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 von 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

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Lynch syndrome: An unusal case of familial cancer unearthed von Dhar, Subhra, Mannan, Ashraf, Singh, J, Dhar, Sandipan, Pradhan, Swetalina

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Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases von Sundaramurthy, Srilekha, Swaminathan, Meenakshi, Sen, Parveen, Arokiasamy, Tharigopala, Deshpande, Swati, John, Neetha, Gadkari, Rupali A, Mannan, Ashraf U, Soumittra, Nagasamy

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Oligomerization of ZFYVE27 (Protrudin) is necessary to promote neurite extension von Pantakani, D V Krishna, Czyzewska, Marta M, Sikorska, Anna, Bodda, Chiranjeevi, Mannan, Ashraf U

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Functional evaluation of paraplegin mutations by a yeast complementation assay von Bonn, Florian, Pantakani, Krishna, Shoukier, Moneef, Langer, Thomas, Mannan, Ashraf U

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Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders von 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

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Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia von SHOUKIER, Moneef, NEESEN, Juergen, SAUTER, Simone M, ARGYRIOU, Loukas, DOERWALD, Nadine, PANTAKANI, D. V. Krishna, MANNAN, Ashraf U

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Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology von 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

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Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice von 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

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Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia von Rangaraju, Advithi, Krishnan, Shuba, Aparna, G., Sankaran, Satish, Mannan, Ashraf U., Rao, B. Hygriv

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Mild expression differences of MECP2 influencing aggressive social behavior von 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

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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 von 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.

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Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent von Bhattacharya, Sudha, Khadilkar, Satish V., Nalini, Atchayaram, Ganapathy, Aparna, Mannan, Ashraf U., Majumder, Partha P., Bhattacharya, Alok

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Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives von Yesodharan, Dhanya, Krishnan, Vivek, Nair, Indu R., Ganapathy, Aparna, Mannan, Ashraf U., Nampoothiri, Sheela

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Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience von Mitta, Nandini, Menon, Ramshekhar N, McTague, Amy, Radhakrishnan, Ashalatha, Sundaram, Soumya, Cherian, Ajith, Madhavilatha, GK, Mannan, Ashraf U, Nampoothiri, Sheela, Thomas, Sanjeev V

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Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population von Sheth, Harsh, Pancholi, Dhairya, Bhavsar, Riddhi, Mannan, Ashraf, Ganapathy, Aparna, Chowdhury, Mayank, Shah, Sudhir, Solanki, Dhawal, Sheth, Frenny, Sheth, Jayesh

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Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families von Chandrasekharan, Soumya V., Nair, Sruthi S., Ganapathy, Aparna, Mannan, Ashraf U., Sundaram, Soumya

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Lipoprotein Lipase Deficiency von Kuthiroly, Shwetha, Yesodharan, Dhanya, Radhakrishnan, Natasha, Ganapathy, Aparna, Mannan, Ashraf U, Hoffmann, Michael M., Nampoothiri, Sheela

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Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients von 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.

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Mild Overexpression of Mecp2 in Mice Causes a Higher Susceptibility toward Seizures von Bodda, Chiranjeevi, Tantra, Martesa, Mollajew, Rustam, Arunachalam, Jayamuruga P, Laccone, Franco A, Can, Karolina, Rosenberger, Albert, Mironov, Sergej L, Ehrenreich, Hannelore, Mannan, Ashraf U

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