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NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.
Rushforth R, Shamseldin HE, Costantino N, Michaels JR, Sawyer SL, Osmond M, Kurdi W, Abdulwahab F, DiStasio A; Care4Rare Canada Consortium; Boycott KM, Alkuraya FS, Stottmann RW. Rushforth R, et al. Among authors: boycott km. medRxiv [Preprint]. 2025 Jan 17:2025.01.16.25320041. doi: 10.1101/2025.01.16.25320041. medRxiv. 2025. PMID: 39867373 Free PMC article. Preprint.
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
Degeling K, Tagimacruz T, MacDonald KV, Seeger TA, Fooks K, Venkataramanan V, Boycott KM, Bernier FP, Mendoza-Londono R, Hartley T, Hayeems RZ, Marshall DA; Care4Rare Canada. Degeling K, et al. Among authors: boycott km. Appl Health Econ Health Policy. 2024 Dec 30. doi: 10.1007/s40258-024-00936-7. Online ahead of print. Appl Health Econ Health Policy. 2024. PMID: 39739296
RICTOR variants are associated with neurodevelopmental disorders.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, Jiang J, Spinnhirny P, Zimmermann L, Boucher P, Chung CWT, Elserafy N, Blair EM, Li D, Elisabeth B, Kotzaeridou U, Karch S, Wagner M, Lunsing RJ, Pfundt R, Boycott KM, Bruel AL, Mau-Them FT, Moutton S, Conti V, Mei D, Cetica V, Guerrini R, Brunet T, Rump P, Mussa A, Brusco A, Lemire G, de Vries BBA, Miao Z, Isidor B, Bahram S. Carapito R, et al. Among authors: boycott km. Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39738822
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.
Hayeems RZ, Luca S, Xiao B, Boswell-Patterson C, Lavin Venegas C, Abi Semaan CR, Kolar T, Myles-Reid D, Chad L, Dyment D, Boycott KM, Lazier J, Ungar WJ, Armour CM. Hayeems RZ, et al. Among authors: boycott km. Genet Med. 2025 Jan;27(1):101306. doi: 10.1016/j.gim.2024.101306. Epub 2024 Oct 24. Genet Med. 2025. PMID: 39489893
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: boycott km. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Venkateswaran S, Michaud J, Ito Y, Geraghty M, Lewis EC, Ellezam B, Boycott KM, Dyment DA, Kernohan KD; Care4Rare Canada Consortium. Venkateswaran S, et al. Among authors: boycott km. Mov Disord. 2024 Nov;39(11):2102-2109. doi: 10.1002/mds.29938. Epub 2024 Sep 3. Mov Disord. 2024. PMID: 39224955
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Haghshenas S, Karimi K, Stevenson RE, Levy MA, Relator R, Kerkhof J, Rzasa J, McConkey H, Lauzon-Young C, Balci TB, White-Brown AM, Carter MT, Richer J, Armour CM, Sawyer SL, Bhola PT, Tedder ML, Skinner CD, van Rooij IALM, van de Putte R, de Blaauw I, Koeck RM, Hoischen A, Brunner H, Esteki MZ, Pelet A, Lyonnet S, Amiel J, Boycott KM, Sadikovic B. Haghshenas S, et al. Among authors: boycott km. Am J Hum Genet. 2024 Aug 8;111(8):1643-1655. doi: 10.1016/j.ajhg.2024.07.005. Epub 2024 Jul 31. Am J Hum Genet. 2024. PMID: 39089258
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: boycott km. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM; Care4Rare Canada Consortium; Bober MB, Boycott KM, Murshed M. Gourgas O, et al. Among authors: boycott km. Nat Commun. 2024 Apr 30;15(1):3655. doi: 10.1038/s41467-024-47898-x. Nat Commun. 2024. PMID: 38688929 Free PMC article. No abstract available.
287 results