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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjö A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Garza Flores A, et al. Among authors: lachman rs. Front Genet. 2023 Jun 23;14:1174046. doi: 10.3389/fgene.2023.1174046. eCollection 2023. Front Genet. 2023. PMID: 37424725 Free PMC article.
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P, Williams F, Davagnanam I, Chan E, Murphy E, Hughes D, Quattrocchi G, Werring DJ, Lachman RH, Cipolotti L. Murphy P, et al. Among authors: lachman rh. J Inherit Metab Dis. 2022 Jul;45(4):782-795. doi: 10.1002/jimd.12472. Epub 2022 Apr 2. J Inherit Metab Dis. 2022. PMID: 34994980
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I. Barad M, et al. Among authors: lachman rs. EBioMedicine. 2020 Dec;62:103075. doi: 10.1016/j.ebiom.2020.103075. Epub 2020 Nov 23. EBioMedicine. 2020. PMID: 33242826 Free PMC article.
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM. Tan QK, et al. Among authors: lachman rs. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 29970384 Free PMC article.
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S, Li J, Sockell A, Kan MJ, Bava FA, Chen SC, Ávila-Arcos MC, Ji X, Smith E, Asadi NB, Lachman RS, Lam HYK, Bustamante CD, Butte AJ, Nolan GP. Bhattacharya S, et al. Among authors: lachman rs. Genome Res. 2018 Apr;28(4):423-431. doi: 10.1101/gr.223693.117. Epub 2018 Mar 22. Genome Res. 2018. PMID: 29567674 Free PMC article.
What Is New in Prenatal Skeletal Dysplasias?
Victoria T, Zhu X, Lachman R, Epelman M, Oliver ER, Adzick NS, Biko DM. Victoria T, et al. Among authors: lachman r. AJR Am J Roentgenol. 2018 May;210(5):1022-1033. doi: 10.2214/AJR.17.19337. Epub 2018 Mar 12. AJR Am J Roentgenol. 2018. PMID: 29528710 Review.
327 results