Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis

por Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M
Publicado 2016

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant

por Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
Publicado 2016

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

por Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Publicado 2018

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

por Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Publicado 2018

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin

por Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
Publicado 2017

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

por Shukla, Anju, Hebbar, Malavika, Srivastava, Anshika, Kadavigere, Rajagopal, Upadhyai, Priyanka, Kanthi, Anil, Brandau, Oliver, Bielas, Stephanie, Girisha, Katta M
Publicado 2017

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

por Udupa, Prajna, Ghosh, Debasish Kumar, Kausthubham, Neethukrishna, Shah, Hitesh, Bartakke, Sandip, Dalal, Ashwin, Girisha, Katta M, Bhavani, Gandham SriLakshmi
Publicado 2022

The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging

por Ghosh, Debasish Kumar, Pande, Shruti, Kumar, Jeevan, Yesodharan, Dhanya, Nampoothiri, Sheela, Radhakrishnan, Periyasamy, Reddy, Chilakala Gangi, Ranjan, Akash, Girisha, Katta M.
Publicado 2022

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

por Cannaerts, Elyssa, Shukla, Anju, Hasanhodzic, Mensuda, Alaerts, Maaike, Schepers, Dorien, Van Laer, Lut, Girisha, Katta M., Hojsak, Iva, Loeys, Bart, Verstraeten, Aline
Publicado 2018

Exome Sequencing in Monogenic Forms of Rickets

por Jacob, Prince, Bhavani, Gandham SriLakshmi, Udupa, Prajna, Wang, Zheng, Hariharan, Sankar V., Delampady, Kishan, Dalal, Ashwin, Kamath, Nutan, Ikegawa, Shiro, Shenoy, Rathika D., Handattu, Koushik, Shah, Hitesh, Girisha, Katta M.
Publicado 2023

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

por Schnabel, Franziska, Schuler, Elisabeth, Al-Maawali, Almundher, Chaurasia, Ankur, Syrbe, Steffen, Al-Kindi, Adila, Bhavani, Gandham SriLakshmi, Shukla, Anju, Altmüller, Janine, Nürnberg, Peter, Banka, Siddharth, Girisha, Katta M., Li, Yun, Wollnik, Bernd, Yigit, Gökhan
Publicado 2023

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

por Lashkari, Harsha Prasada, Madkaikar, Manisha, Dalvi, Aparna, Gupta, Maya, Bustamante, Jacinta, Sharma, Madhubala, Rawat, Amit, Bhatia, Prateek, Bhat, Kamalakshi G., Rao, Sadashiva, Kamath, Nutan, Moideen, Faheem, Latour, Sylvain, Winter, Sarah, Bhavani, Gandham SriLakshmi, Girisha, Katta M.
Publicado 2021

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

por Jacob, Prince, Lindelöf, Hillevi, Rustad, Cecilie F., Sutton, Vernon Reid, Moosa, Shahida, Udupa, Prajna, Hammarsjö, Anna, Bhavani, Gandham SriLakshmi, Batkovskyte, Dominyka, Tveten, Kristian, Dalal, Ashwin, Horemuzova, Eva, Nordgren, Ann, Tham, Emma, Shah, Hitesh, Merckoll, Else, Orellana, Laura, Nishimura, Gen, Girisha, Katta M., Grigelioniene, Giedre
Publicado 2023

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

por Verheyen, Sarah, Blatterer, Jasmin, Speicher, Michael R, Bhavani, Gandham SriLakshmi, Boons, Geert-Jan, Ilse, Mai-Britt, Andrae, Dominik, Sproß, Jens, Vaz, Frédéric Maxime, Kircher, Susanne G, Posch-Pertl, Laura, Baumgartner, Daniela, Lübke, Torben, Shah, Hitesh, Al Kaissi, Ali, Girisha, Katta M, Plecko, Barbara
Publicado 2022

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

por Sheth, Jayesh, Bhavsar, Riddhi, Mistri, Mehul, Pancholi, Dhairya, Bavdekar, Ashish, Dalal, Ashwin, Ranganath, Prajnya, Girisha, Katta M, Shukla, Anju, Phadke, Shubha, Puri, Ratna, Panigrahi, Inusha, Kaur, Anupriya, Muranjan, Mamta, Goyal, Manisha, Ramadevi, Radha, Shah, Raju, Nampoothiri, Sheela, Danda, Sumita, Datar, Chaitanya, Kapoor, Seema, Bhatwadekar, Seema, Sheth, Frenny
Publicado 2019

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

por Guo, Long, Iida, Aritoshi, Bhavani, Gandham SriLakshmi, Gowrishankar, Kalpana, Wang, Zheng, Xue, Jing-yi, Wang, Juan, Miyake, Noriko, Matsumoto, Naomichi, Hasegawa, Takanori, Iizuka, Yusuke, Matsuda, Masashi, Nakashima, Tomoki, Takechi, Masaki, Iseki, Sachiko, Yambe, Shinsei, Nishimura, Gen, Koseki, Haruhiko, Shukunami, Chisa, Girisha, Katta M., Ikegawa, Shiro
Publicado 2021

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

por Nayak, Shalini S., Schneeberger, Pauline E., Patil, Siddaramappa J., Arun, Karegowda M., Suresh, Pujar V., Kiran, Viralam S., Siddaiah, Sateesh, Maiya, Shreesha, Venkatachalagupta, Shrikanth K., Kausthubham, Neethukrishna, Kortüm, Fanny, Rau, Isabella, Wey-Fabrizius, Alexandra, Van Den Heuvel, Lotte, Meester, Josephina, Van Laer, Lut, Shukla, Anju, Loeys, Bart, Girisha, Katta M., Kutsche, Kerstin
Publicado 2021

Genome sequencing in families with congenital limb malformations

por Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elçioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, André, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Türkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hülsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
Publicado 2021

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

por Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre
Publicado 2021

Genomic and phenotypic delineation of congenital microcephaly

por Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S.
Publicado 2018