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Tipu Sultan

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Vincenzo Salpietro, Christine L. Dixon, et al. · Nature Communications · 250
Expanding the genetic heterogeneity of intellectual disability
2017 · Shams Anazi, Sateesh Maddirevula, et al. · Human Genetics · 162
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019 · Vincenzo Salpietro, Nancy T. Malintan, et al. · The American Journal of Human Genetics · 134
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020 · Lucia V. Schottlaender, Rosella Abeti, et al. · The American Journal of Human Genetics · 88
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Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
2016 · Anide Johansen, Rasim O. Rosti, et al. · The American Journal of Human Genetics · 87
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019 · Stephanie Efthymiou, Vincenzo Salpietro, et al. · Brain · 71
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism
2020 · Wendy Wenderski, Lu Wang, et al. · Proceedings of the National Academy of Sciences · 64
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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
2016 · Martin W. Breuss, Tipu Sultan, et al. · The American Journal of Human Genetics · 57
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020 · Caroline Neuray, Reza Maroofian, et al. · Brain · 50
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PYCR2Mutations cause a lethal syndrome of microcephaly and failure to thrive
2016 · Maha S. Zaki, Gifty Bhat, et al. · Annals of Neurology · 45
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
2021 · Gabriel C. Dworschak, Jaya Punetha, et al. · Genetics in Medicine · 38
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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
2020 · Shereen G. Ghosh, Sangmoon Lee, et al. · Genetics in Medicine · 37
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
2018 · Martin W. Breuss, An Nguyen, et al. · The American Journal of Human Genetics · 35
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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
2021 · Sheng-Jia Lin, Barbara Vona, et al. · Genetics in Medicine · 31
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
2020 · Michael E. Coulter, Damir Musaev, et al. · Genetics in Medicine · 29
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
2021 · Maria Iqbal, Reza Maroofian, et al. · Genetics in Medicine · 24
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Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function
2021 · Marcello Scala, Stephanie Efthymiou, et al. · Epilepsia · 24
Clinical Spectrum And Outcome Of Cerebral Venous Sinus Thrombosis In Children
2018 · Iram Javed, Tipu Sultan, et al. · Journal of College of Physicians And Surgeons Pakistan · 22
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
2016 · Martin W. Breuss, Tipu Sultan, et al. · The American Journal of Human Genetics · 22
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Epilepsy in Pakistan: National guidelines for clinicians
2015 · Fowzia Siddiqui, Tipu Sultan, et al. · eCommons - AKU (Aga Khan University) · 22
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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
2021 · Gabrielle Lemire, Yoko A. Ito, et al. · The American Journal of Human Genetics · 20
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
2023 · Rauan Kaiyrzhanov, Aboulfazl Rad, et al. · Brain · 19
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Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy
2021 · Stephanie Efthymiou, Marina Dutra‐Clarke, et al. · Epilepsia · 18
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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
2024 · Jai Sidpra, Sniya Sudhakar, et al. · Brain · 17
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022 · Elisa Calì, Sheng-Jia Lin, et al. · Genetics in Medicine · 17
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Works count: 158
Citation count: 1,911
H-index: 22
I10-index: 43
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