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Page 1
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 Free PMC article.
Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of CHD8 heterozygous cerebral organoids.
Astorkia M, Liu Y, Pedrosa EM, Lachman HM, Zheng D. Astorkia M, et al. Among authors: lachman hm. bioRxiv [Preprint]. 2023 Sep 27:2023.09.27.559752. doi: 10.1101/2023.09.27.559752. bioRxiv. 2023. Update in: Heliyon. 2024 Jul 18;10(14):e34862. doi: 10.1016/j.heliyon.2024.e34862. PMID: 37808768 Free PMC article. Updated. Preprint.
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 Jun 24;52(11):6201-6219. doi: 10.1093/nar/gkae261. Nucleic Acids Res. 2024. PMID: 38597673 Free PMC article.
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL, Frankovich J, Dubin RA, Pedrosa E, Baykara RN, Schlenk NC, Maqbool SB, Dolstra H, Marino J, Edinger J, Shea JM, Laje G, Swagemakers SMA, Sinnadurai S, Zhang ZD, Lin JR, van der Spek PJ, Lachman HM. Cunningham JL, et al. Among authors: lachman hm. Dev Neurosci. 2024 Oct 11:1-20. doi: 10.1159/000541908. Online ahead of print. Dev Neurosci. 2024. PMID: 39396515 Free article.
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go.
Sandoval SO, Cappuccio G, Kruth K, Osenberg S, Khalil SM, Méndez-Albelo NM, Padmanabhan K, Wang D, Niciu MJ, Bhattacharyya A, Stein JL, Sousa AMM, Waxman EA, Buttermore ED, Whye D, Sirois CL; Cross-IDDRC Human Stem Cell Consortium; Williams A, Maletic-Savatic M, Zhao X. Sandoval SO, et al. Stem Cell Reports. 2024 Jun 11;19(6):796-816. doi: 10.1016/j.stemcr.2024.04.008. Epub 2024 May 16. Stem Cell Reports. 2024. PMID: 38759644 Free PMC article. Review.
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.
104 results