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101 results

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Page 1
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: phornphutkul c. Am J Hum Genet. 2024 Jun 6;111(6):1240. doi: 10.1016/j.ajhg.2024.05.004. Epub 2024 May 14. Am J Hum Genet. 2024. PMID: 38749428 Free PMC article. No abstract available.
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.
Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, Muss C, Pingault V, Marlin S, Delahaye A, Peters S, Perne C, Kreiß M, Spataro N, Trujillo-Quintero JP, Racine C, Tran-Mau-Them F, Phornphutkul C, Besterman AD, Martinez J, Wang X, Tian X, Srivastava S, Urion DK, Madden JA, Saif HA, Morrow MM, Begtrup A, Li X, Jurgensmeyer S, Leahy P, Zhou S, Li F, Hu Z, Tan J, Xia K, Guo H. Tan S, et al. Among authors: phornphutkul c. Mol Psychiatry. 2024 Oct 29. doi: 10.1038/s41380-024-02806-z. Online ahead of print. Mol Psychiatry. 2024. PMID: 39472663
Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: phornphutkul c. medRxiv [Preprint]. 2024 Nov 2:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716. medRxiv. 2024. PMID: 39574879 Free PMC article. Preprint.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. Mullegama SV, et al. Among authors: phornphutkul c. Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531365 Free PMC article.
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Kenney-Jung D, Korlimarla A, Spiridigliozzi GA, Wiggins W, Malinzak M, Nichting G, Jung SH, Sun A, Wang RY, Al Shamsi A, Phornphutkul C, Owens J, Provenzale JM, Kishnani PS. Kenney-Jung D, et al. Among authors: phornphutkul c. Mol Genet Metab. 2024 Feb;141(2):108119. doi: 10.1016/j.ymgme.2023.108119. Epub 2023 Dec 22. Mol Genet Metab. 2024. PMID: 38184429
LRP5, Bone Mass Polymorphisms and Skeletal Disorders.
Littman J, Yang W, Olansen J, Phornphutkul C, Aaron RK. Littman J, et al. Among authors: phornphutkul c. Genes (Basel). 2023 Sep 23;14(10):1846. doi: 10.3390/genes14101846. Genes (Basel). 2023. PMID: 37895195 Free PMC article. Review.
Ochronotic Chondropathy: A Case Report.
Littman J, Pietro J, Olansen J, Phornphutkul C, Aaron RK. Littman J, et al. Among authors: phornphutkul c. Biomedicines. 2023 Sep 25;11(10):2625. doi: 10.3390/biomedicines11102625. Biomedicines. 2023. PMID: 37892999 Free PMC article.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: phornphutkul c. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 Free PMC article.
101 results