Children's Mercy Hospital

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 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 X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (2022) Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, et al. Journal article Hemoglobin A1c patterns of youth with type 1 diabetes 10 years post diagnosis from 3 continents (2021) Sherr JL, Schwandt A, Phelan H, Clements MA, Holl RW, Benitez-Aguirre PZ, Miller KM, et al. Journal article