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
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patientsUndiagnosed Diseases Network, Dec 2025, In: BioData Mining. 18, 1, 6.Research output: Contribution to journal › Article › peer-review
- Interstitial Lung Disease and Lung Cancer Associated with a Monoallelic Novel Variant in SFTPBWambach, J. A., Nogee, L. M., Spielberg, D. R., Cole, F. S., Roberts, D. M., Murphy, S. & Garcia, C. K., Jun 1 2025, In: American journal of respiratory and critical care medicine. 211, 6, p. 1085-1088 4 p.Research output: Contribution to journal › Letter › peer-review
- Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseasesfor the chILD Registry Collaborative, Apr 2025, In: Pediatric Pulmonology. 60, 4, e71073.Research output: Contribution to journal › Article › peer-review
- Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyUndiagnosed Diseases Network, Apr 2025, In: American Journal of Medical Genetics, Part A. 197, 4, e63956.Research output: Contribution to journal › Article › peer-review
- De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomaliesUndiagnosed Diseases Network, Apr 2025, In: Genetics in Medicine. 27, 4, 101369.Research output: Contribution to journal › Article › peer-review
- Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseLouvrier, C., Desroziers, T., Soreze, Y., Delgado Rodriguez, M., Thomas, L., Nau, V., Dastot-Le Moal, F., Bernstein, J. A., Cole, F. S., Damme, M., Fischer, A., Griese, M., Hinds, D., Keehan, L., Milla, C., Mohammad, H., Rips, J., Wambach, J. A., Wegner, D. J. & Amselem, S. & 6 others, Legendre, M., Giurgea, I., Karabina, S. A., Breuer, O., Coulomb l'Herminé, A. & Nathan, N., Mar 2025, In: EBioMedicine. 113, 105626.Research output: Contribution to journal › Article › peer-review
- 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
- KIF21A -associated peripheral neuropathy defined by impaired binding with TUBB3Undiagnosed Diseases Network, Jan 27 2025, In: Journal of Medical Genetics. 62, 2, p. 117-122 6 p.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
- 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