Researcher profile · Semantic Scholar

G. Ambegaonkar

h-index: 10
Works: 36
Citations: 499

Most-cited papers

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy
A. Mctague, U. Nair, Sony Malhotra, E. Meyer +25 more
2018Neurology107 citations Open access
Semantic Scholar
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy
A. Papandreou, A. Mctague, N. Trump, G. Ambegaonkar +4 more
2015Developmental Medicine & Child Neurology73 citations Open access
Semantic Scholar
Effectiveness and safety of Triac in children and adults with MCT8 deficiency: an international, multicentre, single group, open-label, phase 2 trial
Stefan Groeneweg, Robin P. Peeters, C. Moran, A. Stoupa +42 more
2019The Lancet Diabetes and Endocrinology70 citations Open access
Semantic Scholar
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy
A. Zambon, V. Ayyar Gupta, D. Ridout, A. Manzur +64 more
2022Developmental Medicine & Child Neurology41 citations Open access
Semantic Scholar
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong Joo Kim, P. Mohassel, S. Donkervoort, Lin Guo +54 more
2022Nature Communications36 citations Open access
Semantic Scholar
Growth pattern trajectories in boys with Duchenne muscular dystrophy
Georgia Stimpson, S. Raquq, M. Chesshyre, M. Fewtrell +41 more
2022Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
LOWER EXTREMITY HYPERMOBILITY, BUT NOT CORE MUSCLE ENDURANCE INFLUENCES BALANCE IN FEMALE COLLEGIATE DANCERS.
J. Ambegaonkar, N. Cortes, S. Caswell, G. Ambegaonkar +1 more
2016International Journal of Sports Physical Therapy23 citations
Semantic Scholar
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
A. Sanchis-Juan, Karyn Megy, J. Stephens, Camila Armirola Ricaurte +27 more
2023medRxiv21 citations Open access
Semantic Scholar
Structural mapping of GABRB3 variants reveals genotype-phenotype correlation
Kathrine M. Johannesen, S. Iqbal, M. Guazzi, Nazanin A. Mohammadi +44 more
2021medRxiv21 citations Open access
Semantic Scholar
The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.
G. Ambegaonkar, A. Manzur, S. Robb, M. Kinali +1 more
2011European journal of paediatric neurology16 citations
Semantic Scholar
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
N. Cornell, Anne-Marie Childs, E. Wraige, P. Munot +11 more
2024Journal of Neuromuscular Diseases10 citations Open access
Semantic Scholar
To pee or not to pee……
G. Ambegaonkar, R. Mulik
2007Archives of Disease in Childhood10 citations Open access
Semantic Scholar
Glycine receptor antibody-associated epilepsy in a boy aged 4 years
C. Ude, G. Ambegaonkar
2016BMJ Case Reports9 citations Open access
Semantic Scholar
Guillain-Barre syndrome: a review
N. Abbassi, G. Ambegaonkar
2019Paediatrics & child health8 citations
Semantic Scholar
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
K. Schon, O. Spasic-Boskovic, K. Brugger, T. Graves +4 more
2017Neurogenetics8 citations Open access
Semantic Scholar
P137 Growing up on biologics: a case report of development of NMDAr encephalitis in a young person with JIA on abatacept
R. Close, Peter Bale, Kathy Gallagher, G. Ambegaonkar +3 more
20204 citations
Semantic Scholar
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias +118 more
2025Nature Communications3 citations Open access
Semantic Scholar
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics
Luke Perry, S. Hogg, S. Bowdin, G. Ambegaonkar +1 more
2021Archives of Disease in Childhood3 citations Open access
Semantic Scholar
Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong-Joo Kim, P. Mohassel, S. Donkervoort, Lin Guo +54 more
2021medRxiv2 citations Open access
Semantic Scholar
Pyridoxine Dependent Epilepsy presenting as recurrent status epilepticus associated with febrile illness
G. Ambegaonkar, Nickolaos Cholidis
20172 citations
Semantic Scholar
Psychogenic non-epileptic seizures in childhood
Miranda Kingston-hepner, G. Ambegaonkar
20172 citations
Semantic Scholar
Fifteen minute consultation: an approach to the child with chronic headaches
Nichola Aspinall, A. D'Urso, G. Ambegaonkar
2017Archives of Disease in Childhood: Education & Practice Edition1 citations
Semantic Scholar
Acute necrotising encephalopathy of childhood: an uncommon cause of childhood encephalopathy with recognisable clinical and radiological features and genetic predisposition
Nicholas Schindler, G. Ambegaonkar
2016Archives of Disease in Childhood1 citations
Semantic Scholar
Treatable movement disorders in children
G. Ambegaonkar
2025Paediatrics & child health0 citations Open access
Semantic Scholar
A Child with CANDLE Syndrome Presenting as Seronegative Polyarthritis Following Early Chemotherapy.
Samantha Cooray, Alexander Wilson, E. Gerety, C. E. Hook +10 more
2025Rheumatology0 citations
Semantic Scholar
6696 Genetic mutations in Duchenne Muscular Dystrophy Children in East of England
A. Copeman, D. Krishnakumar, G. Ambegaonkar, Katrina Cousins
2024British Paediatric Neurology Association0 citations
Semantic Scholar
261 Quantifying deterioration of motor abilities in ambulant boys with Duchenne muscular dystrophy as a result of COVID-19 lockdowns
Jesse Edward Cohen Anthony, C. de Goede, Daniel S Ross, C. Morse +1 more
2023British Paediatric Neurology Association0 citations
Semantic Scholar
P111 Quantifying deterioration of motor abilities in ambulant boys with Duchenne muscular dystrophy as a result of COVID-19 lockdown
G. Ambegaonkar, J. Anthony, C. De Geode, C. Morse
2023Neuromuscular Disorders0 citations
Semantic Scholar
G318(P) Scn1a-related epilepsy: three different cases and a literature overview
T. Ratnaike, K. Moodley, A. Saraswatula, G. Ambegaonkar
2018Archives of Disease in Childhood0 citations Open access
Semantic Scholar
Cerebral cavernous malformation in the emergency department
C. Brittain, G. Ambegaonkar
20170 citations
Semantic Scholar
Post-traumatic seizure with an unexpected finding
C. Brittain, G. Ambegaonkar
2017Archives of Disease in Childhood: Education & Practice Edition0 citations
Semantic Scholar
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
K. Schon, O. Spasic-Boskovic, K. Brugger, T. Graves +4 more
2017Neurogenetics0 citations Open access
Semantic Scholar
Duchenne muscular dystrophy (4th edition), Alan Emery, Francesco Muntoni and Rosaline Quinlivan. Oxford University Press (2015). 320 pp., £60.00, ISBN 978-0-19-968148-8.
G. Ambegaonkar
20160 citations
Semantic Scholar
Neuromuscular disorders (2nd edition), Anthony A. Amato, James A. Russell. McGraw Hill Publishers (2015). 948 pp. Hardcover, $208.00, ISBN 978-0-07-175250-3.
G. Ambegaonkar
20160 citations
Semantic Scholar
G.P.13.15 Diagnosis and outcome of hypotonia in infancy
G. Ambegaonkar, S. Shah, H. Roper
20080 citations
Semantic Scholar
T.P.5.08 Vertebral fractures in corticosteroid-treated boys with Duchenne muscular dystrophy
G. Ambegaonkar, M. Kinali, F. Muntoni, S. Robb +1 more
20080 citations
Semantic Scholar

V. Straub

×4

G. Baranello×3

Deepak Parasuraman×3

E. Wraige×3

C. de Goede×3

D. Krishnakumar×3

P. Munot×3

Courtney E. French×3