Developmental delay and assessment in an infant with PCWH syndrome: A case report

Authors: Kumar, Ashna, Rosario, Michelle, Siddiqui, Shahyan, Garg, Divyani, Shukla, Anju, Sharma, Suvasini

Source: Annals of movement disorders. 6(2):96-99

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194777655.0x000001&indx=1&recIds=ETOCvdc_100194777655.0x000001

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

Authors: do Rosario, Michelle C., Purushothama, Greeshma, Narayanan, Dhanya Lakshmi, Siddiqui, Shahyan, Girisha, Katta Mohan, Shukla, Anju

Source: Clinical dysmorphology. 32(3):112-115

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191473372.0x000001&indx=1&recIds=ETOCvdc_100191473372.0x000001

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy

Authors: Pande, Shruti, Mascarenhas, Selinda, Venkatraman, Aishwarya, Bhat, Vivekananda, Narayanan, Dhanya Lakshmi, Siddiqui, Shahyan, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju

Source: American journal of medical genetics.Part A. 191(8):2175-2180

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191123799.0x000001&indx=1&recIds=ETOCvdc_100191123799.0x000001

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

Authors: Majethia, Purvi, Do Rosario, Michelle C., Kaur, Parneet, Shankar, Raagul, Sharma, Suvasini, Siddiqui, Shahyan, Shukla, Anju

Source: Annals of human genetics. 86(2):94-101

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141089115.0x000001&indx=1&recIds=ETOCvdc_100141089115.0x000001

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Authors: Kaur, Namanpreet¹, do Rosario, Michelle C.¹, Majethia, Purvi¹, Mascarenhas, Selinda¹, Rao, Lakshmi Priya¹, Nair, Karthik Vijay¹, Hunakunti, Bhagesh¹, Prasannakumar, Adarsh Pooradan¹, Naik, Rohit¹, Narayanan, Dhanya Lakshmi¹, Nayak, Shalini S.¹, Bhat, Vivekananda¹, Sharma, Suvasini², Ramesh Bhat, Y.³, Yatheesha, B. L.⁴, Kulkarni, Rajesh⁵, Patil, Siddaramappa J.⁶, Nampoothiri, Sheela⁷, Siddiqui, Shahyan⁸, Girisha, Katta Mohan^1,9

Source: American Journal of Medical Genetics. Part A; Mar2025, Vol. 197 Issue 3, p1-11, 11p

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Authors: Radhakrishnan, Periyasamy, Quadri, Neha, Erger, Florian, Fuhrmann, Nico, Geist, Otilia‐Maria, Netzer, Christian, Khyriem, Ibakordor, Muranjan, Mamta, Udani, Vrajesh, Yeole, Mayuri, Mascarenhas, Selinda, Limaye, Sanket, Siddiqui, Shahyan, Upadhyai, Priyanka, Shukla, Anju

Source: Clinical Genetics; Mar2025, Vol. 107 Issue 3, p311-322, 12p

Subject Terms: NEUROLOGICAL disorders, CILIOPATHY, CENTROSOMES, CILIA & ciliary motion, PROTEINS, NUCLEOTIDE sequencing, GENETIC variation

Bi‐Allelic Splicing Variant, c.153‐2A > C in TOMM7 Is Associated With Leigh Syndrome.

Authors: Yeole, Mayuri¹, Majethia, Purvi¹, Siddiqui, Shahyan², Girisha, Katta Mohan^1,3, Shukla, Anju¹, Radhakrishnan, Periyasamy¹, radhakrishna.periyasamy@gmail.com, Bhat, Vivekananda¹, bhat.vivekananda@manipal.edu

Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-6, 6p

Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

Authors: Majethia, Purvi, Bhat, Vivekananda, Yatheesha, B.L., Siddiqui, Shahyan, Shukla, Anju

Source: In European Journal of Medical Genetics June 2022 65(6)

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

Authors: Narayanan, Dhanya Lakshmi, Majethia, Purvi, Shrikiran, Aroor, Siddiqui, Shahyan, Dalal, Ashwin, Shukla, Anju

Source: In European Journal of Medical Genetics January 2022 65(1)

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Authors: Werren, Elizabeth A^1,2, Bey, Guillermo Rodriguez³, Majethia, Purvi⁴, Kaur, Parneet⁴, Patil, Siddaramappa J⁵, Kekatpure, Minal V⁶, Afenjar, Alexandra⁷, Qebibo, Leila^7,8, Burglen, Lydie^7,8, Tomoum, Hoda⁹, Demurger, Florence¹⁰, Duborg, Christele¹¹, Siddiqui, Shahyan¹², Tsan, Yao-Chang¹, Abdullah, Uzma¹³, Ali, Zafar¹⁴, Saadi, Saadia Maryam¹⁵, Baig, Shahid Mahmood^16,17, Houlden, Henry¹⁸, Maroofian, Reza¹⁸

Source: Brain: A Journal of Neurology; Dec2024, Vol. 147 Issue 12, p4033-4042, 10p

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Authors: Mascarenhas, Selinda, Yeole, Mayuri, Rao, Lakshmi Priya, do Rosario, Michelle C., Majethia, Purvi, Nair, Karthik Vijay, Sharma, Suvasini, Barala, Praveen Kumar, Puri, Ratna Dua, Pal, Swasti, Siddiqui, Shahyan, Shukla, Anju

Source: Clinical Dysmorphology; Oct2024, Vol. 33 Issue 4, p160-166, 7p

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

Authors: Pande, Shruti, Majethia, Purvi, Nair, Karthik, Rao, Lakshmi Priya, Mascarenhas, Selinda, Kaur, Namanpreet, do Rosario, Michelle C., Neethukrishna, Kausthubham, Chaurasia, Ankur, Hunakunti, Bhagesh, Jadhav, Nalesh, Xavier, Sruthy, Kumar, Jeevan, Bhat, Vivekananda, Bhavani, Gandham SriLakshmi, Narayanan, Dhanya Lakshmi, Yatheesha, B. L., Patil, Siddaramappa J., Nampoothiri, Sheela, Kamath, Nutan, Aroor, Shrikiran, Bhat Y, Ramesh, Lewis, Leslie E., Sharma, Suvasini, Bajaj, Shruti, Sankhyan, Naveen, Siddiqui, Shahyan, Nayak, Shalini S., Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju

Source: European Journal of Human Genetics: EJHG; October 2024, Vol. 32 Issue: 10 p1291-1298, 8p

Traumatic Pseudoaneurysm of Middle Meningeal Artery with Delayed Presentation as Intracerebral Hematoma: A Report with Review of Literature.

Authors: Kulanthaivelu, Karthik¹ (AUTHOR), Siddiqui, Shahyan¹ (AUTHOR), Prasad, Chandrajit¹ (AUTHOR), Shashidhar, Abhinith² (AUTHOR), Siddiqui, Shahyan Mohsin³ (AUTHOR)

Source: Neurology India. Nov/Dec2021, Vol. 69 Issue 6, p1820-1823. 4p.

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1gene causing fucosidosis in an Indian family

Authors: do Rosario, Michelle C., Purushothama, Greeshma, Narayanan, Dhanya Lakshmi, Siddiqui, Shahyan, Girisha, Katta Mohan, Shukla, Anju

Source: Clinical Dysmorphology; July 2023, Vol. 32 Issue: 3 p112-115, 4p

Computed tomography coronary angiography diagnosis of single right coronary artery with congenital absence of left coronary artery system equivalents

Authors: Siddiqui, Shahyan, Kesava Rao, R, Kaza, Sashidhar, Padma Kumar, E

Source: Indian journal of radiology and imaging. 26(2):198-200

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088413182.0x000001&indx=1&recIds=ETOCvdc_100088413182.0x000001

Embolectomy by SOLUMBRA Technique for Nontarget Intracranial Glue Migration- Complication and Bailout after Percutaneous Embolization of Orbital Meningioma.

Authors: Chauhan, Richa, Prasad, Chandrajit, Siddiqui, Shahyan, Srinivas, Dwarakanath, Chauhan, Richa Singh, Siddiqui, Shahyan M

Source: Neurology India; Nov/Dec2021, Vol. 69 Issue 6, p1767-1771, 5p

Subject Terms: ONCOLOGIC surgery, THERAPEUTIC embolization, EMBOLISMS, VASCULAR surgery, CEREBRAL arteries, MENINGIOMA, MENINGES

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Authors: Rosario, Michelle C do¹, Bey, Guillermo Rodriguez², Nmezi, Bruce², Liu, Fang², Oranburg, Talia², Cohen, Ana S A^3,4,5, Coffman, Keith A⁶, Brown, Maya R⁷, Kiselyov, Kirill⁷, Waisfisz, Quinten⁸, Flohil, Myrthe T⁹, Siddiqui, Shahyan¹⁰, Rosenfeld, Jill A^11,12, Iglesias, Alejandro¹³, Girisha, Katta Mohan¹, Wolf, Nicole I¹⁴, Padiath, Quasar Saleem^2,15, qpadiath@pitt.edu, Shukla, Anju¹, anju.shukla@manipal.edu

Source: Brain: A Journal of Neurology; Dec2022, Vol. 145 Issue 12, p4202-4209, 8p

Systemic inflammatory syndrome in COVID-19-SISCoV study: systematic review and meta-analysis.

Authors: Dhar, Debjyoti, Dey, Treshita, Samim, M. M., Padmanabha, Hansashree, Chatterjee, Aritra, Naznin, Parvin, Chandra, S. R., Mallesh, K., Shah, Rutul, Siddiqui, Shahyan, Pratik, K., Ameya, P., Abhishek, G.

Source: Pediatric Research; May2022, Vol. 91 Issue 6, p1334-1349, 16p

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

Authors: Siddiqui, Shahyan, Polavarapu, Kiran, Bardhan, Mainak, Preethish-Kumar, Veeramani, Joshi, Aditi, Nashi, Saraswati, Vengalil, Seena, Raju, Sanita, Chawla, Tanushree, Leena, Shingavi, Mathur, Aradhana, Nayak, Sushmita, Mohan, Dhaarini, Shamim, Uzma, Prasad, Chandrajit, Lochmüller, Hanns, Faruq, Mohammed, Nalini, Atchayaram

Source: Journal of Neuromuscular Diseases; 2022, Vol. 9 Issue 1, p95-109, 15p

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPBGene Mutation

Authors: Siddiqui, Shahyan, Polavarapu, Kiran, Bardhan, Mainak, Preethish-Kumar, Veeramani, Joshi, Aditi, Nashi, Saraswati, Vengalil, Seena, Raju, Sanita, Chawla, Tanushree, Leena, Shingavi, Mathur, Aradhana, Nayak, Sushmita, Mohan, Dhaarini, Shamim, Uzma, Prasad, Chandrajit, Lochmüller, Hanns, Faruq, Mohammed, Nalini, Atchayaram

Source: Journal of Neuromuscular Diseases; July 2022, Vol. 9 Issue: 1 p95-109, 15p