Expanding the Phenotypic Spectrum. American Journal of Medical Genetics. pp. 1-6.

Bidchol, Abdul Mueed and Shah, Hitesh and Satyamoorthy, K and Girisha, KM (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part - A, 9999. pp. 1-9.

Shah, Krupa H and Sarpangala, Shailaja and Girisha, KM (2014) Is Coloboma a Feature of Fetal Valproate Syndrome? Clinical Dysmorphology, 23. pp. 24-25.

Girisha, KM (2014) Microduplications Encompassing the Sonic Hedgehog Limb Enhancer ZRS are Associated with Haas Type Polysyndactyly and Laurin-Sandrow Syndrome. Clinical Genetics. pp. 1-18.

Girisha, KM and Shah, Hitesh (2014) Mutation Spectrum of COL1A1 and COL1A2 Genes in Indian Patients With Osteogenesis Imperfecta. American Journal Of Medical Genetics Part -A, 9999. pp. 1-8.

Girisha, KM and Shah, Hitesh (2014) Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. European Journal of Medical Genetics. pp. 1-7. ISSN 1769-7212

Girisha, KM and Bidchol, Abdul Mueed and Kamath, Preeti S and Shah, Krupa H and Shah, Hitesh (2014) A Novel Mutation (g.106737G>T) in Zone of Polarizing Activity Regulatory Sequence (ZRS) Causes Variable Limb Phenotypes in Werner Mesomelia. American Journal Of Medical Genetics Part-A, 9999. pp. 1-9.

Girisha, KM (2014) Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases’ community. Genetics Research Cambridge, 96 (9). pp. 1-10.

Soundaram, V and Bhat, Ramesh Y and Lewis, Leslie and Girisha, KM and Jayashree, P and Balasubramanian, Sudha and Pratyusha, R (2014) Pfeiffer syndrome with extreme proptosis, hypothyroidism and tail like appendage. Oman Medical Journal, 29 (5). pp. 1-3.

Nayak, Shalini S and Adiga, Prashanth K and Girisha, KM (2014) Symmetrical Terminal Transverse Limb Deficiencies. Indian Journal of Pediatrics. pp. 1-2.

Girisha, KM and Bidchol, Abdul Mueed and Sarpangala, Murali Keshava and Satyamoorthy, K (2013) A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome. The Indian Journal of Pediatrics. pp. 1-3. ISSN 0019-5456

John, Neetha and Rajasekhar, Moka and Girisha, KM and Sharma, Podila Satya Venkata Narasimha and Puthiya, Gopinath Mundyat (2013) Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India. Indian Journal of Human Genetics, 19 (2). pp. 163-168.

Nayak, S and Rawal, Asha and Adiga, Prashanth K and Rai, Lavanya and Girisha, KM (2013) Single forearm bone on antenatal scan: Diagnosis of VACTERL association on autopsy. Genetic Clinics, 6 (1). pp. 1-18.

Maddukuri, Satish Babu and Girisha, KM (2013) Expanding the Phenotype Associated With 17q12 Duplication: Case Report and Review of the Literature. American Journal of Medical genetics Part A, 161 (2). pp. 352-359.

Girisha, KM (2013) Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Molecular Genetics and Metabolism, xxx. pp. 1-10.

Girisha, KM and Nayak, Shalini S and Rawal, Asha and Roopa, Padavagodu S and Shetty, Jyothi (2013) Jejunal atresia and postaxial polydactyly: a newly recognized phenotype. Clinical Dysmorphology, 22 (3). pp. 121-123.

Girisha, KM (2013) Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. European Journal of Human Genetics, 21. pp. 1074-1078.

Vivek, G and Shetty, Ranjan K and Nayak, Shalini S and Girisha, KM and Naha, Kushal (2013) Prenatal diagnosis of absent pulmonary valve confirmed by autopsy. BMJ Case Report. pp. 1-3.

Shah, Hitesh and Girisha, KM (2012) Growth Retardation, Intellectual Disability, Facial Anomalies, Cataract, Thoracic Hypoplasia, and Skeletal Abnormalities: A Novel Phenotype. American Journal of Medical Genetics Part - A. pp. 1-5.

Girisha, KM and Pratap, Deepika and Shah, Hitesh (2012) Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports. Clinical Dysmorphology, 21 (2). pp. 83-86. ISSN 0962-8827

Shah, Hitesh and Vijayan, Sandeep and Girisha, KM (2012) Analysis of the WISP3 Gene in Indian Families With Progressive Pseudorheumatoid Dysplasia. American Journal of Medical Genetics Part - A. pp. 1-9.

Tercier, Stephane and Siddesh, ND and Shah, Hitesh and Girisha, KM and Joseph, Benjamin (2012) Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis. Journal of Children Orthopaedics.

Girisha, KM and Satyamoorthy, K (2012) Mucolipidosis Type II a/b With a Homozygous Missense Mutation in the GNPTAB Gene. American Jornal of Medical Genetics Part-A, 158-A. pp. 1225-1228.

Girisha, KM and Aroor, Shrikiran and Bidchol, Abdul Mueed and Puthiya, Gopinath Mundyat and Satyamoorthy, K (2012) Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type. Indian Journal of Human Genetics, 18 (3). pp. 346-348.

Adiga, Prashanth and Rai, Lavanya and Girisha, KM and Mundkur, Anjali (2012) Placental Teratoma Presenting as a LobulatedMass behind the Neck of Fetus: A CaseReport. Case Reports in Obstetrics and Gynecology, 2012. pp. 1-2.

Nayak, SS and Adiga, PK and Rai, Lavanya and Girisha, KM (2012) Severe Rhizomelic Chondrodysplasia Punctata in a Fetus due to Maternal Mixed Connective Tissue Disorder. Genetic Counseling, 23 (4). pp. 487-491.

Kodandapani, Sreelakshmi and Shetty, Jyothi and Kumar, Pratap and Girisha, KM (2012) Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence. Journal of Pediatric Genetics, 1 (1). pp. 59-61.

Neetha, J and Girisha, KM and Gopinath, PM and Sekhar, MR (2012) A de Novo Translocation of Chromosomes 1 and 2 in an 18 Year old boy with Syndromic Mental Retardation. GENETIC COUNSELING, 23 (4). pp. 473-476.

Vasudevan, TG and Saadi, Abdul Vahab and Girisha, KM and Gopinath, PM and Satyamoorthy, K (2011) Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) for Aneuploidy Detection. Genetic Clinics, 4 (2). pp. 1-18.

Saadi, Abdul Vahab and Girisha, KM and Puthiya, Gopinath M and Satyamoorthy, K (2011) Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of beta thalassemia. Translational Research, 157 (3). pp. 150-155. (Submitted)

Girisha, KM and Thanvanthri, Gururajan Vasudevan and Saadi, Abdul Vahab and Shah, Hitesh and Puthiya, Gopinath M and Satyamoorthy, K (2011) Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations. Clinical Dysmorphology, 20 (4). pp. 205-209.

Shah, Hitesh and Singh, Gurinder and Vijayan, Sandeep and Girisha, KM (2011) Second Report of Slipped Capital Femoral Epiphysis in Rubinstein–Taybi Syndrome. Clinical Dysmorphology, 20 (1). (Submitted)

Girisha, KM and Rajasekhar, M and Gopinath, PM and Satyamoorthy, K (2010) Balanced Translocation in Mother Leading to Interchange Trisomy 21? Genetic Counseling, 21 (2). pp. 183-185.

Girisha, KM and Saadi, Abdul Vahab and Dalal, Ashwin B and Gopinath, PM and Satyamoorthy, K (2010) Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis. Ann Hematol, 89. pp. 625-626.

Girisha, KM and Lewis, Leslie and Phadke, Shubha R and Kutsche, Kerstin (2010) Costello Syndrome With Severe Cutis Laxa and Mosaic HRAS G12S Mutation. American Journal of Medical Genetics. pp. 2861-2864.

Lewis, Leslie and Bhat, Ramesh Y and Naik, Prashant and Sethi, Kanchan and Girisha, KM (2010) Opsismodysplasia. Indian J Pediatr, 77 (5). pp. 567-568. (Submitted)

Adiga, Satish Kumar and Kalthur, Guruprasad and Kumar, P and Girisha, KM (2010) Preimplantation diagnosis of genetic diseases. Journal of Postgraduate Medicine, 56 (4). pp. 317-320. (Submitted)

Girisha, KM and Bhat, PV and Adiga, PK and Pai, AH and Rai, Lavanya (2010) Unusual Facial Cleft in Fryns Syndrome: Defect of Stomodeum? Genetic Counseling, 21 (2). pp. 233-236.

Girisha, KM and Ganesh, HK and Rao, Lakshmi and Srilatha, PS (2009) Massive Cranial Osteolysis, Skin Changes, Growth Retardation and Developmental Delay: Gorham Syndrome With Systemic Manifestations? American Journal of Medical Genetics, 152A. pp. 759-763.

Girisha, KM and Nayak, Shalini S and Shukla, Anju and Bhat, SK (2005) Alobar holoprosencephaly, cleft lip/palate, urorectal septum malformation sequence and congenital perineal hernia in a fetus. Genetic Counseling, 26 (3). pp. 321-325.

Girisha, KM Galactosemia. In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 402-403.

Girisha, KM Gaucher Disease. In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 404-405.

This list was generated on Mon May 10 03:47:56 2021 UTC.