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Page 1
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: goldenberg p. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Aortopathy in the 7q11.23 microduplication syndrome.
Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. Parrott A, et al. Among authors: goldenberg p. Am J Med Genet A. 2015 Feb;167A(2):363-70. doi: 10.1002/ajmg.a.36859. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428557 Free article.
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Kang SK, et al. Among authors: goldenberg p. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. Ann Neurol. 2019. PMID: 31600826 Free PMC article.
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE. Levin MD, et al. Among authors: goldenberg p. Am J Med Genet A. 2018 Aug;176(8):1711-1722. doi: 10.1002/ajmg.a.38854. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055033 Free PMC article.
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Bayat A, Pendziwiat M, Obersztyn E, Goldenberg P, Zacher P, Döring JH, Syrbe S, Begtrup A, Borovikov A, Sharkov A, Karasińska A, Giżewska M, Mitchell W, Morava E, Møller RS, Rubboli G. Bayat A, et al. Among authors: goldenberg p. Front Genet. 2021 May 11;12:663643. doi: 10.3389/fgene.2021.663643. eCollection 2021. Front Genet. 2021. PMID: 34046058 Free PMC article.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: goldenberg p. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjö A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Garza Flores A, et al. Among authors: goldenberg p. Front Genet. 2023 Jun 23;14:1174046. doi: 10.3389/fgene.2023.1174046. eCollection 2023. Front Genet. 2023. PMID: 37424725 Free PMC article.
Cerebellar cognitive affective syndrome: insights from Joubert syndrome.
Hickey CL, Sherman JC, Goldenberg P, Kritzer A, Caruso P, Schmahmann JD, Colvin MK. Hickey CL, et al. Among authors: goldenberg p. Cerebellum Ataxias. 2018 Mar 21;5:5. doi: 10.1186/s40673-018-0085-y. eCollection 2018. Cerebellum Ataxias. 2018. PMID: 29568536 Free PMC article.
53 results