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Manisha Goyal

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
2019 · Futoshi Sekiguchi, Yoshinori Tsurusaki, et al. · Journal of Human Genetics · 75
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
2019 · Jayesh Sheth, Riddhi Bhavsar, et al. · BMC Medical Genetics · 68
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Identification of a novel MKS locus defined byTMEM107mutation
2015 · Ranad Shaheen, Agaadir Almoisheer, et al. · Human Molecular Genetics · 43
Newborn Screening for G6PD Deficiency: A 2-year Data from North India
2015 · Manisha Goyal, Amit Garg, et al. · Indian Journal of Public Health · 26
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
2015 · Eri Imagawa, Ryoko Fukai, et al. · Human Genome Variation · 14
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Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing
2014 · Manisha Goyal, Sunita Bijarnia-Mahay, et al. · The Indian Journal of Pediatrics · 12
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations
2016 · Manisha Goyal, Seema Kapoor, et al. · Case Reports in Pediatrics · 11
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Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation
2018 · Manisha Goyal, Ashok Gupta, et al. · The Indian Journal of Pediatrics · 10
Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis
2014 · Ankur Singh, Sergio Cuevas-Covarrubias, et al. · The Indian Journal of Pediatrics · 10
Lysosomal Storage Disorders
2021 · Manisha Goyal, Ashok Gupta · Annals of Indian Academy of Neurology · 8
Congenital hydrocephalus, corpus callosum agenesis, and prosencephalic cyst with supernumerary nostril: A neurocristopathy
2018 · Rahul Gupta, Dinesh Barolia, et al. · Asian Journal of Neurosurgery · 8
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The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity
2015 · Seema Kapoor, Manisha Goyal, et al. · Indian Journal of Dermatology · 8
Craniofrontonasal Syndrome: Atrial Septal Defect with a Novel EFNB1 Gene Mutation
2014 · Manisha Goyal, Gaurav Pradhan, et al. · The Cleft Palate-Craniofacial Journal · 8
Fetal Valproate Syndrome with Limb Defects: An Indian Case Report
2016 · Manisha Goyal, Ashok Gupta, et al. · Case Reports in Pediatrics · 7
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Cloacal malformation variant in a male neonate
2018 · Rahul Gupta, Pramila Sharma, et al. · Journal of Indian Association of Pediatric Surgeons · 6
Proteus syndrome with neurological manifestations: A rare presentation
2017 · Pallavi Sachdeva, Priyanka Minocha, et al. · Journal of Pediatric Neurosciences · 6
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
2015 · Rama Krishna Sanjeev, Seema Kapoor, et al. · Case Reports in Pediatrics · 6
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Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation
2015 · Manisha Goyal, Gaurav Pradhan, et al. · Contemporary Clinical Dentistry · 6
Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a
2019 · Sellamuthu Karthi, Paramasivam Manimaran, et al. · Gene · 5
Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies
2015 · Pratima Dash, Ratna Dua Puri, et al. · Journal of Fetal Medicine · 4
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Sirenomelia, the mermaid syndrome
2015 · Seema Kapoor, Manisha Goyal · Journal of Clinical Neonatology · 4
Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature
2022 · Manisha Goyal, Mohammed Faruq, et al. · Journal of Pediatric Neurology · 3
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India
2021 · Manisha Goyal, Ashok Gupta, et al. · Journal of Pediatric Genetics · 3
Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation
2019 · Manisha Goyal, Ashok Gupta, et al. · The Indian Journal of Pediatrics · 3
6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation
2021 · Manisha Goyal, Mohammed Faruq, et al. · Journal of Pediatric Genetics · 2
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Works count: 79
Citation count: 370
H-index: 9
I10-index: 9
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