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Page 1
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: bhai p. HGG Adv. 2024 Nov 4;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Online ahead of print. HGG Adv. 2024. PMID: 39501558 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: bhai p. HGG Adv. 2024 Oct 10;5(4):100337. doi: 10.1016/j.xhgg.2024.100337. Epub 2024 Sep 21. HGG Adv. 2024. PMID: 39306848 Free PMC article. No abstract available.
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review.
Mortuza S, Chin-Yee B, James TE, Chin-Yee IH, Hedley BD, Ho JM, Saini L, Lazo-Langner A, Schenkel L, Bhai P, Sadikovic B, Keow J, Sangle N, Hsia CC. Mortuza S, et al. Among authors: bhai p. Curr Oncol. 2024 Mar 29;31(4):1762-1773. doi: 10.3390/curroncol31040134. Curr Oncol. 2024. PMID: 38668037 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: bhai p. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Clinical Features and Long-Term Outcomes of a Pan-Canadian Cohort of Adolescents and Young Adults with Myeloproliferative Neoplasms: A Canadian MPN Group Study.
England JT, Szuber N, Sirhan S, Dunne T, Cerquozzi S, Hill M, Villeneuve PJA, Ho JM, Sadikovic B, Bhai P, Krishnan N, Dowhanik S, Hillis C, Capo-Chichi JM, Tsui H, Cheung V, Gauthier K, Sibai H, Davidson MB, Bankar A, Kotchetkov R, Gupta V, Maze D. England JT, et al. Among authors: bhai p. Leukemia. 2024 Mar;38(3):570-578. doi: 10.1038/s41375-024-02155-4. Epub 2024 Feb 6. Leukemia. 2024. PMID: 38321107
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: bhai p. Genet Med. 2024 Mar;26(3):101050. doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18. Genet Med. 2024. PMID: 38126281 Free article.
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Haghshenas S, Foroutan A, Bhai P, Levy MA, Relator R, Kerkhof J, McConkey H, Skinner CD, Caylor RC, Tedder ML, Stevenson RE, Sadikovic B, Schwartz CE. Haghshenas S, et al. Among authors: bhai p. Eur J Hum Genet. 2023 Aug;31(8):879-886. doi: 10.1038/s41431-023-01313-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797465 Free PMC article.
29 results