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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: lachman hm. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572
KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons.
Yheskel M, Hatch HAM, Pedrosa E, Terry BK, Siebels AA, Zheng XY, Blok LER, Fencková M, Sidoli S, Schenck A, Zheng D, Lachman HM, Secombe J. Yheskel M, et al. Among authors: lachman hm. Nucleic Acids Res. 2024 Apr 10:gkae261. doi: 10.1093/nar/gkae261. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38597673
Postinfectious Inflammation, Autoimmunity, and Obsessive-Compulsive Disorder: Sydenham Chorea, Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection, and Pediatric Acute-Onset Neuropsychiatric Disorder.
Vreeland A, Calaprice D, Or-Geva N, Frye RE, Agalliu D, Lachman HM, Pittenger C, Pallanti S, Williams K, Ma M, Thienemann M, Gagliano A, Mellins E, Frankovich J. Vreeland A, et al. Among authors: lachman hm. Dev Neurosci. 2023;45(6):361-374. doi: 10.1159/000534261. Epub 2023 Sep 22. Dev Neurosci. 2023. PMID: 37742615 Free article. Review.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Lin JR, Zhao Y, Jabalameli MR, Nguyen N, Mitra J; International 22q11.DS Brain and Behavior Consortium; Swillen A, Vorstman JAS, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Owen MJ, Williams NM, Bassett AS, McDonald-McGinn DM, Gur RE, Bearden CE, Morrow BE, Lachman HM, Zhang ZD. Lin JR, et al. Among authors: lachman hm. Mol Psychiatry. 2023 May;28(5):2071-2080. doi: 10.1038/s41380-023-02009-y. Epub 2023 Mar 3. Mol Psychiatry. 2023. PMID: 36869225
Reader Response: Lack of Association of Group A Streptococcal Infections and Onset of Tics: European Multicenter Tics in Children Study.
Gupta R, Agalliu D, Spalice A, Lachman HM, Ubhi T, Chang K, Frankovich J, Fasth A, Johnson M, Fernell E, Walles I, Bejerot S, van der Spek PJ, Cunningham JL. Gupta R, et al. Among authors: lachman hm. Neurology. 2022 Sep 6;99(10):445-446. doi: 10.1212/WNL.0000000000201151. Neurology. 2022. PMID: 36219800 No abstract available.
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing.
Trifiletti R, Lachman HM, Manusama O, Zheng D, Spalice A, Chiurazzi P, Schornagel A, Serban AM, van Wijck R, Cunningham JL, Swagemakers S, van der Spek PJ. Trifiletti R, et al. Among authors: lachman hm. Sci Rep. 2022 Jun 30;12(1):11106. doi: 10.1038/s41598-022-15279-3. Sci Rep. 2022. PMID: 35773312 Free PMC article.
101 results