A. Mannan

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Molecular Pathogenesis of Genetic and Inherited Diseases Sall 1 , Sall 2 , and Sall 4 Are Required for Neural Tube Closure in Mice

W. Wurst, W. Schulz-Schaeffer, I. Adham, 2010 .

Sall1, sall2, and sall4 are required for neural tube closure in mice.

W. Wurst, W. Schulz-Schaeffer, I. Adham, 2008, The American journal of pathology.

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse

W. Engel, A. Reis, K. Krieglstein, 2004, Neurogenetics.

Assessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer

Sanket, R. Sabarinathan, D. Kelkar, 2022, medRxiv.

Evaluating the effect of spastin splice mutations by quantitative allele‐specific expression assay

M. Shoukier, A. Zibat, S. Klimpe, 2011, European journal of neurology.

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience

S. Nampoothiri, Sanjeev V Thomas, R. Menon, 2020, Epilepsy Research.

Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders

V. Chandru, Sanjeev Jain, B. Viswanath, 2021, Indian journal of psychological medicine.

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein

W. Engel, P. Byrne, A. Mannan, 2006, Neurogenetics.

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

S. Naushad, A. Mannan, A. Radha Rama Devi, 2019, Molecular Syndromology.

Oligomerization of ZFYVE27 (Protrudin) Is Necessary to Promote Neurite Extension

A. Sikorska, D. V. K. Pantakani, A. Mannan, 2011, PloS one.

Male Mice Lacking the Theg (Testicular Haploid Expressed Gene) Protein Undergo Normal Spermatogenesis and Are Fertile1

I. Adham, W. Engel, C. Mueller, 2003, Biology of reproduction.

Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population

F. Sheth, J. Sheth, Sudhir Shah, 2019, Neurology India.

MeCP2270 Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus

J. Arunachalam, H. Agbemenyah, F. Laccone, 2010, Cytogenetic and Genome Research.

Functional evaluation of paraplegin mutations by a yeast complementation assay

T. Langer, M. Shoukier, F. Bonn, 2010, Human mutation.

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy

Sruthi S. Nair, R. Menon, A. Mannan, 2019, Ophthalmic genetics.

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia

U. Zechner, D. V. K. Pantakani, S. Pauli, 2008, Clinical genetics.

Alternative splicing, chromosome assignment and subcellular localization of the testicular haploid expressed gene (THEG)

W. Engel, P. Burfeind, A. Mannan, 2000, Cytogenetic and Genome Research.

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

M. Shoukier, A. Mannan, J. Neesen, 2009, European Journal of Human Genetics.

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2

C. Dinakar, A. Mannan, S. Bhattad, 2019, Journal of Clinical Immunology.

Calgizarrin like gene (Cal) deficient mice undergo normal spermatogenesis

W. Engel, C. Mueller, G. Nica, 2003, Molecular reproduction and development.

Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures.

H. Ehrenreich, J. Arunachalam, R. Mollajew, 2013, The American journal of pathology.

Bibliography of Ulrich Wolf

C. Tyler-Smith, P. Yen, K. Hirschhorn, 2001, Cytogenetic and Genome Research.

Elucidation of Theg Gene Role in Spermatogenesis and Characterisation of a Novel Spontaneous Mutation Named “nax” in Mouse

A. Mannan, 2003 .

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

V. Chandru, M. Nireekshan Kumar, S. Nampoothiri, 2019, Journal of Neurology.

Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology

R. Sarin, G. Bhattacharyya, H. Malhotra, 2020, JCO global oncology.

Mild expression differences of MECP2 influencing aggressive social behavior

D. Rujescu, I. Giegling, A. Hartmann, 2014, EMBO molecular medicine.

Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild‐type spastin into filamentous microtubule

L. S. Swapna, N. Srinivasan, A. Mannan, 2008, Journal of neurochemistry.

Genotype-Phenotype Analysis in an Indian Family Affected with Li-Fraumeni Syndrome-Role of Genetic Counselling

Manjima Chatterjee, Vaijayanti Gupta, A. Mannan, 2016 .

Familial Genetic Cancer Risk Assessment with respect to a Silent BRCA2 mutation

A. Mannan, S. Dixit, L. Busheri, 2021, medRxiv.

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

A. Sinha, R. Hariharan, Bharathi Ramamurthy, 2016, Journal of Human Genetics.

Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India

A. Mannan, R. Chakor, Swaleha Nadaf, 2019, Annals of Indian Academy of Neurology.

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort

S. Sripriya, R. Hariharan, A. J. Pandian, 2016, Molecular vision.

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases

R. Gadkari, N. Soumittra, P. Sen, 2016, Journal of Human Genetics.

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations

R. Kumar, R. Ahmed, V. Raina, 2018, Breast Cancer Research and Treatment.

Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia

A. Mannan, B. Rao, Advithi Rangaraju, 2018, Indian pacing and electrophysiology journal.

In-Frame Insertion Mutation in the SPG11 Gene Causes Autosomal Recessive Spastic Paraplegia with Thin Corpus Callosum “In A” Turkish Family with Late Age of Onset of the Phenotype

I. Zerr, S. Mosalaganti, M. Shoukier, 2015 .

Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations

A. Ramachandran, U. Nongthomba, A. Mannan, 2019, The Indian journal of medical research.

An insight on the role of genetic testing of RUNX1-a key transcriptional gene in familial platelet disorder with predisposition to acute myeloid leukemia

A. Mannan, I. Mehdi, Mithua Ghosh, 2023, Pediatric Hematology Oncology Journal.

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

W. Paulus, W. Engel, A. Mannan, 2006, American journal of human genetics.

Purkinje Cell Compartmentation in the Cerebellum of the Lysosomal Acid Phosphatase 2 Mutant Mouse (Nax - Naked-Ataxia Mutant Mouse)

M. D. Del Bigio, H. Marzban, A. Mannan, 2014, PloS one.

Clinical and genetic analysis of Indian patients with NDP-related retinopathies

J. Arunachalam, S. Chidambaram, D. Sudha, 2018, International Ophthalmology.

Lipoprotein Lipase Deficiency

S. Nampoothiri, M. Hoffmann, A. Mannan, 2020, The Indian Journal of Pediatrics.

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.

P. Majumder, A. Nalini, A. Bhattacharya, 2018, Journal of neuromuscular diseases.

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

Indu R. Nair, S. Nampoothiri, A. Mannan, 2020, American Journal of Medical Genetics. Part A.