Dhanya Yesodharan

Affiliations

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India.

Publications (14)

Turner syndrome in diverse populations.

American journal of medical genetics. Part A

Avec: Paul Kruszka , Yonit A Addissie , Cedrik Tekendo-Ngongang , Kelly L Jones , Sarah K Savage , Neerja Gupta , Nirmala D Sirisena , Vajira H W Dissanayake , C Sampath Paththinige , Teresa Aravena , Sheela Nampoothiri , Dhanya Yesodharan , Katta M Girisha , Siddaramappa Jagdish Patil , Saumya Shekhar Jamuar , Jasmine Chew-Yin Goh , Agustini Utari , Nydia Sihombing , Rupesh Mishra , Neer Shoba Chitrakar , Brenda C Iriele , Ezana Lulseged , Andre Megarbane , Annette Uwineza , Elizabeth Eberechi Oyenusi , Oluwarotimi Bolaji Olopade , Olufemi Adetola Fasanmade , Milagros M Duenas-Roque , Meow-Keong Thong , Joanna Y L Tung , Gary T K Mok , Nicole Fleischer , Godfrey M Rwegerera , María Beatriz de Herreros , Johnathan Watts , Karen Fieggen , Victoria Huckstadt , Angélica Moresco , María Gabriela Obregon , Dalia Farouk Hussen , Neveen A Ashaat , Engy A Ashaat , Brian H Y Chung , Eben Badoe , Sultana M H Faradz , Mona O El Ruby , Vorasuk Shotelersuk , Ambroise Wonkam , Ekanem Nsikak Ekure , Shubha R Phadke , Antonio Richieri-Costa , Maximilian Muenke

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.

American journal of medical genetics. Part A

Avec: Dhanya Yesodharan , Vivek Krishnan , Indu R Nair , Aparna Ganapathy , Ashraf U Mannan , Sheela Nampoothiri

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Brain : a journal of neurology

Avec: Pauline E Schneeberger , Sheela Nampoothiri , Tess Holling , Dhanya Yesodharan , Malik Alawi , A S Knisely , Thomas Müller , Barbara Plecko , Andreas R Janecke , Kerstin Kutsche

Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

Clinical rheumatology

Avec: Sumita Danda , Sony Mohan , Prabavathi Devaraj , Atanu K Dutta , Sheela Nampoothiri , Dhanya Yesodharan , Shubha R Phadke , Anil B Jalan , K Thangaraj , Ishwar Chandra Verma , Debashish Danda , Isaac Jebaraj

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

European journal of human genetics : EJHG

Avec: 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

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

American journal of medical genetics. Part A

Avec: Sheela Nampoothiri , Brecht Guillemyn , Nursel Elcioglu , Sujatha Jagadeesh , Dhanya Yesodharan , Beena Suresh , Serap Turan , Sofie Symoens , Fransiska Malfait

Lipoprotein Lipase Deficiency.

Indian journal of pediatrics

Avec: Shwetha Kuthiroly , Dhanya Yesodharan , Natasha Radhakrishnan , Aparna Ganapathy , Ashraf U Mannan , Michael M Hoffmann , Sheela Nampoothiri

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

JIMD reports

Avec: 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

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

Journal of human genetics

Avec: Antonia Howaldt , Sheela Nampoothiri , Dhanya Yesodharan , Suhas Udayakumaran , Pramod Subash , Uwe Kornak

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Clinical dysmorphology

Avec: Sheela Nampoothiri , Nursel H Elcioglu , Suleyman S Koca , Dhanya Yesodharan , Chandrababu Kk , Vinod Krishnan , Meenakshi Bhat , Mohandas Nair K , Natasha Radhakrishnan , Mahesh Kappanayil , Jayesh J Sheth , Sandra Alves , Francisca Coutinho , Michael J Friez , Richard M Pauli , Sheila Unger , Andrea Superti-Furga , Jules G Leroy , Sara S Cathey

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Human molecular genetics

Avec: Elena Botta , Arjan F Theil , Anja Raams , Giuseppina Caligiuri , Sarah Giachetti , Silvia Bione , Maria Accadia , Anita Lombardi , Desiree E C Smith , Marisa I Mendes , Sigrid M A Swagemakers , Peter J van der Spek , Gajja S Salomons , Jan H J Hoeijmakers , Dhanya Yesodharan , Sheela Nampoothiri , Tomoo Ogi , Alan R Lehmann , Donata Orioli , Wim Vermeulen

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

Aging cell

Avec: Debasish Kumar Ghosh , Shruti Pande , Jeevan Kumar , Dhanya Yesodharan , Sheela Nampoothiri , Periyasamy Radhakrishnan , Chilakala Gangi Reddy , Akash Ranjan , Katta M Girisha

Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).

Hormones (Athens, Greece)

Avec: Ana Monteiro , Praveen V Pavithran , Manuprasad Puthukulangara , Nisha Bhavani , Sheela Nampoothiri , Dhanya Yesodharan , Reshma Kumaran

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

European journal of human genetics : EJHG

Avec: Lisa G Riley , Subrata Sabui , Hamid M Said , Aram Niaz , Katta M 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

Réseau de co-auteurs

Sheela Nampoothiri 14 collaborations

Katta M Girisha 3 collaborations

Periyasamy Radhakrishnan 3 collaborations

Neerja Gupta 2 collaborations

Shubha R Phadke 2 collaborations

Aparna Ganapathy 2 collaborations

Ashraf U Mannan 2 collaborations

Pauline E Schneeberger 2 collaborations

Tess Holling 2 collaborations

Malik Alawi 2 collaborations

Kerstin Kutsche 2 collaborations

Sumita Danda 2 collaborations

Sujatha Jagadeesh 2 collaborations

Natasha Radhakrishnan 2 collaborations

Meenakshi Bhat 2 collaborations

Paul Kruszka 1 collaboration

Yonit A Addissie 1 collaboration

Cedrik Tekendo-Ngongang 1 collaboration

Kelly L Jones 1 collaboration

Sarah K Savage 1 collaboration

Nirmala D Sirisena 1 collaboration

Vajira H W Dissanayake 1 collaboration

C Sampath Paththinige 1 collaboration

Teresa Aravena 1 collaboration

Siddaramappa Jagdish Patil 1 collaboration

Saumya Shekhar Jamuar 1 collaboration

Jasmine Chew-Yin Goh 1 collaboration

Agustini Utari 1 collaboration

Nydia Sihombing 1 collaboration

Rupesh Mishra 1 collaboration

Neer Shoba Chitrakar 1 collaboration

Brenda C Iriele 1 collaboration

Ezana Lulseged 1 collaboration

Andre Megarbane 1 collaboration

Annette Uwineza 1 collaboration

Elizabeth Eberechi Oyenusi 1 collaboration

Oluwarotimi Bolaji Olopade 1 collaboration

Olufemi Adetola Fasanmade 1 collaboration

Milagros M Duenas-Roque 1 collaboration

Meow-Keong Thong 1 collaboration

Joanna Y L Tung 1 collaboration

Gary T K Mok 1 collaboration

Nicole Fleischer 1 collaboration

Godfrey M Rwegerera 1 collaboration

María Beatriz de Herreros 1 collaboration

Johnathan Watts 1 collaboration

Karen Fieggen 1 collaboration

Victoria Huckstadt 1 collaboration

Angélica Moresco 1 collaboration

María Gabriela Obregon 1 collaboration

Dalia Farouk Hussen 1 collaboration

Neveen A Ashaat 1 collaboration

Engy A Ashaat 1 collaboration

Brian H Y Chung 1 collaboration

Eben Badoe 1 collaboration

Sultana M H Faradz 1 collaboration

Mona O El Ruby 1 collaboration

Vorasuk Shotelersuk 1 collaboration

Ambroise Wonkam 1 collaboration

Ekanem Nsikak Ekure 1 collaboration

Antonio Richieri-Costa 1 collaboration

Maximilian Muenke 1 collaboration

Vivek Krishnan 1 collaboration

Indu R Nair 1 collaboration

A S Knisely 1 collaboration

Thomas Müller 1 collaboration

Barbara Plecko 1 collaboration

Andreas R Janecke 1 collaboration

Sony Mohan 1 collaboration

Prabavathi Devaraj 1 collaboration

Atanu K Dutta 1 collaboration

Anil B Jalan 1 collaboration

K Thangaraj 1 collaboration

Ishwar Chandra Verma 1 collaboration

Debashish Danda 1 collaboration

Isaac Jebaraj 1 collaboration

Bedirhan Tarhan 1 collaboration

Kollencheri Puthenveettil Vinayan 1 collaboration

Arun Grace Roy 1 collaboration

Lindsay Rhodes 1 collaboration

Katta Mohan Girisha 1 collaboration

Peter B Kang 1 collaboration

Brecht Guillemyn 1 collaboration

Nursel Elcioglu 1 collaboration

Beena Suresh 1 collaboration

Serap Turan 1 collaboration

Sofie Symoens 1 collaboration

Fransiska Malfait 1 collaboration

Shwetha Kuthiroly 1 collaboration

Michael M Hoffmann 1 collaboration

Amrita Bhattacherjee 1 collaboration

Hisham Ahamed 1 collaboration

Ratna Dua Puri 1 collaboration

Madhulika Kabra 1 collaboration

Prajnya Ranganath 1 collaboration

Shubha Phadke 1 collaboration

Akella Radha Rama Devi 1 collaboration

Padmavathy Narayana Sylaja 1 collaboration

Kausik Mandal 1 collaboration

Sunita Bijarnia-Mahay 1 collaboration

Ravinder Makkar 1 collaboration

Ishwar Chander Verma 1 collaboration

Ashwin Dalal 1 collaboration

Uma Ramaswami 1 collaboration

Antonia Howaldt 1 collaboration

Suhas Udayakumaran 1 collaboration

Pramod Subash 1 collaboration

Uwe Kornak 1 collaboration

Nursel H Elcioglu 1 collaboration

Suleyman S Koca 1 collaboration

Chandrababu Kk 1 collaboration

Vinod Krishnan 1 collaboration

None Mohandas Nair K 1 collaboration

Mahesh Kappanayil 1 collaboration

Jayesh J Sheth 1 collaboration

Sandra Alves 1 collaboration

Francisca Coutinho 1 collaboration

Michael J Friez 1 collaboration

Richard M Pauli 1 collaboration

Sheila Unger 1 collaboration

Andrea Superti-Furga 1 collaboration

Jules G Leroy 1 collaboration

Sara S Cathey 1 collaboration

Elena Botta 1 collaboration

Arjan F Theil 1 collaboration

Anja Raams 1 collaboration

Giuseppina Caligiuri 1 collaboration

Sarah Giachetti 1 collaboration

Silvia Bione 1 collaboration

Maria Accadia 1 collaboration

Anita Lombardi 1 collaboration

Desiree E C Smith 1 collaboration

Marisa I Mendes 1 collaboration

Sigrid M A Swagemakers 1 collaboration

Peter J van der Spek 1 collaboration

Gajja S Salomons 1 collaboration

Jan H J Hoeijmakers 1 collaboration

Tomoo Ogi 1 collaboration

Alan R Lehmann 1 collaboration

Donata Orioli 1 collaboration

Wim Vermeulen 1 collaboration

Debasish Kumar Ghosh 1 collaboration

Shruti Pande 1 collaboration

Jeevan Kumar 1 collaboration

Chilakala Gangi Reddy 1 collaboration

Akash Ranjan 1 collaboration

Ana Monteiro 1 collaboration

Praveen V Pavithran 1 collaboration

Manuprasad Puthukulangara 1 collaboration

Nisha Bhavani 1 collaboration

Reshma Kumaran 1 collaboration

Lisa G Riley 1 collaboration

Subrata Sabui 1 collaboration

Hamid M Said 1 collaboration

Aram Niaz 1 collaboration

Tatjana Kilo 1 collaboration

Janine Smith 1 collaboration

Rachel S H Wong 1 collaboration

Manoj P Menezes 1 collaboration

Sachin Gupta 1 collaboration

Sandra T Cooper 1 collaboration

Shanti Balasubramaniam 1 collaboration