Children's Mercy Hospital

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease (2025) Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CV, Mavraki E, Elbracht M, et al. Journal article Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors (2024) Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, et al. Journal article MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway (2024) Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, et al. Journal article Cytoreductive nephrectomy in metastatic renal cell carcinoma (2024) Dahm P, Ergun O, Uhlig A, Bellut L, Risk MC, Lyon JA, Kunath F Journal article Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly (2024) Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, et al. Journal article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article Clinical practice guidelines for the care of girls and women with Turner syndrome Proceedings from the 2023 Aarhus International Turner Syndrome Meeting (2024) Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, et al. Journal article The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals (2023) Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, et al. Journal article LHX2 haploinsufficiency causes a variable neurodevelopmental disorder (2023) Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, et al. Journal article