Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India
Mannan, Ashraf U, Singh, Jaya, Lakshmikeshava, Ravikiran, Thota, Nishita, Singh, Suhasini, Sowmya, T S, Mishra, Avshesh, Sinha, Aditi, Deshwal, Shivani, Soni, Megha R, Chandrasekar, Anbukayalvizhi, Ramesh, Bhargavi, Ramamurthy, Bharat, Padhi, Shila, Manek, Payal, Ramalingam, Ravi, Kapoor, Suman, Ghosh, Mithua, Sankaran, Satish, Ghosh, Arunabha, Veeramachaneni, Vamsi, Ramamoorthy, Preveen, Hariharan, Ramesh, Subramanian, Kalyanasundaram
Published in Journal of human genetics (01.06.2016)
Published in Journal of human genetics (01.06.2016)
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Journal Article
Lynch syndrome: An unusal case of familial cancer unearthed
Dhar, Subhra, Mannan, Ashraf, Singh, J, Dhar, Sandipan, Pradhan, Swetalina
Published in Indian journal of pathology & microbiology (01.04.2022)
Published in Indian journal of pathology & microbiology (01.04.2022)
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Journal Article
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
Sundaramurthy, Srilekha, Swaminathan, Meenakshi, Sen, Parveen, Arokiasamy, Tharigopala, Deshpande, Swati, John, Neetha, Gadkari, Rupali A, Mannan, Ashraf U, Soumittra, Nagasamy
Published in Journal of human genetics (01.11.2016)
Published in Journal of human genetics (01.11.2016)
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Journal Article
Functional evaluation of paraplegin mutations by a yeast complementation assay
Bonn, Florian, Pantakani, Krishna, Shoukier, Moneef, Langer, Thomas, Mannan, Ashraf U
Published in Human mutation (01.05.2010)
Published in Human mutation (01.05.2010)
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Journal Article
Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders
Mahadevan, Jayant, Sud, Reeteka, Nadella, Ravi Kumar, Vani, Pulaparambil, Subramaniam, Anand G., Paul, Pradip, Ganapathy, Aparna, Mannan, Ashraf U., Chandru, Vijay, Viswanath, Biju, Purushottam, Meera, Jain, Sanjeev
Published in Indian journal of psychological medicine (01.09.2022)
Published in Indian journal of psychological medicine (01.09.2022)
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Journal Article
Oligomerization of ZFYVE27 (Protrudin) is necessary to promote neurite extension
Pantakani, D V Krishna, Czyzewska, Marta M, Sikorska, Anna, Bodda, Chiranjeevi, Mannan, Ashraf U
Published in PloS one (28.12.2011)
Published in PloS one (28.12.2011)
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Journal Article
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
SHOUKIER, Moneef, NEESEN, Juergen, SAUTER, Simone M, ARGYRIOU, Loukas, DOERWALD, Nadine, PANTAKANI, D. V. Krishna, MANNAN, Ashraf U
Published in European journal of human genetics : EJHG (01.02.2009)
Published in European journal of human genetics : EJHG (01.02.2009)
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Journal Article
Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology
Malhotra, Hemant, Kowtal, Pradnya, Mehra, Nikita, Pramank, Raja, Sarin, Rajiv, Rajkumar, Thangarajan, Gupta, Sudeep, Bapna, Ajay, Bhattacharyya, Gouri Shankar, Gupta, Sabhyata, Maheshwari, Amita, Mannan, Ashraf U, Reddy Kundur, Ravindra, Sekhon, Rupinder, Singhal, Manish, Smruti, B K, Sp, Somashekhar, Suryavanshi, Moushumi, Verma, Amit
Published in JCO global oncology (01.11.2020)
Published in JCO global oncology (01.11.2020)
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Journal Article
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia
Rangaraju, Advithi, Krishnan, Shuba, Aparna, G., Sankaran, Satish, Mannan, Ashraf U., Rao, B. Hygriv
Published in Indian pacing and electrophysiology journal (01.05.2018)
Published in Indian pacing and electrophysiology journal (01.05.2018)
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Journal Article
Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice
Böhm, Johann, Buck, Anja, Borozdin, Wiktor, Mannan, Ashraf U, Matysiak-Scholze, Uta, Adham, Ibrahim, Schulz-Schaeffer, Walter, Floss, Thomas, Wurst, Wolfgang, Kohlhase, Jürgen, Barrionuevo, Francisco
Published in The American journal of pathology (01.11.2008)
Published in The American journal of pathology (01.11.2008)
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Journal Article
Mild expression differences of MECP2 influencing aggressive social behavior
Tantra, Martesa, Hammer, Christian, Kästner, Anne, Dahm, Liane, Begemann, Martin, Bodda, Chiranjeevi, Hammerschmidt, Kurt, Giegling, Ina, Stepniak, Beata, Castillo Venzor, Aracely, Konte, Bettina, Erbaba, Begun, Hartmann, Annette, Tarami, Asieh, Schulz‐Schaeffer, Walter, Rujescu, Dan, Mannan, Ashraf U, Ehrenreich, Hannelore
Published in EMBO molecular medicine (01.05.2014)
Published in EMBO molecular medicine (01.05.2014)
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Journal Article
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations
Singh, Jaya, Thota, Nishita, Singh, Suhasini, Padhi, Shila, Mohan, Puja, Deshwal, Shivani, Sur, Soumit, Ghosh, Mithua, Agarwal, Amit, Sarin, Ramesh, Ahmed, Rosina, Almel, Sachin, Chakraborti, Basumita, Raina, Vinod, DadiReddy, Praveen K., Smruti, B. K., Rajappa, Senthil, Dodagoudar, Chandragouda, Aggarwal, Shyam, Singhal, Manish, Joshi, Ashish, Kumar, Rajeev, Kumar, Ajai, Mishra, Deepak K., Arora, Neeraj, Karaba, Aarati, Sankaran, Satish, Katragadda, Shanmukh, Ghosh, Arunabha, Veeramachaneni, Vamsi, Hariharan, Ramesh, Mannan, Ashraf U.
Published in Breast cancer research and treatment (01.07.2018)
Published in Breast cancer research and treatment (01.07.2018)
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Journal Article
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives
Yesodharan, Dhanya, Krishnan, Vivek, Nair, Indu R., Ganapathy, Aparna, Mannan, Ashraf U., Nampoothiri, Sheela
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience
Mitta, Nandini, Menon, Ramshekhar N, McTague, Amy, Radhakrishnan, Ashalatha, Sundaram, Soumya, Cherian, Ajith, Madhavilatha, GK, Mannan, Ashraf U, Nampoothiri, Sheela, Thomas, Sanjeev V
Published in Epilepsy research (01.10.2020)
Published in Epilepsy research (01.10.2020)
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Journal Article
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population
Sheth, Harsh, Pancholi, Dhairya, Bhavsar, Riddhi, Mannan, Ashraf, Ganapathy, Aparna, Chowdhury, Mayank, Shah, Sudhir, Solanki, Dhawal, Sheth, Frenny, Sheth, Jayesh
Published in Neurology India (01.11.2021)
Published in Neurology India (01.11.2021)
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Journal Article
Lipoprotein Lipase Deficiency
Kuthiroly, Shwetha, Yesodharan, Dhanya, Radhakrishnan, Natasha, Ganapathy, Aparna, Mannan, Ashraf U, Hoffmann, Michael M., Nampoothiri, Sheela
Published in Indian journal of pediatrics (01.02.2021)
Published in Indian journal of pediatrics (01.02.2021)
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Journal Article
Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing
Katragadda, Shanmukh, Hall, Taryn O, Bettadapura, Radhakrishna, Dalton, Joline C, Ganapathy, Aparna, Ghana, Pallavi, Hariharan, Ramesh, Janakiraman, Anand, Kotha, Kumar B V S S P, Manjunath, Ashwini, Mannan, Ashraf U, MS, Niveditha, Saraf, Shradha, Tzeng, Kathy T H, Veeramachaneni, Vamsi
Published in Clinical chemistry (Baltimore, Md.) (01.08.2021)
Published in Clinical chemistry (Baltimore, Md.) (01.08.2021)
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Journal Article
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
Ganapathy, Aparna, Mishra, Avshesh, Soni, Megha Rani, Kumar, Priyanka, Sadagopan, Mukunth, Kanthi, Anil Vittal, Patric, Irene Rosetta Pia, George, Sobha, Sridharan, Aparajit, Thyagarajan, T. C., Aswathy, S. L., Vidya, H. K., Chinnappa, Swathi M., Nayanala, Swetha, Prakash, Manasa B., Raghavendrachar, Vijayashree G., Parulekar, Minothi, Gowda, Vykuntaraju K., Nampoothiri, Sheela, Menon, Ramshekhar N., Pachat, Divya, Udani, Vrajesh, Naik, Neeta, Kamate, Mahesh, Devi, A. Radha Rama, Mohammed Kunju, P. A., Nair, Mohandas, Hegde, Anaita Udwadia, Kumar, M. Pradeep, Sundaram, Soumya, Tilak, Preetha, Puri, Ratna D., Shah, Krati, Sheth, Jayesh, Hasan, Qurratulain, Sheth, Frenny, Agrawal, Pooja, Katragadda, Shanmukh, Veeramachaneni, Vamsi, Chandru, Vijay, Hariharan, Ramesh, Mannan, Ashraf U.
Published in Journal of neurology (01.08.2019)
Published in Journal of neurology (01.08.2019)
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Journal Article