Research & Publications

Presentation in Conferences:

  1. Invited as speaker to talk over Genetics & its Application (Emphasis on treatable LSD) in RAJPEDICON 2019” 29th November 2019 to 1st December 2019 at Jaipur.
  2. One of the organiser of Symposium over MPS – Diagnosis and management on 11 Dec 2019
  3. Invited as speaker in panel discussion in Westzone Neocon 2019 on 04th-06th Oct. 2019 at Jaipur .
  4. Poster presentation in Westzone Neocon 2019 titled Hypotonia:diagnostic approach .
  5. Invited as guest speaker by Kota IAP to talk over Genetic testing and Skeletal dysplasia, Oct 2019
  6. Invited as speaker by FOGSI branch of Agra to talk over Genetics and pregnancy , April 2019
  7. Poster presentation in ISIEM , Pune Jan 2019 titled Screening of sick newborn for inborn error of metabolism by tandem mass spectrometry
  8. Active member in organizing committee of PIDCON 2018(Primary immunodeficiency diseases national conference held on 10-11th March Jaipur.
  9. Faculty talk over MPS diseases in Genetic and rare diseases in Medical practice: How to recognize and manage, Feb 2018 in Jaipur
  10. Poster presentation in 3rd South Asia and 19th Asia LSD symposium from 20th – 22nd April 2018 in New Delhi titled
    • Skeletal manifestations in Gaucher Disease type 1
    • Mucopolyscharidosis
  11. Poster presentation in annual conference of Indian Radiological and imaging association, at Jaipur in January 2017, titled” Schmid type of Metaphyseal Chondrodysplasia: phenotype and genotype features.
  12. Oral presentation in birth defect conference at New Delhi, Nov. 2016, titled ‘Lethal osteogenesis imperfect: Recurrence in an Indian family’.
  13. Organised preconference Genetic workshop titled “Genetic Disorders: Clinical and laboratory diagnosis and management” on 27 Nov 2015 in 1st International conference on rare disease at Jaipur.
  14. Awarded second place in the poster presentation in 1st International conference on rare disease at Jaipur, Nov. 2015, titled “Genotypically confirmed Stickler syndrome with unusual eye findings”.
  15. Poster presentation in 1st International conference on rare disease at Jaipur, Nov. 2015, titled ‘Apert syndrome with preaxial polydactyly: An unusual feature’.
  16. Faculty talk on Cancer Genetics in 1st International conference on rare disease at Jaipur, Nov 2015
  17. Poster presentation in INASL 2014 at Jaipur “Glycogen storage disease type 1a: potentially treatable and often missed-a series of 3 patients”
  18. Awarded second place in the poster presentation “molecular diagnosis of infantile neuroaxonal dystrophy by next generation sequencing” in the international conference on Next revolution in Genetics & Genomics applications in health and disease Jan 2013 at New Delhi.
  19. Oral Presentation on Genetics in GI cancer at Gastroenterology department, GB Pant hospital.
  20. Poster presentation in the international conference IEMCON April 2013 at New Delhi titled “Dihydropterine Reductase Deficiency In Two Brothers – Detected On Dried Blood Spot”
  21. Poster presentation in the ISNS Asia Pacific Newborn screening conference at New Delhi, September 2013, titled “Glucose 6 Phosphate Dehydrogenase (G6PD) Enzyme Deficiency Detected In Newborn Screening: A 2-Year Data From A Tertiary Care Centre In India”
  22. Oral presentation in the Second International Conference of the Society of Fetal Medicine, Sept. 2013 at Hyderabad “Indian Experience Of Predicting Adverse Pregnancy Outcome In Patients With Low Pregnancy Associated Plasma Protein”

Specific Achievements:

  1. Received education grant in Asia Pacific digestive week (APDW 2019) conference at Kolkata 12-15 Dec2019 for best abstract.
  2. Invited as speaker to talk over MPS Perspective in India in 1st Asia/Middle EastMPS Preceptorship Program. 18-19 Oct 2018, Taipei Taiwan.
  3. Facilitated by Rajasthan medical council for her work and research papers on Genetics. July 2017

Publications:

2014

  1. Goyal M, Singh A, Singh P, Kapoor S. Hypoglossia- Hypodactyly Syndrome with Short Stature – A Case Report. J Clin Diagn Res. 2014 Apr;8(4)
  2. Singh A, Goyal M, Kumar S, Kress W, Kapoor S.Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation. Indian J Pediatr. 2014 Apr 6.
  3. Goyal M, Pradhan G, Wieland I, Kapoor S. Craniofrontonasal syndrome: Atrial septal defect with a novel EFNB1 mutation. Cleft Palate Craniofac J. 2014 Jun 11.
  4. Goyal M, Bijarnia-Mahay S, Kingsmore S, Farrow E, Saunders C, Saxena R, Verma IC. Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing. Indian J Pediatr. 2014 Oct 29.
  5. Goyal M, Mehndiratta S, Faruq M, Dwivedi MK, Kapoor S. Infantile onset alexander disease with normal head circumference: a genetically proven case report. J Clin Diagn Res. 2014 Nov;8(11). Manisha Goyal, Amit Garg, Simmi K Ratan, Seema Kapoor. Hematometrocolpos and ambiguous genitalia in an Indian girl with Axial Mesodermal dysplasia spectrum. Journal of Clinical Neonatology. 2014;3(4): 223-225.
  6. Manisha Goyal , Udhaya Kotecha, Ratna D Puri , Sanghamitra Datta , Chand Wattal , Renu Saxena , I C Verma. Case report “An entity which still occurs – Congenital Rubella Syndrome” in genetic Clinics ,Newsletter of Indian Academy of Medical Genetics Volume: 7 | Issue: 1 ( January – March 2014)
  7. Manisha Goyal, Amit Garg, Avinash Lomash, Seema Kapoor. Glycogen storage disease type 1a: potentially treatable and often missed-a series of 3 patients. journal of clinical and experimental hepatology. Volume 4, supplement 2, March 2014.

2015

  1. Singh A, Cuevas-Covarrubias S, Pradhan G, Gautam VK, Messina-Baas O, Gonzalez-Huerta LM, Goyal M, Kapoor S. Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis. Indian J Pediatr. 2015 May 82(5):471-3.
  2. Manisha Goyal, Gaurav Pradhan, Sunita Gupta, Seema Kapoor. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation. Contamporary clinical dentistry.2015; 6(1):110-112.
  3. Sangeeta Gupta, Manisha Goyal, Deepti Verma, Anjana Sharma, Namita Bharadwaj, Madhulika Kabra and Seema Kapoor.Adverse pregnancy outcome in patients with low pregnancy-associated plasma protein-A: The Indian Experience. J Obstet Gynaecol Res. 2015 Jul;41(7):1003-8.
  4. Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, and Joseph Gerard Gleeson. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Case Rep Pediatr. 2015;May 17.
  5. Manisha Goyal , Amit Garg, Mohan B. Goyal, Somesh Kumar, Siddharth Ramji, Seema Kapoor. Newborn Screening For G6PD Deficiency: A 2-Year Data From a tertiary care center in North India. Indian Journal of Public Health. 2015: 59(2);145-48.
  6. M Goyal, S Kapoor. True cyclopia. Journal of Clinical Neonatology, Year : 2015 | Volume : 4 | Issue : 1 | Page : 64-65.
  7. The diagnostic dilemma of Cutis laxa: a report of 2 cases with genotypic dissimilarity’ in Manisha Goyal, Ankur Singh, Uwe Kornak, Seema Kapoor. Indian Journal of Dermatology. 2015 Sep-Oct 60(5):521
  8. Sirenomelia- The Mairmaid syndrome. Manisha Goyal, Seema Kapoor. Journal of Clinical Neonatology. 2015:4(2); 147-148.
  9. Identification of a novel MKS locus defined by TMEM107 mutation. Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS. Hum Mol Genet. 2015 Sep 15;24(18):5211-8.
  10. Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N. Hum Genome Var. 2015 Sep 17;2:15034
  11. Late onset bladder outlet obstruction – Antenatal and postnatal imaging. Ashok Baijal,Nandita Dimri, , Nidhish Sharma, Manisha Goyal, Savitha Srirama Jayamma. Current Medicine Research and Practice.Volume 5, Issue 3, May–June 2015, 138–142.
  12. Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies. Pratima Dash, Ratna D Puri, Manisha Goyal, U. kotecha, IC Verma. Journal of Fetal Medicine. June 2015, Volume 2, Issue 2, pp 75–78.

2016

  1. Pallavi Sachdeva, Priyanka Minocha, Anita Choudhary, Sadasivan Sitaraman, Manisha Goyal. An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly . Journal of Pediatric and Neonatal Individualized Medicine 2016;5(2)
  2. Priyanka Minocha, Sadasivan Sitaraman and Manisha Goyal. Shprintzen-Goldberg syndrome presenting as generalised epilepsy in a child: A rare presentation. International Journal of Biomedical Research 2016; 7(6): 399-401. 399
  3. Manisha Goyal, Seema Kapoor, Shiro Ikegawa, and Gen Nishimura. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. Case Reports in Pediatrics.Volume 2016, Article ID 3198597, 3 pages.
  4. Goyal M, Gupta A, Sharma M, Mathur P, Bansal N. Fetal Valproate Syndrome with Limb Defects: An Indian Case Report. Case Rep Pediatr. 2016;2016.
  5. Naresh Bansal ,Ashok Gupta, Manisha Goyal, Manish Sharma, Priyanshu Mathur, Manish Agarwal. Oro Facial Digital Syndrome Type 2- An Indian case report.Journal of Pediatric Critical Care. 2016 | Volume : 3 | Issue : 4 | Page : 115-117.

2017

  1. Manisha Goyal, Ashok Gupta. Internet genetic resources for the clinicians. Rajasthan medical journal. 2017
  2. Dogra Luvdeep, Devpura Kusum, Goyal Manisha. Jarcho-Levin Syndrome: A rare case study Rajasthan medical journal. 2017
  3. Pallavi Sachdeva, Priyanka Minocha, Rohit Jain, Sadasivan Sitaraman, and Manisha Goyal. Proteus Syndrome with Neurological Manifestations: A Rare Presentation. J Pediatr Neurosci. 2017 Jan-Mar; 12(1): 109–111.

2018

  1. Hypohydrotic Ectodermal Dysplasia: A rare case series. Manisha Goyal, Ashok Gupta, Priyanshu Mathur, Manish Sharma, Vol. 5 – No.1 Jan-Mar. 2018 journal of pediatric critical care.
  2. Gupta R, Barolia DK, Goyal M. Congenital Hydrocephalus, Corpus Callosum Agenesis, and Prosencephalic Cyst with Supernumerary Nostril: A Neurocristopathy. Asian J Neurosurg. 2018 Oct-Dec;13(4):1239-1243.
  3. Gupta R, Sharma P, Shukla AK, Goyal M, Gupta A. Cloacal Malformation Variant in a Male Neonate. J Indian Assoc Pediatr Surg. 2018 Apr-Jun;23(2):106-108.

2019

  1. Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation. Manisha Goyal, Ashok Gupta, Seema Kapoor & Anu Bhandari. Indian Journal Of Pediatrics :Nov 2019.
  2. Genomics of rare genetic diseases- experiencesfrom India. Human Genomics. 2019 Sept; 25(14).
  3. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Sekiguchi F, et al. J Hum Genet 2019. Among authors: Goyal M.
  4. Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a. Karthi S, Sellamuthu Karthi, Paramasivam Manimaran , Perumal Varalakshmi, Ramaswamy Ganesh, SeemaKapoor, Manisha Goyal, Balasubramaniem Ashokkumar . Gene 2019.
  5. Karthi S, Manimaran P, Varalakshmi P, Ganesh R, Kapoor S, Goyal M, Ashokkumar B. Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a. Gene. 2019 Mar 16;700:7-16.
  6. Sheth J, Bhavsar R, Mistri M, Pancholi D, et al. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet. 2019 Feb 14;20(1):31. One of the author.
  7. Goyal M, Gupta A, Choudhary A, Bhandari A. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation. Indian J Pediatr. 2019 Feb;86(2):183-18.

2020

  1. Manisha Goyal, Ashok Gupta. Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre. Annalas of Indian Academy neurology Sept 2020
  2. Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim. 6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype– Phenotype Correlation. Journal Of Pediatric Genetics. November 8, 2020.
  3. Manisha Goyal, Ashok Gupta, Mohammed Faruq, Divya Shrivastava. An Indian infant with de novo duplication of 16p chromosome: A rare genetic syndrome. Indian Journal of of Medical Sciences. November 2020

2021

  1. Manisha Goyal, Ashok Gupta, Anu Bhandari, Mohammed Faruq. Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India. J Pediatr Genet. 2021
  2. Manisha Goyal, Ashok Gupta, Kamlesh Agarwal, Seema Kapoor, Somesh Kumar. Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India . Annals of Indian Academy of Neurology. 2021

2022

  1. Rahul Bhautara, Kamlesh Kumar Agarwal , Ashok Gupta, Manisha Goyal, Seema Kapoor. A Study of Sick Newborn for Inborn Error of Metabolism by Tandem Mass Spectrometry. Journal of Neonatology. 2022; 36(2): 125–129
  2. Goyal Manisha, Bharadia Lalit1, Gupta Ashok, Kotecha Udhaya H. The Diagnostic Dilemma of Rothmund-Thomson Syndrome Type II: A Rare Disorder with a Novel Mutation in the RECQL4 Gene in an Indian Boy. Indian Journal of Paediatric Dermatology 23(4):p 322-324, Oct–Dec 2022

BOOK CHAPTER:

  1. Chapter “Newborn Screening” in the textbook Pediatrics for Practitioner, released in Pedicon 2014.
  2. Chapter “Fatty acid oxidation defects” in the Postgraduate Textbook of Pediatric : Section 3 (editor- Piyush Gupta) released in Pedicon 2015.
  3. Chapter “Abnormal fetal parameters noted in second trimester ultrasound” in the book management guidelines for common obs and gyne conditions
  4. Cover story over rare disease in Health of India magzine.

2023

  1. Pranav Chand R, Phadke SR, Goyal M, Ranganath P, Mistri M, Shah P, Shah N, Kotecha UH. Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting. Eur J Med Genet. 2023 May;66(5):104730.
  2. Tuhina Nagpal, Manisha Goyal, Priyanshu Mathur,Kamlesh Kumar Agrawal ,Ashok Gupta. Screening for Pompe disease in high risk paediatric patients: experience from tertiary care centre, Rajasthan. 2023 Journal of Pediatric Neurology.

2024

  1. Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi et al. Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias. Clinical Genetics.2024;1–9.
  2. Rahul Gupta, Manisha Goyal, Ashok Gupta. Noonan syndrome: Clinical and molecular profile with review of literature. Saudi Journal for Health