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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16.
Am J Hum Genet. 2021.
PMID: 33596411
Free PMC article.
Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature.
Castle AMR, Empringham B, Pinto LM, Villani A, Kanwar N, Abbott LS, Sawyer SL.
Castle AMR, et al.
Pediatr Hematol Oncol. 2023;40(5):506-515. doi: 10.1080/08880018.2022.2153951. Epub 2023 Jan 10.
Pediatr Hematol Oncol. 2023.
PMID: 36625737
Review.
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B.
Pérez Baca MDR, et al.
Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26.
Am J Hum Genet. 2024.
PMID: 38412861
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Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Castle AMR, Salian S, Bassan H, Sofrin-Drucker E, Cusmai R, Herman KC, Heron D, Keren B, Johnstone DL, Mears W, Morlot S, Nguyen TTM, Rock R, Stolerman E, Russo J, Burns WB, Jones JR, Serpieri V, Wallaschek H, Zanni G, Dyment DA, Campeau PM.
Castle AMR, et al.
Neurol Genet. 2021 Oct 21;7(6):e631. doi: 10.1212/NXG.0000000000000631. eCollection 2021 Dec.
Neurol Genet. 2021.
PMID: 34703884
Free PMC article.
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Blindness Caused by a Junk Food Diet.
Castle AMR, Chakraborty P, Geraghty M.
Castle AMR, et al.
Ann Intern Med. 2020 Apr 21;172(8):575. doi: 10.7326/L20-0015.
Ann Intern Med. 2020.
PMID: 32311707
No abstract available.
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Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion.
Castle AMR, Ramien ML, Kanigsberg N, El Demellawy D, McGowan-Jordan J, Beaulieu Bergeron M, Armour CM.
Castle AMR, et al.
Pediatr Dermatol. 2022 Jan;39(1):107-111. doi: 10.1111/pde.14850. Epub 2021 Dec 20.
Pediatr Dermatol. 2022.
PMID: 34929758
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