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★★★★★
☆☆☆☆☆
USD 500 /hr
Hire Dr. Sateesh M.
Saudi Arabia
USD 500 /hr

Molecular Scientist | Rare Disease Genomics & NGS Diagnostics | 20+ Years Experience

Profile Summary
Subject Matter Expertise
Services
Writing Medical Writing
Work Experience

Scientist

King Faisal Specialist Hospital and Research Center

June 2015 - Present

Research Professor

Chungnam National University

August 2011 - May 2015

Education

Ph.D (School of Bioscience and Biotechnology)

Chungnam National University

August 2007 - Present

Masters of Science

University of Madras

June 2000 - March 2022

BSc

Nagarjuna University

June 1997 - May 2020

Certifications

  • Master's in computer science applications

    Indian Computer center

    September 2021 - Present

Publications
JOURNAL ARTICLE
Sateesh Maddirevula, Ahmed Alfares, Faiqa Imtiaz, Nabil Moghrabi, Monther Alhamdoosh, Anas M. Alazami, Mohammed Alowain, Abdullah Alsuwaidan, Sultan Alsedairy, Brian F. Meyer, et al. (2026). Building genomic medicine in Saudi Arabia . Nature Genetics.
Sateesh Maddirevula, Lama Alabdi, Benjamin Cogne, Ali S. Almasood, Abdullah Alsehly, Rana Helaby, Thomas Besnard, Laura Do Souto, Bertrand Isidor, Fowzan S. Alkuraya (2026). WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy . Clinical Genetics.
Sateesh Maddirevula, Abdullah H. Alfalah, Mohamed Y. Elsaid, Ahmed Alrajjal, Daniah Albokhari, Ebtissal Khouj, Afshan Aziz, Ahmed Alfares (2026). Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis . Clinical Genetics.
Sateesh Maddirevula, Abdullah H Alfalah, Hamzah Naji, Ahmed Alfares, Zuhair Al‐Hassnan (2025). ZSCAN10‐Deficiency Mimicking Goldenhar Syndrome . American Journal of Medical Genetics Part A.
Sateesh Maddirevula, Mohamed H. Al-Hamed, Nabil Moghrabi, Mohammed A. Aldahmesh, Abdullah H. Alfalah, Ebtissal Khouj, Norah Altuwaijri, Midrar Alhossiny, Faiqa Imtiaz, Ahmed Alfares (2025). Detection of Chromosomal Aneuploidy Using Exome Sequencing . Genes.
Harkness JR, McDermott JH, Marsden S, Jamieson P, Metcalfe KA, Khan N, Macken WL, Pitceathly RDS, Record CJ, Maroofian R, et al. (2025). Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series . The Lancet. Neurology.
Sateesh Maddirevula, Mohamed H. Al-Hamed, Nabil Moghrabi, Mohammed A. Aldahmesh, Abdullah H. Alfalah, Ebtissal Khouj, Norah Altuwaijri, Midrar Alhossiny, Faiqa Imtiaz, Ahmed Alfares (2025). Detection of Chromosomal Aneuploidy Using Exome Sequencing . Genes.
Alfalah AH, Haroon A, Alfares A, Ahmed SO, Maddirevula S (2025). Biallelic OSM deficiency presents with juvenile myelodysplastic syndrome and response to treatment . The Journal of clinical investigation.
Sateesh Maddirevula, Maarab Al‐Korashy, Hadeel Binomar, Abeer Al‐Mostafa, Ibrahim Al‐Mogarri, Saud Al‐Oufi, Mohamed Al‐Admawi, Mansour Al‐Jufan, Najmeddine Echahidi, Amal Mokeem, et al. (2025). Genetic Analysis of Heterotaxy in a Consanguineous Cohort . Clinical Genetics.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, et al. (2025). CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans . American journal of human genetics.
Sateesh Maddirevula, Dana Bakheet, Hana Al Alshaykh, Ghadi Askar, Samya Hagos, Nasir Hamad Alshahrani, Midrar Alhusseini, Amani Moharram, Faries Algadhi, Osama Alswailim, et al. (2025). Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients . Genetics in Medicine Open.
De Hayr L, Blok LER, Dias KR, Long J, Begemann A, Moir RD, Willis IM, Mocera M, Siegel G, Steindl K, et al. (2024). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability . Genetics in medicine : official journal of the American College of Medical Genetics.
Bayam E, Tilly P, Collins SC, Rivera Alvarez J, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Schwaller N, et al. (2024). Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome . EMBO molecular medicine.
Sateesh Maddirevula, Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, et al. (2024). Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome . EMBO Molecular Medicine.
Al-Korashy M, Binomar H, Al-Mostafa A, Al-Mogarri I, Al-Oufi S, Al-Admawi M, Al-Jufan M, Echahidi N, Mokeem A, Alfares A, et al. (2024). Genetic Analysis of Heterotaxy in a Consanguineous Cohort . Clinical genetics.
Al-Korashy M, Binomar H, Al-Mostafa A, Al-Mogarri I, Al-Oufi S, Al-Admawi M, Al-Jufan M, Echahidi N, Mokeem A, Alfares A, et al. (2024). Genetic Analysis of Heterotaxy in a Consanguineous Cohort . Clinical genetics.
AlAbdi L, Maddirevula S, Aljamal B, Hamid H, Almulhim A, Hashem MO, Algoos Y, Alqahtani M, Albaloshi S, Alghamdi M, et al. (2024). Arab founder variants: Contributions to clinical genomics and precision medicine . Med (New York, N.Y.).
Sateesh Maddirevula, Mohammad Shagrani, Ae-Ri Ji, Christopher R. Horne, Samuel N. Young, Lucy J. Mather, Mashael Alqahtani, Colin McKerlie, Geoffrey Wood, Paul K. Potter, et al. (2024). Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations . Genetics in Medicine.
Maddirevula S, Shagrani M, Ji AR, Horne CR, Young SN, Mather LJ, Alqahtani M, McKerlie C, Wood G, Potter PK, et al. (2024). Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations . Genetics in medicine : official journal of the American College of Medical Genetics.
Maddirevula S, Shagrani M, Ji AR, Horne CR, Young SN, Mather LJ, Alqahtani M, McKerlie C, Wood G, Potter PK, et al. (2024). Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations . Genetics in medicine : official journal of the American College of Medical Genetics.
Zhang Y, Bi C, Nadeef S, Maddirevula S, Alqahtani M, Alkuraya FS, Li M (2024). NanoRanger enables rapid single-base-pair resolution of genomic disorders . Med (New York, N.Y.).
Sateesh Maddirevula, Mohamed Abouelhoda, Noura Almuqati, Ahmed Abogosh, Feras Alfraih, Fowzan S. Alkuraya (2024). Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia . Human Genetics.
Maddirevula, Sateesh, Abouelhoda, Mohamed, Almuqati, Noura, Abogosh, Ahmed, Alfraih, Feras, Alkuraya, Fowzan S. (2024). Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia . Human Genetics.
Maddirevula, Sateesh, Alabdi, Lama, Rahbeeni, Zuhair, Helaby, Rana, Abdulwahab, Firdous, Khan, Arif O., Riley, Lisa G., Alhashem, Amal, Chassaing, Nicolas, Jamieson, Robyn V., et al. (2024). A founder variant expands the phenotype of <i>WNT7B</i>-related PDAC syndrome . Clinical Genetics.
Maddirevula, Sateesh, Salpietro, Vincenzo, Maroofian, Reza, Zaki, Maha S., Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., et al. (2024). Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome . The American Journal of Human Genetics.
Maddirevula, Sateesh, Brar, Bobby K., Blakemore, Karin, Hertenstein, Christine L., Miller, Jena L. A., Miller, Kristen A., Shamseldin, Hanan, Hays, Thomas, Lianoglou, Billie, Dukhovny, Stephanie A., et al. (2024). The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction . Prenatal Diagnosis.
Maddirevula, Sateesh, Almannai, Mohammed, AlAbdi, Lama, Alotaibi, Maha, Alsaleem, Badr M., Aljadhai, Yaser I., Alsaif, Hessa S., Abukhalid, Musaad, Alkuraya, Fowzan S. (2023). <i>KIF26A</i> is mutated in the syndrome of congenital hydrocephalus with megacolon . Human Genetics.
Maddirevula, Sateesh, AlAbdi, Lama, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha, Hamid, Halima, Hashem, Mais O., et al. (2023). Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases . Genome Medicine.
Maddirevula, Sateesh, Dias, Kerith-Rae, Begemann, Anais, Blok, Laura, Long, Jingyi, De Hayr, Lachlan, Evans, Carey-Anne, Zhu, Ying, Field, Mike, Ma, Alan, et al. (2023). Biallelic variants in GTF3C3 result in an autosomal recessive intellectual disability . European Journal of Human Genetics.
Maddirevula, Sateesh, Alabdi, Lama, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, et al. (2023). Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families . Nature Communications.
Maddirevula, Sateesh, Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natalia, Fueyo, Raquel, et al. (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders . Nature Communications.
Maddirevula, Sateesh, De Franco, Elisa, Owens, Nick D. L., Montaser, Hossam, Wakeling, Matthew N., Saarimaki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem, Balboa, Diego, Caswell, Richard C., et al. (2023). Primate-specific ZNF808 is essential for pancreatic development in humans . Nature Genetics.
Maddirevula, Sateesh, Akula, Shyam K., Marciano, Jack H., Lim, Youngshin, Exposito-Alonso, David, Hylton, Norma K., Hwang, Grace H., Neil, Jennifer E., Dominado, Nicole, Bunton-Stasyshyn, Rosie K., et al. (2023). TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system . Proceedings of the National Academy of Sciences.
Sateesh Maddirevula, Seham Alameer, Nour Ewida, Mirta Mittelstedt Leal de Sousa, Magnar Bj&#248;r&#229;s, Cathrine Broberg V&#229;gb&#248;, Fowzan S Alkuraya(2022). Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant . Human Genetics. Springer Science and Business Media {LLC}
Sateesh Maddirevula, Serdar Coskun, Mashael Al-Qahtani, Omar Aboyousef, Saad Alhassan, Meshael Aldeery, Fowzan S. Alkuraya(2022). ASTL is mutated in female infertility . Human Genetics. Springer Science and Business Media {LLC}
Maddirevula, Sateesh, Coskun, Serdar, Al-Qahtani, Mashael, Aboyousef, Omar, Alhassan, Saad, Aldeery, Meshael, Alkuraya, Fowzan S. (2022). <i>ASTL</i> is mutated in female infertility . Human Genetics.
Maddirevula, Sateesh, Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler-Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, et al. (2022). <i>ANKLE2</i>-related microcephaly: A variable microcephaly syndrome resembling Zika infection . Annals of Clinical and Translational Neurology.
Maddirevula, Sateesh, van der Knoop, Marieke M., Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G., Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, et al. (2022). Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy . Brain.
Maddirevula, Sateesh, McQuaid, Mary E., Ahmed, Kashif, Tran, Stephanie, Rousseau, Justine, Shaheen, Ranad, Kernohan, Kristin D., Yuki, Kyoko E., Grover, Prerna, Dreseris, Ema S., et al. (2022). Hypomorphic<i> GINS3</i> variants alter DNA replication and cause Meier-Gorlin syndrome . JCI Insight.
Maddirevula, Sateesh, Coskun, Serdar, Awartani, Khalid, Aldeery, Meshael, Qubbaj, Wafa, Kashir, Junaid, Alkuraya, Fowzan S. (2022). Recurrent spontaneous oocyte activation causes female infertility . Journal of Assisted Reproduction and Genetics.
Maddirevula, Sateesh, DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., et al. (2022). The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources . Genetics in Medicine.
Maddirevula, Sateesh, Alameer, Seham, Ewida, Nour, de Sousa, Mirta Mittelstedt Leal, Bjoras, Magnar, Vagbo, Cathrine Broberg, Alkuraya, Fowzan S. (2022). Insight into <i>ALKBH8</i>-related intellectual developmental disability based on the first pathogenic missense variant . Human Genetics.
Sateesh Maddirevula, Mohammed Zain Seidahmed, Abeer M. Miqdad, Abdullah Al Faifi, Abdulmohsen Al Samadi, Fowzan S. Alkuraya(2021). Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome . American Journal of Medical Genetics Part A. 185. (3). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 945--948. Wiley
Maddirevula, Sateesh, Seidahmed, Mohammed Zain, Miqdad, Abeer M., Al Faifi, Abdullah, Al Samadi, Abdulmohsen, Alkuraya, Fowzan S. (2021). Confirming the involvement of <i>PIEZO2</i> in the etiology of Marden-Walker syndrome . American Journal of Medical Genetics Part A.
Maddirevula, Sateesh, Shamseldin, Hanan E., AlAbdi, Lama, Alsaif, Hessa S., Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, et al. (2021). Lethal variants in humans: lessons learned from a large molecular autopsy cohort . Genome Medicine.
Maddirevula, Sateesh, Alhebbi, Hamoud, Peer-Zada, Abdul Ali, Al-Hussaini, Abdulrahman A., Algubaisi, Sara, Albassami, Awad, AlMasri, Nasser, Alrusayni, Yasir, Alruzug, Ibrahim M., Alharby, Essa, et al. (2021). New paradigms of<i>USP53</i>disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin . Journal of Human Genetics.
Sateesh Maddirevula, Tawfeg Ben‐Omran, Mariam AlMureikhi, Wafa Eyaid, Hisham Arabi, Hisham Alkuraya, Abdullah Alfaifi, Abdullah Hamed Alfalah, Hessa S. Alsaif, Firdous Abdulwahab, et al.(2020). Further delineation of HIDEA syndrome . American Journal of Medical Genetics Part A. 182. (12). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 2999--3006. Wiley
Maddirevula, Sateesh, Ben-Omran, Tawfeg, AlMureikhi, Mariam, Eyaid, Wafa, Arabi, Hisham, Alkuraya, Hisham, Alfaifi, Abdullah, Alfalah, Abdullah Hamed, Alsaif, Hessa S., Abdulwahab, Firdous, et al. (2020). Further delineation ofHIDEAsyndrome . American Journal of Medical Genetics Part A.
Maddirevula, Sateesh, Alsaif, Hessa S., Ibrahim, Niema, Alkuraya, Fowzan S. (2020). A <i>de novo</i> mutation in <i>FMR1</i> in a patient with intellectual disability . European Journal of Medical Genetics.
Maddirevula, Sateesh, Al-Qattan, Mohammad M., Alkuraya, Fowzan S. (2020). A de <i>novo TBX3</i> mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome . European Journal of Medical Genetics.
Maddirevula, Sateesh, Nabil, Amira, El Shafei, Sahar, El Shakankiri, Nihal M., Habib, Ahmed, Morsy, Heba, Alkuraya, Fowzan S. (2020). A familial <i>PLCB4</i> mutation causing auriculocondylar syndrome 2 with variable severity . European Journal of Medical Genetics.
Maddirevula, Sateesh, Awartani, Khalid, Coskun, Serdar, AlNaim, Latifa F., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Alhassan, Saad, Alkuraya, Fowzan S. (2020). A genomics approach to females with infertility and recurrent pregnancy loss . Human Genetics.
Maddirevula, Sateesh, Alhathal, Naif, Coskun, Serdar, Alali, Hamed, Assoum, Mirna, Morris, Thomas, Deek, Hesham A., Hamed, Soha A. C., Alsuhaibani, Shaheed, Mirdawi, Abdulmalik, et al. (2020). A genomics approach to male infertility . Genetics in Medicine.
Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., et al. (2020). Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics . Genome Biology.
Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., de Zorzi, R., Payne, K., Henderson, L., Cortese, A., et al. (2020). Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination . European Journal of Human Genetics.
Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, et al. (2020). Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update . Frontiers in Genetics.
Maddirevula, Sateesh, Hengel, Holger, Bosso-Lefevre, Celia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Elise, Tan, Thong-Teck, Eio, Michelle Y., et al. (2020). Loss-of-function mutations in <i>UDP-Glucose 6-Dehydrogenase</i> cause recessive developmental epileptic encephalopathy . Nature Communications.
Maddirevula, Sateesh, Alazami, Anas M., Seidahmed, Mohamed Zain, Albhlal, Lulu A., Alkuraya, Fowzan S. (2019). A novel <i>ISLR2</i>-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension . Human Genetics.
Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, et al. (2019). Autozygome and high throughput confirmation of disease genes candidacy . Genetics in Medicine.
Maddirevula, Sateesh, Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B., et al. (2019). Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination . Brain.
Alrakaf, L., Al-Owain, M. A., Busehail, M., Alotaibi, M. A., Monies, D., Aldhalaan, H. M., Alhashem, A., Al-Hassnan, Z. N., Rahbeeni, Z. A., Murshedi, F. A., et al. (2019). FURTHER DELINEATION OF TEMTAMY SYNDROME OF CORPUS CALLOSUM AND OCULAR ABNORMALITIES . American Journal of Medical Genetics Part A.
Maddirevula, Sateesh, Shaheen, Ranad, Alkuraya, Fowzan S., Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Al Tala, Saeed, Alhashem, Amal, Softah, Ameen, et al. (2019). Genomic and phenotypic delineation of congenital microcephaly . Genetics in Medicine.
Maddirevula, Sateesh, Alhebbi, Hamoud, Alqahtani, Awad, Algoufi, Talal, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Barr, Mohammed, Alzaidan, Hamad, Almehaideb, Ali, et al. (2019). Identification of novel loci for pediatric cholestatic liver disease defined by <i>KIF12, PPM1F, USP53, LSR,</i> and <i>WDR83OS</i> pathogenic variants . Genetics in Medicine.
Maddirevula, Sateesh, Shaheen, Ranad, Tasak, Monika, Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S. (2019). PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly . Human Genetics.
Maddirevula, Sateesh, Kumar, Ajeet, Anuppalle, Mrudhula, Huh, Tae-Lin, Choe, Joonho, Rhee, Myungchull (2019). Peli1b governs the brain patterning via ERK signaling pathways in zebrafish embryos . Gene.
Maddirevula, Sateesh, Nashabat, Marwan, Al Qahtani, Xena S., Almakdob, Salwa, Altwaijri, Waleed, Ba-Armah, Duaa M., Hundallah, Khalid, Al Hashem, Amal, Al Tala, Saeed, Alkuraya, Fowzan S., et al. (2019). The landscape of early infantile epileptic encephalopathy in a consanguineous population . Seizure: European Journal of Epilepsy.
Maddirevula, Sateesh, Alshenaifi, Jumanah, Ewida, Nour, Anazi, Shams, Shamseldin, Hanan E., Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, et al. (2019). The many faces of peroxisomal disorders: Lessons from a large Arab cohort . Clinical Genetics.
Maddirevula, Sateesh, Monies, Dorota, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, et al. (2018). Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation (vol 19, pg 1144, 2017) . Genetics in Medicine.
Maddirevula, Sateesh, Monies, Dorota, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, et al. (2018). Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation (vol 19, pg 1144, 2017) . Genetics in Medicine.
Maddirevula, Sateesh, Stephen, Joshi, Nampoothiri, Sheela, Burke, John D., Herzog, Matthew, Shukla, Anju, Steind, Katharina, Eskin, Ascia, Patil, Siddaramappa J., Joset, Pascal, et al. (2018). Bi-allelic <i>TMEM94</i> Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism . The American Journal of Human Genetics.
Maddirevula, Sateesh, Nahorski, Michael S., Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F., Begemann, Anaies, Mizushima, Tsunehiro, Guzman-Vega, Francisco J., Obata, Miki, Ichimura, Yoshinobu, et al. (2018). Biallelic <i>UFM1</i> and <i>UFC1</i> mutations expand the essential role of ufmylation in brain development . Brain.
Maddirevula, Sateesh, Anazi, Shams, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, et al. (2018). Expanding the genetic heterogeneity of intellectual disability (vol 136, pg 1419, 2017) . Human Genetics.
Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., et al. (2018). Expanding the phenome and variome of skeletal dysplasia . Genetics in Medicine.
Maddirevula, Sateesh, Alrakaf, Laila, Al-Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair A., et al. (2018). Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities . American Journal of Medical Genetics Part A.
Maddirevula, Sateesh, AlZahrani, Fatema, Anazi, Shams, Almureikhi, Mariam, Ben-Omran, Tawfeg, Abdel-Salam, Ghada M. H., Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M., Meriki, Neama, et al. (2018). GWAS signals revisited using human knockouts . Genetics in Medicine.
Maddirevula, Sateesh, Monies, Dorota, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, et al. (2017). Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation . Genetics in Medicine.
Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., et al. (2017). Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield . Molecular Psychiatry.
Maddirevula, Sateesh, Anazi, Shams, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, et al. (2017). Expanding the genetic heterogeneity of intellectual disability . Human Genetics.
Maddirevula, Sateesh, Anuppalle, Mrudhula, Kumar, Ajeet, Huh, Tae-Lin, Choe, Joonho, Rhee, Myungchull (2017). Expression patterns of <i>prune2</i> is regulated by Notch and retinoic acid signaling pathways in the zebrafish embryogenesis . Gene Expression Patterns.
Maddirevula, Sateesh, Coskun, Serdar, Alhassan, Saad, Elnour, Atif, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Arold, Stefan T., Alkuraya, Fowzan S. (2017). Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor <i>PATL2</i> . The American Journal of Human Genetics.
Maddirevula, Sateesh, Shamseldin, Hanan E., Faqeih, Eissa, Ibrahim, Niema, Hashem, Mais, Shaheen, Ranad, Alkuraya, Fowzan S. (2017). Increasing the sensitivity of clinical exome sequencing through improved filtration strategy . Genetics in Medicine.
Maddirevula, Sateesh, Yoo, Kyeong-Won, Thiruvarangan, Maivannan, Jeong, Yun-Mi, Lee, Mi-Sun, Rhee, Myungchull, Bae, Young-Ki, Kim, Hyung-Goo, Kim, Cheol-Hee (2017). Mind Bomb-Binding Partner RanBP9 Plays a Contributory Role in Retinal Development . Molecules and Cells.
Maddirevula, Sateesh, Van De Weghe, Julie C., Rusterholz, Tamara D. S., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Cheng, Yong-Han H., Phelps, Ian G., et al. (2017). Mutations in <i>ARMC9</i>, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish . The American Journal of Human Genetics.
Maddirevula, Sateesh, Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga, et al. (2017). Mutations in <i>DONSON</i> disrupt replication fork stability and cause microcephalic dwarfism . Nature Genetics.
Maddirevula, Sateesh, Patel, Nisha, Anand, Deepti, Monies, Dorota, Khan, Arif O., Algoufi, Talal, Alowain, Mohammed, Faqeih, Eissa, Alshammari, Muneera, Qudair, Ahmed, et al. (2017). Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract . Human Genetics.
Maddirevula, Sateesh, Yoo, Kyeong-Won, Kumar, Ajeet, Ro, Hyunju, Huh, Tae-Lin, Rhee, Myungchull (2017). Sinup is essential for the integrity of centrosomes and mitotic spindles in zebrafish embryos . Animal Cells and Systems.
Maddirevula, S., Coskun, S., Awartani, K., Alsaif, H., Abdulwahab, F. M., Alkuraya, F. S. (2017). The human knockout phenotype of <i>PADI6</i> is female sterility caused by cleavage failure of their fertilized eggs . Clinical Genetics.
Maddirevula, Sateesh, Alhashem, Amal M., Majeed-Saidan, Muhammad Ali, Ammari, Amer N., Alrakaf, Maha S., Nojoom, Maha, Faqeih, Eissa, Alkuraya, Fowzan S., Garne, Ester, Kurdi, Ahmad M. (2016). Crisponi/CISS1 Syndrome: A Case Series . American Journal of Medical Genetics Part A.
Maddirevula, Sateesh, Abanemai, Mohammed, Alkuraya, Fowzan S. (2016). Human knockouts of <i>PLA2G4A</i> phenocopy NSAID-induced gastrointestinal and renal toxicity . Gut.
Maddirevula, Sateesh, Shamseldin, Hanan E., Nabil, Amira, Al-Fadhil, Saeed, Al Tala, Saeed, Alkuraya, Fowzan S. (2016). Joint Laxity in Homozygotes for Severe <i>POU1F1</i> Mutations . American Journal of Medical Genetics Part A.
Maddirevula, Sateesh, Kumar, R. Saravana, Easwaran, Maheswaran, Dananjaya, S. H. S., Kim, Moon-Deock (2015). Antibacterial activity of novel Cu<sub>2</sub>ZnSnS<sub>4</sub> nanoparticles against pathogenic strains . RSC Advances.
Vigneshwaran, E., Maddirevula, M. R., Dharmareddy, L., Thamineni, R., Kadapala, P. R., Golla, M., Yiragamreddy, P. R. (2014). COST EFFECTIVE ANALYSIS OF DRY POWDERED INHALERS VERSUS METERED DOSE INHALERS OF SALBUTAMOL FOR ASTHMA IN RURAL SECONDARY CARE HOSPITAL OF SOUTH INDIA . Value in Health.
Maddirevula, S., Anuppalle, M., Kumar, A., Rhee, M. (2014). Characterization of an E3 liagse, RING finger protein 182 (Rnf182) in the zebrafish embryos . The FEBS Journal.
Maddirevula, S., Anuppalle, M., Kumar, A., Rhee, M. (2014). Notch and retinoic acid signaling are required for the spatiotemporal distribution of prune2 mRNA in the zebrafish embryonic development . The FEBS Journal.
Anuppalle, M., Maddirevula, S., Huh, T. -L, Rhee, M. (2014). Ubiquitin proteasome system networks in the neurological disorders (vol 17, pg 383, 2013) . Animal Cells and Systems.
Maddirevula, Sateesh, Anuppalle, Mrudhula, Huh, Tae-Lin, Rhee, Myungchull (2013). Trb3 Regulates LR Axis formation in zebrafish embryos . Molecules and Cells.
Maddirevula, Sateesh, Anuppalle, Mrudhula, Huh, Tae-Lin, Rhee, Myungchull (2013). Ubiquitin proteasome system networks in the neurological disorders . Animal Cells and Systems.
Maddirevula, Sateesh, Anuppalle, Mrudhula, Huh, Tae-Lin, Kim, Seong Hwan, Rhee, Myungchull (2012). Rnf11-like is a novel component of NF-κB signaling, governing the posterior patterning in the zebrafish embryos . Biochemical and Biophysical Research Communications.
Maddirevula, Sateesh, Anuppalle, Mrudhula, Huh, Tae-Lin, Kim, Seong Hwan, Rhee, Myungchull (2011). Nrdp1 governs differentiation of the melanocyte lineage via Erbb3b signaling in the zebrafish embryogenesis . Biochemical and Biophysical Research Communications.
PREPRINT
Sateesh Maddirevula, Mohamed Abouelhoda, Noura Almuqati, Ahmad Abu Goach, Firas Alfuraih, Fowzan Alkuraya (2023). Mining local exome and HLA data to characterize actionable pharmacogenetic variants in Saudi Arabia .