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1. Full Text Genomics of rare genetic diseases-experiences from India
by Sivasubbu, S and GUaRDIAN Consortium and Scaria, V and Bajaj, A and Mathew, S and Vellarikkal, SK and Sivadas, A and Bhoyar, RC and Joshi, K and Jain, A and Mishra, A and Verma, A and Jayarajan, R and Nalini, A and Kumar, AR and Seeralar, ATA and Gupta, A and Srivastava, AK and Joshi, A and Sinha, A and Jandial, A and Khan, A and Sonakar, AK and Chandy, A and Sharma, A and Roy, A and Rawat, A and Biswas, A and Vanlalawma, A and Chaudhary, A and Chopra, A and Panday, A and Sabharwal, A and Mitra, A and Narang, A and Rajab, A and Kumar, A and Gurjar, AS and Ranawat, AS and Anu, RI and Tiwary, AK and Anuradha and Kalanad, A and Mathur, A and Lakshman, A and Batra, A and Bagga, A and Aggarwal, A and Rastogi, A and Aslam, PK and Astha, V and Nair, A and Athulya, EP and Chatterjee, A and Jindal, A and Kashyap, AK and Priyadarshini, B and Thapa, BR and Bhargava, B and Sharma, B and Jolly, B and Uppilli, BR and Balachander, B and Shankar, B and Kar, B and Binukumar, BK and Lalchhandama, C and Datar, C and Sachidanandan, C and Master, DC and Khera, D and Chowdhury, D and Danda, D and Kumar, D and Pandhi, D and Siddharthan, D and Sharma, D and Pachat, D and Vegulada, DR and Naidu, GSRSNK and Padma, G and Priya, GV and Sharma, G and Gauthamen, R and Govindaraj, G and Varghese, GM and Gireesh, S and Unnikrishnan, G and Hafiz, SA and Hazeena, KR and Dhiman, H and Singh, H and Sarkar, H and Ahmed, I and Menon, J and Goraya, J and Mathew, J and Thottath, J and Sahu, JK and Oswal, J and ... and The GUaRDIAN Consortium
HUMAN GENOMICS, ISSN 1473-9542, 09/2019, Volume 14, Issue 1, pp. 1 - 18
Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple... 
DIAGNOSIS | PROJECT | Diagnostics | Genomics | Zebrafish | POPULATIONS | Genetic diversity | MEDICAL GENETICS | EPIDERMOLYSIS-BULLOSA | PHARMACOGENETIC LANDSCAPE | IDENTIFICATION | Patient support | India | Rare disease | IPSCs | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | MUTATIONS | GUaRDIAN | PARKINSONS-DISEASE | Haplotypes | Genetic disorders | Disease | Genomes | Mitochondrial DNA | Metabolism | Medical screening | Population genetics | Data bases | Consortia | Genetic isolation | Computer applications | Population | Consanguinity | Diagnosis | Public health | Niches
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2. Full Text Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
by Ganapathy, Aparna and Mishra, Avshesh and Soni, Megha Rani and Kumar, Priyanka and Sadagopan, Mukunth and Kanthi, Anil Vittal and Patric, Irene Rosetta Pia and George, Sobha and Sridharan, Aparajit and Thyagarajan, T C and Aswathy, S L and Vidya, H K and Chinnappa, Swathi M and Nayanala, Swetha and Prakash, Manasa B and Raghavendrachar, Vijayashree G and Parulekar, Minothi and Gowda, Vykuntaraju K and Nampoothiri, Sheela and Menon, Ramshekhar N and Pachat, Divya and Udani, Vrajesh and Naik, Neeta and Kamate, Mahesh and Devi, A Radha Rama and Mohammed Kunju, P A and Nair, Mohandas and Hegde, Anaita Udwadia and Kumar, M Pradeep and Sundaram, Soumya and Tilak, Preetha and Puri, Ratna D and Shah, Krati and Sheth, Jayesh and Hasan, Qurratulain and Sheth, Frenny and Agrawal, Pooja and Katragadda, Shanmukh and Veeramachaneni, Vamsi and Chandru, Vijay and Hariharan, Ramesh and Mannan, Ashraf U
Journal of Neurology, ISSN 0340-5354, 8/2019, Volume 266, Issue 8, pp. 1919 - 1926
Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due... 
Multi-gene panel | Neurology | Neurosciences | Next-generation sequencing | Medicine & Public Health | Genetic testing | Neuroradiology | Neurological disorders | PANEL | DE-NOVO MUTATIONS | VARIANTS | RECURRENT | SENSITIVITY | UTILITY | CLINICAL NEUROLOGY | Usage | Diagnosis | Research | Mental illness | Genetic screening | Neurological diseases | Phenotypes | Leukodystrophy | Ataxia | Genetic diversity | Mutation | Dystrophy | Muscular dystrophy
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3. Full Text Detection of two intervening Ne viii absorbers probing warm gas at z ~ 0.6
by Pachat and S.;Narayanan and A.;Khaire and V.;Savage and B.D.;Muzahid and S.;Wakker and B.P
MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY (ISSN 0035-8711), ISSN 0035-8711, 2017, Volume 471, Issue 1, pp. 792 - 810
MNRAS, 471, 792 (2017) We report on the detection of two Ne VIII absorbers, at z = 0.61907 and z = 0.57052 in the HST/COS spectrum of background quasars SDSS J... 
Quasars: individual: SBS1122+594 | Intergalactic medium | Cosmology: observations | Ultraviolet: general | Galaxies: haloes | Quasars: absorption lines | Quasars: individual: SDSSJ080908.13+461925.6 | Physics - Astrophysics of Galaxies
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4. Full Text Detection of two intervening Ne VIII absorbers probing warm gas at Z similar to 0.6
by Pachat, S and Narayanan, A and Khaire, V and Savage, BD and Muzahid, S and Wakker, BP
MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, ISSN 0035-8711, 10/2017, Volume 471, Issue 1, pp. 792 - 810
We report on the detection of two Ne VIII absorbers, at z = 0.619 07 and 0.570 52 in the Hubble Space Telescope/Cosmic Origins Spectrograph spectrum of... 
quasars: individual: SBS 1122+594 | ABSORPTION-LINE SYSTEMS | quasars:individual: SDSS J080908.13+461925.6 | GRAVITATIONAL COLLAPSE | PHYSICAL CONDITIONS | quasars: absorption lines | intergalactic medium | LYMAN LIMIT | cosmology:observations | ultraviolet: general | COSMIC ORIGINS SPECTROGRAPH | LOW-REDSHIFT | ULTRAVIOLET-SPECTROSCOPIC-EXPLORER | O-VI | ASTRONOMY & ASTROPHYSICS | Z INTERGALACTIC MEDIUM | galaxies: haloes | LY-ALPHA FOREST
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5. Full Text A pair of OVI and broad Ly α absorbers probing warm gas in a galaxy group environment at z ~ 0.4
by Pachat, Sachin and Narayanan, Anand and Muzahid, Sowgat and Khaire, Vikram and Srianand, Raghunathan and Wakker, Bart P and Savage, Blair D
Monthly Notices of the Royal Astronomical Society, ISSN 0035-8711, 02/2016, Volume 458, Issue 1, pp. 733 - 746
Quasars: individual: sbs 0957+599 | Ultraviolet: general | Galaxies: haloes | Intergalactic medium | Quasars: absorption lines
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6. A pair of O?vi and broad Ly a absorbers probing warm gas in a galaxy group environment at z ~ 0.4
by Sachin Pachat and Anand Narayanan and Sowgat Muzahid and Vikram Khaire and Raghunathan Srianand and Bart P Wakker and Blair D Savage
Monthly Notices of the Royal Astronomical Society, ISSN 0035-8711, 05/2016, Volume 458, Issue 1, p. 733
  We report the detection of two O vi absorbers at z = 0.416 14 and 0.419...50 (|...| = 710 km s^sup -1^), towards SBS 0957+599. Both absorbers are multiphase... 
Gases | Temperature | Hydrogen | Stars & galaxies | Metals | Astronomy
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7. A pair of O?vi and broad Ly a absorbers probing warm gas in a galaxy group environment at z ~ 0.4
by Pachat, Sachin and Narayanan, Anand and Muzahid, Sowgat and Khaire, Vikram and Srianand, Raghunathan and Wakker, Bart P and Savage, Blair D
Monthly Notices of the Royal Astronomical Society, ISSN 0035-8711, 05/2016, Volume 458, Issue 1, pp. 733 - 733
We report the detection of two O vi absorbers at z = 0.416 14 and 0.419...50 (|...| = 710 km s super( -1)), towards SBS 0957+599. Both absorbers are multiphase... 
Galactic halos | Galaxies | Photoionization | Filaments | Symbols | Coolers | Baryons | Columns (structural)
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8. Full Text A pair of O vi and broad Ly α absorbers probing warm gas in a galaxy group environment atz∼ 0.4
by Pachat, Sachin and Narayanan, Anand and Muzahid, Sowgat and Khaire, Vikram and Srianand, Raghunathan and Wakker, Bart P and Savage, Blair D
Monthly Notices of the Royal Astronomical Society, ISSN 0035-8711, 05/2016, Volume 458, Issue 1, pp. 733 - 746
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9. Full Text A Pair of O VI and Broad Ly-alpha Absorbers Probing Warm Gas in a Galaxy Group Environment at z ~ 0.4
by Pachat, Sachin and Narayanan, Anand and Muzahid, Sowgat and Khaire, Vikram and Srianand, Raghunathan and Wakker, Bart P and Savage, Blair D
01/2016
MNRAS, 458, 733 (2016) We report on the detection of two O VI absorbers separated in velocity by 710 km/s at z ~ 0.4 towards the background quasar SBS0957+599.... 
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10. Full Text Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura
by Buket Basmanav, F and Fritz, Günter and Lestringant, Gilles G and Pachat, Divya and Hoffjan, Sabine and Fischer, Johannes and Wehner, Maria and Wolf, Sabrina and Thiele, Holger and Altmüller, Janine and Pulimood, Susanne A and Rütten, Arno and Kruse, Roland and Hanneken, Sandra and Frank, Jorge and Danda, Sumita and Bygum, Anette and Betz, Regina C
Journal of Investigative Dermatology, ISSN 0022-202X, 02/2015, Volume 135, Issue 2, pp. 615 - 618
O-FUCOSYL-TRANSFERASE | DERMATOLOGY | Fucosyltransferases - genetics | Skin Diseases, Papulosquamous - genetics | Humans | Middle Aged | Adult | Hyperpigmentation - genetics | Mutation | Skin Diseases, Genetic - genetics
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11. Full Text Molecular Characterization of a Novel Germline VHL Mutation by Extensive in Silico Analysis in an Indian Family with von Hippel-Lindau Disease
by Arunachal, Gautham and Pachat, Divya and Doss, C. George Priya and Danda, Sumita and Pai, Rekha and Ebenazer, Andrew
Genetics Research International, ISSN 2090-3154, 2016, Volume 2016, p. 9872594
Von Hippel-Lindau [VHL] disease, an autosomal dominant hereditary cancer syndrome, is well known for its complex genotype-phenotype correlations. We looked for... 
Gene mutations | Molecular dynamics | Genetic aspects | Research | Nucleotide sequencing | Health aspects | Glutamine | DNA sequencing | Von Hippel-Lindau disease
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