Recent publications
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy
January 1, 2025
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. 2025 Jan;197(1):e63854. doi: 10.1002/ajmg.a.63854. Epub 2024 Aug 21. PMID: 39166407.
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
December 24, 2024
Shinawi M, Wegner DJ, Paul AJ, Buchser W, Schmidt R, Sharma J, Sardiello M, Sisco K, Manwaring L, Reynolds M, Fulton R, Fronick C, Shaver A, Huang TY, Carroll A, Roessler K, Halpern AL; Undiagnosed Diseases Network; Dickson PI, Wambach JA. Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5. Mol Genet Metab. 2025 Jan;144(1):109004. doi: 10.1016/j.ymgme.2024.109004. Epub 2024 Dec 24. PMID: 39742826.
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.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure
January 1, 2024
Wambach JA, Wegner DJ, Kitzmiller J, White FV, Heins HB, Yang P, Paul AJ, Granadillo JL, Eghtesady P, Kuklinski C, Turner T, Fairman K, Stone K, Wilson T, Breman A, Smith J, Schroeder MC, Neidich JA, Whitsett JA, Cole FS. Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure. Am J Respir Cell Mol Biol. 2024 Jan;70(1):78-80. doi: 10.1165/rcmb.2023-0156LE. PMID: 38156804; PMCID: PMC10768837.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
February 1, 2023
Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA. Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. Pediatr Nephrol. 2023 Feb;38(2):605-609. doi: 10.1007/s00467-022-05616-z. Epub 2022 Jun 13. PMID: 35695966; PMCID: PMC9744956.
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.
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency
May 1, 2022
Xu KK, Wegner DJ, Geurts LC, Heins HB, Yang P, Hamvas A, Eghtesady P, Sweet SC, Sessions Cole F, Wambach JA. Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency. Pediatr Pulmonol. 2022 May;57(5):1325-1330. doi: 10.1002/ppul.25862. Epub 2022 Mar 17. PMID: 35170262.
First Steps toward Personalized Therapies for ABCA3 Deficiency
April 1, 2022
Wambach JA, Nogee LM, Cole FS. First Steps toward Personalized Therapies for ABCA3 Deficiency. Am J Respir Cell Mol Biol. 2022 Apr;66(4):349-350. doi: 10.1165/rcmb.2021-0405ED. PMID: 35077664; PMCID: PMC8990116.
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.
Recent publications
- Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkUndiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.Research output: Contribution to journal › Article › peer-review
- Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathyThe Undiagnosed Diseases Network, Jan 2025, In: American Journal of Medical Genetics, Part A. 197, 1, e63854.Research output: Contribution to journal › Article › peer-review
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.Research output: Contribution to journal › Article › peer-review
- LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsUndiagnosed Diseases Network, Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W. P., Leung, Y. Y., Harms, M. B., Vardarajan, B., Heinzen, E. L., Acosta, M. T., Adam, M., Izumi, K., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A. & Bademci, G. & 181 others, Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. […]
- Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathyUndiagnosed Diseases Network, Nov 2024, In: American Journal of Medical Genetics, Part A. 194, 11, e63798.Research output: Contribution to journal › Article › peer-review
- Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderUndiagnosed Diseases Network, Nov 2024, In: Pediatric Neurology. 160, p. 45-53 9 p.Research output: Contribution to journal › Article › peer-review
- Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyUndiagnosed Diseases Network, Nov 2024, In: Genetics in Medicine. 26, 11, 101218.Research output: Contribution to journal › Article › peer-review
- The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted onesUndiagnosed Diseases Network, Oct 2024, In: Genetics in Medicine. 26, 10, 101203.Research output: Contribution to journal › Article › peer-review
- Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesUndiagnosed Diseases Network, Sep 2024, In: Genetics in Medicine. 26, 9, 101174.Research output: Contribution to journal › Article › peer-review
- The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohortfor the chILD Registry Collaborative, Nevel, R. J., Deutsch, G. H., Craven, D., Deterding, R., Fishman, M. P., Wambach, J. A., Casey, A., Krone, K., Liptzin, D. R., O'Connor, M. G., Kurland, G., Taylor, J. B., Gower, W. A., Hagood, J. S., Conrad, C., Tam-Williams, J. B., Fiorino, E. K., Goldfarb, S. & Sadreameli, S. C. & 16 others, Nogee, L. M., Montgomery, G., Hamvas, A., Laguna, T. A., Bansal, M., Lew, C., Santiago, M., Popova, A., De, A., Chan, M., Powers, M. […]