Physicians within the network collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures.
Featured publications
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
December 1, 2024
Sharma P, McFadden JR, Frost FG, Markello TC, Grange DK, Introne WJ, Gahl WA, Malicdan MCV. Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features. Hum Genet. 2024 Dec;143(12):1445-1457. doi: 10.1007/s00439-024-02708-8. Epub 2024 Oct 25. PMID: 39453476; PMCID: PMC11576897.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
September 1, 2024
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. PMID: 38847193.
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathy
August 21, 2024
Grange DK, Wegner DJ, Wambach JA, Sisco KA, Stone SI, Sheehan JH, Ramsey KM, Narayanan V, Rauen KA, Cole FS; Undiagnosed Diseases Network. Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathy. Am J Med Genet A. 2024 Aug 21:e63854. doi: 10.1002/ajmg.a.63854. Epub ahead of print. PMID: 39166407.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
May 4, 2023
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. PMID: 37054711; PMCID: PMC10183469.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C
February 8, 2022
Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119. PMID: 35121658; PMCID: PMC8832968.
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome
November 1, 2022
King KA, Wegner DJ, Bucelli RC, Shapiro J, Paul AJ, Dickson PI, Wambach JA; Undiagnosed Disease Network (UDN). Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome. Neurol Genet. 2022 Nov 1;8(6):e200036. doi: 10.1212/NXG.0000000000200036. PMID: 36524104; PMCID: PMC9747150.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome
May 1, 2020
Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020 May;182(5):1053-1065. doi: 10.1002/ajmg.a.61518. Epub 2020 Feb 21. PMID: 32083401; PMCID: PMC7295006.