Sheela Nampoothiri (S Nampoothiri)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 38

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Nature communications

Indian journal of pediatrics

Amrita Institute of Medical Sciences and Research Centre

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Amrita Institute of Medical Sciences and Research Centre

India

Clinical Professor :: Pediatric Genetics

Publications

Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG 32 (8) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG 32 (8) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG 32 (8) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG 32 (8) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Hanna M Ollila, Eilon Sharon, Ling Lin, Nicholas A Sinnott-Armstrong, Aditya Ambati, Selina M Yogeshwar, Ryan P Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J Martínez-Orozco, Rosa Peraita-Adrados, Antonio Benetó, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, null null, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Högl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Lukrécia Mertová, Mia Wadelius, Niclas Eriksson, Hans Smedje, Pär Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte Rahbek Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel A Rivas, Jonathan K Pritchard, Neil Risch, Zoltán Kutalik, Ruth O'Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel Jean-Marie Mignot
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nature communications 14 (1) (2023)
Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B L Yatheesha, Siddaramappa J Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh Bhat Y, Leslie E Lewis, Suvasini Sharma, Shruti Bajaj, Naveen Sankhyan, Shahyan Siddiqui, Shalini S Nayak, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. European journal of human genetics : EJHG (2023)
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko Yamamoto, Emma Armstrong Schindler, Zayd Al Rawi, Nina Wallace, Jonathan J Wilde, Jennifer McCallum, Jinglan Liu, Dongbin Xu, Marie Jackson, Stefan Rentas, Ahmad Abou Tayoun, Zhang Zhe, Omar A Abdul-Rahman, Bill Allen, Moris A Angula, Kwame Anyane-Yeboa, Jesús Argente, Pamela H Arn, Linlea Armstrong, Lina Basel-Salmon, Gareth Baynam, Lynne M Bird, Daniel Bruegger, Gaik-Siew Ch'ng, David Chitayat, Robin Clark, Gerald F Cox, Usha Dave, Elfrede DeBaere, Michael Field, John M Graham, Karen W Gripp, Robert Greenstein, Neerja Gupta, Randy Heidenreich, Jodi Hoffman, Robert J Hopkin, Kenneth L Jones, Marilyn C Jones, Ariana Kariminejad, Jillene Kogan, Baiba Lace, Julian Leroy, Sally Ann Lynch, Marie McDonald, Kirsten Meagher, Nancy Mendelsohn, Ieva Micule, John Moeschler, Sheela Nampoothiri, Kaoru Ohashi, Cynthia M Powell, Subhadra Ramanathan, Salmo Raskin, Elizabeth Roeder, Marlene Rio, Alan F Rope, Karan Sangha, Angela E Scheuerle, Adele Schneider, Stavit Shalev, Victoria Siu, Rosemarie Smith, Cathy Stevens, Tinatin Tkemaladze, John Toimie, Helga Toriello, Anne Turner, Patricia G Wheeler, Susan M White, Terri Young, Kathleen M Loomes, Mary Pipan, Ann Tokay Harrington, Elaine Zackai, Ramakrishnan Rajagopalan, Laura Conlin, Matthew A Deardorff, Deborah McEldrew, Juan Pie, Feliciano Ramos, Antonio Musio, Antonie D Kline, Kosuke Izumi, Sarah E Raible, Ian D Krantz
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. American journal of medical genetics. Part A (2023)
Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B L Yatheesha, Siddaramappa J Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh Bhat Y, Leslie E Lewis, Suvasini Sharma, Shruti Bajaj, Naveen Sankhyan, Shahyan Siddiqui, Shalini S Nayak, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. European journal of human genetics : EJHG (2023)
Hanna M Ollila, Eilon Sharon, Ling Lin, Nicholas A Sinnott-Armstrong, Aditya Ambati, Selina M Yogeshwar, Ryan P Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J Martínez-Orozco, Rosa Peraita-Adrados, Antonio Benetó, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, null null, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Högl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Lukrécia Mertová, Mia Wadelius, Niclas Eriksson, Hans Smedje, Pär Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte Rahbek Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel A Rivas, Jonathan K Pritchard, Neil Risch, Zoltán Kutalik, Ruth O'Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel Jean-Marie Mignot
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nature communications 14 (1) (2023)
Hanna M Ollila, Eilon Sharon, Ling Lin, Nicholas A Sinnott-Armstrong, Aditya Ambati, Selina M Yogeshwar, Ryan P Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J Martínez-Orozco, Rosa Peraita-Adrados, Antonio Benetó, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, null null, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Högl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Lukrécia Mertová, Mia Wadelius, Niclas Eriksson, Hans Smedje, Pär Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte Rahbek Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel A Rivas, Jonathan K Pritchard, Neil Risch, Zoltán Kutalik, Ruth O'Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel Jean-Marie Mignot
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nature communications 14 (1) (2023)
Debasish Kumar Ghosh, Shruti Pande, Jeevan Kumar, Dhanya Yesodharan, Sheela Nampoothiri, Periyasamy Radhakrishnan, Chilakala Gangi Reddy, Akash Ranjan, Katta Mohan Girisha
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging. Aging cell 21 (11) (2022)
Debora Tibbe, Pia Ferle, Christoph Krisp, Sheela Nampoothiri, Ghayda M Mirzaa, Melissa Assaf, Sumit Parikh, Kerstin Kutsche, Hans-Jürgen Kreienkamp
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain. Life science alliance 5 (10) (2022)
Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B Kang, Kerstin Kutsche
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. European journal of human genetics : EJHG 30 (4) (2022)
Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Rao Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S Geetha, Meenakshi Bhat
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India. Journal of medical genetics (2022)
Sheela Nampoothiri, Jeanne Maria Dsouza, Dhanya Yesodharan, Katta Mohan Girisha, Malini Eapen, Sajitha Sivasankaran Nair, Bhanu Vikraman Pillai, Periyasamy Radhakrishnan
A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies. Clinical genetics (2022)
Neerja Gupta, Ravneet Kaur, Shubha Rao Phadke, Pankaj Sharma, Sheela Nampoothiri, Deepti Saxena, Madhulika Kabra
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients. American journal of medical genetics. Part A 188 (4) (2022)
Barbara Vona, D A Schwartzbaum, A A Rodriguez, S S Lewis, M B Toosi, P Radhakrishnan, Nazim Bozan, Ramazan Akın, M Doosti, R Manju, Duygu Duman, C J Sineni, Sheela Nampoothiri, E G Karimiani, Henry Houlden, Güney Bademci, Mustafa Tekin, Katta Mohan Girisha, Reza Maroofian, Sofia Douzgou Houge
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (9) (2022)
Delfien Syx, Yoshihiro Ishikawa, Jan M Gebauer, Sergei P Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B Gould, Ulrich Baumann, Hans Peter Bächinger, Fransiska Malfait
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta. PLoS genetics 17 (2) (2021)
Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Human mutation 42 (6) (2021)
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, Suvasini Sharma, Narayanaswamy Suresh, Sheela Nampoothiri, Michelle C do Rosario, Puneeth H Somashekar, Lakshmi Priya Rao, Neethukrishna Kausthubham, Purvi Majethia, Shruti Pande, Y Ramesh Bhat, Aroor Shrikiran, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling. European journal of human genetics : EJHG 29 (12) (2021)
Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A Prada-Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti-Furga
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852) (2021)
Shwetha Kuthiroly, Dhanya Yesodharan, Natasha Radhakrishnan, Aparna Ganapathy, Ashraf U Mannan, Michael M Hoffmann, Sheela Nampoothiri
Lipoprotein Lipase Deficiency. Indian journal of pediatrics 88 (2) (2020)
Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia-Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD reports 56 (1) (2020)
Dhanya Yesodharan, Vivek Krishnan, Indu R Nair, Aparna Ganapathy, Ashraf U Mannan, Sheela Nampoothiri
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives. American journal of medical genetics. Part A 185 (2) (2020)
Piranit Nik Kantaputra, Lachlan J Smith, Margret L Casal, Chulaluck Kuptanon, Yu-Cheng Chang, Sheela Nampoothiri, Apichai Paiyarom, Thanat Veerasakulwong, Objoon Trachoo, James R Ketudat Cairns, Wannapa Chinadet, Pranoot Tanpaiboon
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. American journal of medical genetics. Part A 179 (3) (2019)
Anju Shukla, Katta Mohan Girisha, Puneeth H Somashekar, Sheela Nampoothiri, Rebecca McClellan, Hilary J Vernon
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. American journal of medical genetics. Part A 179 (5) (2019)
Dhanya Yesodharan, Uta Meyer Zum Büschenfelde, Kerstin Kutsche, K Mohandas Nair, Sheela Nampoothiri
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum. Indian journal of pediatrics 85 (12) (2018)

Sheela Nampoothiri.css-eqlu8i{font-size:small;padding-left:4px;} (S Nampoothiri)

Publication Activity (10 Years)

Top Topics

Top Venues

Sheela Nampoothiri (S Nampoothiri)