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