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A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
J Mol Neurosci. 2020 Sep;70(9):1403-1409. doi: 10.1007/s12031-020-01560-5. Epub 2020 May 12.
J Mol Neurosci. 2020.
PMID: 32399860
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.
Muthusamy B, Nguyen TT, Bandari AK, Basheer S, Selvan LDN, Chandel D, Manoj J, Gayen S, Seshagiri S, Chandra Girimaji S, Pandey A.
Muthusamy B, et al. Among authors: bandari ak.
Eur J Med Genet. 2020 Jan;63(1):103635. doi: 10.1016/j.ejmg.2019.02.007. Epub 2019 Feb 21.
Eur J Med Genet. 2020.
PMID: 30797980
Free PMC article.
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Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency.
Bandari AK, Bhat S, Archana MV, Yadavalli S, Patel K, Rajagopalan P, Madugundu AK, Madkaikar M, Reddy K, Muthusamy B, Pandey A.
Bandari AK, et al.
OMICS. 2019 May;23(5):285-290. doi: 10.1089/omi.2018.0196.
OMICS. 2019.
PMID: 31100039
Free PMC article.
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A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.
Bandari AK, Muthusamy B, Bhat S, Govindaraj P, Rajagopalan P, Dalvi A, Shankar S, Raja R, Reddy KS, Madkaikar M, Pandey A.
Bandari AK, et al.
Front Immunol. 2019 Aug 21;10:1964. doi: 10.3389/fimmu.2019.01964. eCollection 2019.
Front Immunol. 2019.
PMID: 31497017
Free PMC article.
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A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
Muthusamy B, Bellad A, Prasad P, Bandari AK, Bhuvanalakshmi G, Kiragasur RM, Girimaj SC, Pandey A.
Muthusamy B, et al. Among authors: bandari ak.
Front Psychiatry. 2020;11:354. doi: 10.3389/fpsyt.2020.00354. Epub 2020 May 18.
Front Psychiatry. 2020.
PMID: 32499722
Free PMC article.
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