Publications

The centre publishes research findings in leading peer-reviewed scientific journals, reflecting its collaborative strengths across clinical genomics, molecular biology, and functional model systems. These studies focus on improving the diagnosis and biological understanding of rare genetic disorders, particularly within the Indian population.

The published work includes the discovery of novel disease-causing genes and pathogenic variants, functional validation using patient-derived cellular systems and animal models, and the application of multi-omics approaches to elucidate complex disease mechanisms. Collectively, these contributions add significant value to the global rare disease research community and strengthen India’s capacity in genomic medicine and translational science.

Below is a list of publications highlighting the centre’s recent research and collaborative outputs.

2025

1.      Ramarajan MG Garapati K, Ghose V, Pandey A. Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. Clin Proteomics. 2025 Nov 24;22(1):44. doi: 10.1186/s12014-025-09562-4. PMID: 41286670; PMCID: PMC12641947.
2.      Kandettu A, Yeole M, Sekar H, Garapati K, Kaur N, Anand A, Hegde P, Nair K, Medishetti R, Bhat V, Radhakrishnan P, Mundkur SC, Shrikiran HA, Pandey A, Sevilimedu A, Chakrabarty S, Shukla A. Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish. Eur J Hum Genet. 2025 Nov;33(11):1451-1461. doi: 10.1038/s41431-025-01858-1. Epub 2025 May 13. PMID: 40360742; PMCID: PMC12583485.

3.      Oza PS, Uttarilli A, Shreya Parthasarathi KT, Viswanathan S, Sharma J, V S K, Patil SJ. Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant. J Hum Genet. 2025 Oct 24. doi: 10.1038/s10038-025-01415-0. Epub ahead of print. PMID: 41136760.

4.      Shravya MS, Purushothama G, Radhakrishnan P, Hebbar M, Guruvare S, Mathew M, Bhavani GS, Bajaj S, Girisha KM, Shukla A, Nayak SS. Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome. Am J Med Genet A. 2025 Aug;197(8):e64086. doi: 10.1002/ajmg.a.64086. Epub 2025 Apr 12. PMID: 40219868; PMCID: PMC7617616.

5.      Shirodkar AN, Akhil KA, Bhat V, Shah H, Shukla A, Periyasamy R. Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family. Clin Dysmorphol. 2025 Jul 1;34(3):102-106. doi: 10.1097/MCD.0000000000000520. Epub 2025 May 28. PMID: 40073198; PMCID: PMC7617595.

6.      Ishorst N, Hölzel S, Greve C, Yilmaz Ö, Lindenberg T, Lambertz J, Drichel D, Zametica B, Mingardo E, Kalanithy JC, Channab K, Kibris D, Henne S, Degenhardt F, Siewert A, Dixon M, Kruse T, Ongkosuwito E, Girisha KM, Pande S, Nowak S, Hagelueken G, Geyer M, Carels C, van Rooij IALM, Ludwig KU, Odermatt B, Mangold E. Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models. Eur J Hum Genet. 2025 May;33(5):595-606. doi: 10.1038/s41431-024-01775-9. Epub 2024 Dec 19. PMID: 39702590; PMCID: PMC7617551.

7.      Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM. Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia. Eur J Hum Genet. 2025 May;33(5):607-613. doi: 10.1038/s41431-024-01776-8. Epub 2024 Dec 20. PMID: 39706863; PMCID: PMC7617588.

8.      Shravya MS, Chaurasia A, Girisha KM, Nayak SS. Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence. Clin Dysmorphol. 2025 Apr 1;34(2):25-31. doi: 10.1097/MCD.0000000000000517. Epub 2025 Jan 10. PMID: 39807604; PMCID: PMC7617632.

9.      Radhakrishnan P, Quadri N, Erger F, Fuhrmann N, Geist OM, Netzer C, Khyriem I, Muranjan M, Udani V, Yeole M, Mascarenhas S, Limaye S, Siddiqui S, Upadhyai P, Shukla A. Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder. Clin Genet. 2025 Mar;107(3):311-322. doi: 10.1111/cge.14663. Epub 2024 Dec 5. PMID: 39638757; PMCID: PMC11790379.

10.  Kaur N, do Rosario MC, Majethia P, Mascarenhas S, Rao LP, Nair KV, Hunakunti B, Prasannakumar AP, Naik R, Narayanan DL, Nayak SS, Bhat V, Sharma S, Ramesh Bhat Y, Yatheesha BL, Kulkarni R, Patil SJ, Nampoothiri S, Siddiqui S, Girisha KM, Bielas S, Shukla A. Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population. Am J Med Genet A. 2025 Mar;197(3):e63914. doi: 10.1002/ajmg.a.63914. Epub 2024 Oct 29. PMID: 39470296; PMCID: PMC7617591.

11.  Yeole M, Majethia P, Siddiqui S, Girisha KM, Shukla A, Radhakrishnan P, Bhat V. Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome. Am J Med Genet A. 2025 Feb;197(2):e63892. doi: 10.1002/ajmg.a.63892. Epub 2024 Sep 27. PMID: 39333057; PMCID: PMC7617585.

12.  Singh S, Danda S, Sharma N, Shah H, Madhuri V, Mir TA, Padala NZ, Medishetti R, Ekbote A, Bhavani GS, Sevilimedu A, Girisha KM. Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia. Eur J Hum Genet. 2025 Jan;33(1):30-37. doi: 10.1038/s41431-024-01725-5. Epub 2024 Nov 6. PMID: 39506047; PMCID: PMC11711675.

13.  Kakar N, Mascarenhas S, Ali A, Azmatullah, Ijlal Haider SM, Badiger VA, Ghofrani MS, Kruse N, Hashmi SN, Pozojevic J, Balachandran S, Toft M, Malik S, Händler K, Fatima A, Iqbal Z, Shukla A, Spielmann M, Radhakrishnan P. Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities. Hum Genet. 2025 Jan;144(1):55-65. doi: 10.1007/s00439-024-02718-6. Epub 2024 Dec 21. PMID: 39708122; PMCID: PMC11754320.

2024

14.  Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. PMID: 38114583; PMCID: PMC7616498.

15.  Singh S, Badiger VA, Balan S, Nampoothiri S, Rao AP, Shah H, Bhavani GS, Narayanan DL, Girisha KM. Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Clin Dysmorphol. 2024 Oct 1;33(4):152-159. doi: 10.1097/MCD.0000000000000500. Epub 2024 Mar 22. PMID: 38856641; PMCID: PMC7617550.

16.  Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A. N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. Glycobiology. 2024 Sep 30;34(11):cwae076. doi: 10.1093/glycob/cwae076. PMID: 39360848; PMCID: PMC7617596.

17.  Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM. Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. Am J Med Genet A. 2024 Aug;194(8):e63601. doi: 10.1002/ajmg.a.63601. Epub 2024 Apr 2. PMID: 38562122; PMCID: PMC7616131.

18.  Budhraja R, Joshi N, Radenkovic S, Kozicz T, Morava E, Pandey A. Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts. Proteomics. 2024 Aug;24(15):e2400012. doi: 10.1002/pmic.202400012. Epub 2024 Mar 12. PMID: 38470198; PMCID: PMC7616334.

19.  Rani R, Sri NS, Medishetti R, Chatti K, Sevilimedu A. Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome. Hum Mol Genet. 2024 Aug 6;33(16):1391-1405. doi: 10.1093/hmg/ddae077. PMID: 38710511; PMCID: PMC7616351.

20.  Bellad A, Rangiah K, Sathe G, Dey G, Appadorai PK, Lokanatha H, Murthy PR, Gowdra A, Pandey A. Identification of a rare [^Gγ(^Aγδβ)⁰] -thalassemia using tandem mass spectrometry. Proteomics. 2024 Jul;24(14):e2300495. doi: 10.1002/pmic.202300495. Epub 2024 Jan 11. PMID: 38212249; PMCID: PMC7616216.

21.  Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. PMID: 38374498; PMCID: PMC7615923.

22.  Garapati K, Jain A, Madden BJ, Mun DG, Sharma J, Budhraja R, Pandey A. Defining albumin as a glycoprotein with multiple N-linked glycosylation sites. J Transl Med. 2024 May 13;22(1):454. doi: 10.1186/s12967-024-05000-5. PMID: 38741158; PMCID: PMC11090807.

23.  Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. PMID: 38587076; PMCID: PMC7615924.

24.  Khade OS, Sasidharan S, Jain A, Maradani BS, Chatterjee A, Gopal D, Ravi Kumar RK, Krishnakumar S, Pandey A, Janakiraman N, Elchuri SV, Gundimeda S. Identification of dysregulation of sphingolipids in retinoblastoma using liquid chromatography-mass spectrometry. Exp Eye Res. 2024 Mar;240:109798. doi: 10.1016/j.exer.2024.109798. Epub 2024 Jan 19. PMID: 38246332; PMCID: PMC7617138.

2023

25.  Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. PMID: 37993442; PMCID: PMC10665555.

26.  Jacob P, Bhavani GS, Udupa P, Wang Z, Hariharan SV, Delampady K, Dalal A, Kamath N, Ikegawa S, Shenoy RD, Handattu K, Shah H, Girisha KM. Exome Sequencing in Monogenic Forms of Rickets. Indian J Pediatr. 2023 Dec;90(12):1182-1190. doi: 10.1007/s12098-022-04393-9. Epub 2023 Jan 24. PMID: 36692815; PMCID: PMC10627992.

27.  Khurana H, Muthusamy B, Yanamandra U, Garapati K, Premdeep H, Subramanian S, Pandey A. Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis. OMICS. 2023 Jul;27(7):299-304. doi: 10.1089/omi.2023.0059. Epub 2023 Jul 11. PMID: 37428608; PMCID: PMC10357103.

28.  Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. PMID: 36779427; PMCID: PMC10081954.

29.  Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Hum Genet. 2023 Apr;142(4):543-552. doi: 10.1007/s00439-023-02528-2. Epub 2023 Mar 21. PMID: 36943452; PMCID: PMC10060356.

30.  Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM. Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence. Am J Med Genet A. 2023 Mar;191(3):730-741. doi: 10.1002/ajmg.a.63067. Epub 2022 Dec 7. PMID: 36478354; PMCID: PMC7615864.

31.  Ghosh DK, Udupa P, Shrikondawar AN, Bhavani GS, Shah H, Ranjan A, Girisha KM. Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX. Matrix Biol. 2023 Jan;115:81-106. doi: 10.1016/j.matbio.2022.12.001. Epub 2022 Dec 14. PMID: 36526215; PMCID: PMC7615836.

32.  Udupa P, Shrikondawar AN, Nayak SS, Shah H, Ranjan A, Girisha KM, Bhavani GS, Ghosh DK. Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166741. doi: 10.1016/j.bbadis.2023.166741. Epub 2023 May 3. PMID: 37146916; PMCID: PMC7616376.

33.  Udupa P, Ghosh DK, Kausthubham N, Shah H, Bartakke S, Dalal A, Girisha KM, Bhavani GS. Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis. J Hum Genet. 2023 Apr;68(4):287-290. doi: 10.1038/s10038-022-01104-2. Epub 2022 Dec 16. PMID: 36526684; PMCID: PMC10040338.

2022

34.  Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. PMID: 36150098; PMCID: PMC7615863.

35.  Shravya MS, Mathew M, Vasudeva A, Girisha KM, Nayak SS. A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Clin Genet. 2023 Jan;103(1):127-129. doi: 10.1111/cge.14237. Epub 2022 Oct 9. PMID: 36210633; PMCID: PMC7616377.

36.  Ghosh DK, Pande S, Kumar J, Yesodharan D, Nampoothiri S, Radhakrishnan P, Reddy CG, Ranjan A, Girisha KM. The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging. Aging Cell. 2022 Nov;21(11):e13688. doi: 10.1111/acel.13688. Epub 2022 Oct 12. PMID: 36225129; PMCID: PMC9649601.

37.  Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. PMID: 35864190; PMCID: PMC7615854.