Pedigree

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, et al. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics. 2017;18(4):185-194. doi:10.1007/s10048-017-0520-x

and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle T, Schneider R, Schapiro D, et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018;29(8):2123-2138. doi:10.1681/ASN.2017121312

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, et al. Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. 2018;29(9):2418-2431. doi:10.1681/ASN.2018020180

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Nikkola E, Ko A, Alvarez M, et al. Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family. Atherosclerosis. 2017;264:58-66. doi:10.1016/j.atherosclerosis.2017.07.024

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

Luukkonen TM, Mehrjouy MM, Pöyhönen M, et al. Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes. Mol Genet Genomic Med. 2018;6(1):56-68. doi:10.1002/mgg3.346

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017;8:16077. doi:10.1038/ncomms16077

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor as the cause of microcephaly-micromelia syndrome.

Evrony GD, Cordero DR, Shen J, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor as the cause of microcephaly-micromelia syndrome. Genome Res. 2017;27(8):1323-1335. doi:10.1101/gr.219899.116

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017;101(4):525-538. doi:10.1016/j.ajhg.2017.08.015

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

Lohmann K, Redin C, Tönnies H, et al. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017;74(7):806-812. doi:10.1001/jamaneurol.2017.0666

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D, Natarajan P, Armean IM, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017;544(7649):235-239. doi:10.1038/nature22034

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