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For: Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, Hempel M, Kutsche K; Undiagnosed Diseases Network. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain 2020;143:2437-53. [PMID: 32761064 DOI: 10.1093/brain/awaa204] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
Number Citing Articles
1 Santos-Cortez RLP, Yarza TKL, Bootpetch TC, Tantoco MLC, Mohlke KL, Cruz TLG, Chiong Perez ME, Chan AL, Lee NR, Tobias-Grasso CAM, Reyes-Quintos MRT, Cutiongco-de la Paz EM, Chiong CM. Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies. Genes (Basel) 2021;12:566. [PMID: 33924653 DOI: 10.3390/genes12040566] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
2 Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O, Shaul-Lotan N, Slae M, Sultan M, Meiner V, Elpeleg O, Harel T. Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. Eur J Hum Genet 2021;29:977-87. [PMID: 33723354 DOI: 10.1038/s41431-021-00844-7] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]