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Page 1
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: punj s. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: punj s. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Bleyer AJ, Westemeyer M, Xie J, Bloom MS, Brossart K, Eckel JJ, Jones F, Molnar MZ, Kotzker W, Anand P, Kmoch S, Xue Y, Strom S, Punj S, Demko ZP, Tabriziani H, Billings PR, McKanna T. Bleyer AJ, et al. Among authors: punj s. Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24. Am J Nephrol. 2022. PMID: 35325889 Free PMC article.
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Dahl NK, Bloom MS, Chebib FT, Clark D, Westemeyer M, Jandeska S, Zhang Z, Milo-Rasouly H, Kolupaeva V, Marasa M, Broumand V, Fatica RA, Raj DS, Demko ZP, Marshall K, Punj S, Tabriziani H, Bhorade S, Gharavi AG. Dahl NK, et al. Among authors: punj s. J Am Soc Nephrol. 2023 Dec 1;34(12):2039-2050. doi: 10.1681/ASN.0000000000000249. Epub 2023 Oct 5. J Am Soc Nephrol. 2023. PMID: 37794564 Free PMC article.
Coronavirus disease 2019 and kidney injury.
Punj S, Eng E, Shetty AA. Punj S, et al. Curr Opin Nephrol Hypertens. 2021 Jul 1;30(4):444-449. doi: 10.1097/MNH.0000000000000718. Curr Opin Nephrol Hypertens. 2021. PMID: 34027906 Review.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: punj s. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
Stein Q, Vostrizansky A, Magay Y, Jandeska S, Westemeyer M, Hendricks E, Pitman T, Hager MM, Anand A, Curry K, Bloom M, Al Haj Baddar N, Tabriziani H, Harrington M, Punj S. Stein Q, et al. Among authors: punj s. Kidney Int Rep. 2024 Mar 28;9(6):1810-1816. doi: 10.1016/j.ekir.2024.03.030. eCollection 2024 Jun. Kidney Int Rep. 2024. PMID: 38899216 Free PMC article.
37 results