2024
- Gonzalez C, Cohen MJ, Hong J, Calame D, Marri K, Harpavat S, Wangler MF*, Mysore K* (2024). Neuropathy post-liver transplantation in Zellweger Spectrum Disorder: A Case Report. Accepted. Am J Med Genet A
- Booth KTA, Jangam S, Chui MMC, Treat K, Graziani L, Soldano A, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Batista J, Lancu D, Joss SK, Mak CCY, Kwong AY, Bellen HJ, BCM Center for Precision Medicine Models, Conboy E, Sanges R, Wangler MF, Chung BHY, Vetrini F (2024). De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia. Accepted Brain. Available on SSRN https://doi.org/10.1101/2023.07.15.23292630.
- German RJ, Vuocolo B, Vossaert L, Saba L, The Texome Project, Wangler MF*, Bacino C*, Texome Project (2024). Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. Aug 21:e63849 PMID: 39166703
- Huang Y, Jay KL, Huang A Y-W, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca, O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF*, Marinez-Agosto JA* (2024). Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet. Med. Jul 19;26(11);101208 PMID: 39036895
- Vuocolo B, German R, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, Achi DE, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, The Texome Project*, Owen N, Vossaert L, Liu P, Bellen H, Wangler MF* (2024). Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet. Med. Jun;26(6):101102 PMID: 38431799
2023
German RJ, Vuocolo B, Vossaert L, Saba L, The Texome Project, Wangler MF*, Bacino C (2023). Novel Heterozygous Missense Variant in DNMT3A in a Patient with Carotid Paragangliomas (2023). Under review. Am J Med Genet A.
German RJ, Vuocolo B, Vossaert L, Lewis RA, Saba L, The Texome Project, Wangler MF*, Nagamani S (2023). Novel Hemizygous Single Nucleotide Duplication in RPGR in a patient with Retinal Dystrophy and Sensorineural Hearing Loss. In revision. Mol Genet Genomic Med.
Booth KTA, Jangam S, Chui MMC, Treat K, Graziani L, Soldano A, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Batista J, Lancu D, Joss SK, Mak CCY, Kwong AY, Bellen HJ, BCM Center for Precision Medicine Models, Conboy E, Sanges R, Wangler MF, Chung BHY, Vetrini F (2023). De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia. Submitted. Available on SSRNhttps://doi.org/10.1101/2023.07.15.23292630
Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, Miller MJ(2023). Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders. Mol Genet Metab 140(3):107680. doi: 10.1016/j.ymgme.2023.107680. Online ahead of print. PMID: 37567036
Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Wangler MF*, Carrie A (2023). Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population. Mol Genet Genomic Med. e2272. doi: 10.1002/mgg3.2272. Online ahead of print. PMID: 37614148
Yamamoto S, Kanca O, Wangler MF*, Bellen HJ (2023). Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2023 Jul 25. doi: 10.1038/s41576-023-00633-6. Online ahead of print. PMID: 37491400
Guichard A, Lu S, Kanca O, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay KL, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, Lin WW, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S, Bellen HJ, Bier E(2023). A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 42(8):112842. doi: 10.1016/j.celrep.2023.112842. Online ahead of print. PMID: 37480566.
Jangam S, Briere L, Jay K, Andrews J, Walker M, High F, Yamamoto S, Sweetser D, Wangler MF* (2023). A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. iyad110. doi:10.1093/genetics/iyad110. PMID: 37314226
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 (2023). Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. PMID: 37054711
Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network; Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF* (2023). De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 Mar 31; 100833. doi: 10.1016/j.gim.2023.100833. PMID: 37013900
2022
Lyons-Warren AM, Wangler MF, Wan YW (2022). Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder. Int J Mol Sci. 23(21):13030. doi: 10.3390/ijms232113030. PMID: 36361815
Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ (2022). The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 109(11):2092. doi: 10.1016/j.ajhg.2022.10.001 PMID: 36332614
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJ (2022). De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 109(10):1932-1943. doi: 10.1016/j.ajhg.2022.09.005 PMID: 36206744
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA (2022). Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. PMID: 35796094
Grosso BJ, Kramer AA, Tyagi S, Bennett DF, Tifft CJ, D'Souza P, Wangler MF, Macnamara EF, Meza U, Bannister RA (2022). Complex effects on Cav2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder. Sci Rep. 12(1):9186. doi: 10.1038/s41598-022-12789-y PMID: 35655070
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ (2022). The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 31(17):2934-2950. doi: 10.1093/hmg/ddac085. Epub 2022 Apr 1. PMID: 35405010
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A (2022). Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data. Sci Rep. 12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT (2022). An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Ann Neurol. 92(1):138-153. doi: 10.1002/ana.26359. c. PMID: 35340043.
Marcogliese PC, Deal SL,Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan HL, Longley CM, Chao HT, Chung H, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali C, Barakat S, van Dooren MF, Wilke M, Slegtenhorst MV, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF*, Yamamoto S* (2022). Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 38(11): 110517. doi: 10.1016/j.celrep.2022.110517 PMID: 35294868.
Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY; Undiagnosed Diseases Network, Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S (2022). ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnoed disease research. Hum Mutat. 43(6): 743-759. doi: 10.1002/humu.24364. c. Epub 2022 Feb 27 PMID: 35224820.
Sharma S, Hourigan B, Patel Z, Rosenfeld JA, Chan KM, Wangler MF, Yi JS, Lehman A; CAUSES Study, Horvath G, Cloos PA, Tan Q (2022). Novel CIC variants identified in individuals with neurodevelopmental phenotypes. Hum Mutat. 43(7): 889-899. doi: 10.1002/humu.24346. Epub 2022 Feb 14. PMID: 35165976.
2021
Manor J, Chung H, Bhagwat PK, Wangler MF* (2021). ABCD1 and X‐linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. J Neurosci Res. 99(12):3170-3181. doi: 10.1002/jnr.24953 Epub 2021 Oct 29 PMID: 34716609
Khayat MM, Hu J, Jiang Y, Li H, Chander V, Dawood M, Hansen AW, Li S, Friedman J, Cross L, Bijlsma EK, Ruivenkamp CAL, Sansbury FH, Innis JW, O'Shea JO, Meng Q, Rosenfeld JA, McWalter K, Wangler MF, Lupski JR, Posey JE, Murdock D, Gibbs RA (2021). AHDC1 missense mutations in Xia-Gibbs syndrome. HGG Adv. 2(4):100049. doi: 10.1016/j.xhgg.2021.100049. Epub 2021 Aug 10 PMID: 34950897
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ (2021). Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetic Med. 23(10): 1889-1900. doi:10.1038/s41436-021-01216-8. Epub 2021 Jun 10. PMID: 34113007
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Bellen HJ, Tan QK (2021). TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 108(9): 1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. PMID: 34314705
Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C; Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S (2021). Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 30(14)1283-1292. doi:10.1093/hmg/ddab110. Epub 2021 Apr 16. PMID: 33864376
Baldridge D, Wangler MF*, Bowman AN, Yamamoto S; Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M (2021). Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 16(1): 206. doi: 10.1186/s13023-021-01839-9. PMID: 33962631
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. (2021) MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 89(4): 828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. PMID: 33443317
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA (2021). Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome. Hum Mutat. 42(5)577-519; doi: 10.1002/humu.24190. Epub 2021 Mar 6. PMID: 33644933
Hansen AW, Arora P, Khayat MM, Smith LJ, Lewis AM, Rossetti LZ, Jayaseelan J, Cristian I, Haynes D, DiTroia S, Meeks N, Delgado MR, Rosenfeld JA, Pais L, White SM, Meng Q, Pehlivan D, Liu P, Gingras MC, Wangler MF, Muzny DM, Lupski JR, Kaplan CD, Gibbs RA (2021). Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2(1): 100014. doi: 10.1016/j.xhgg.2020.100014. Epub 2020 Nov 20. PMID: 33665635
Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC; Undiagnosed Diseases Network, Wangler MF* (2021). Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1-associated neurodevelopmental disorder, including a previously unreported retinal phenotype. Mol Genet Genomic Med. 9(1): e1542. doi: 10.1002/mgg3.1542. Epub 2020 Dec 22. PMID: 33350591
Sze SK, Lederman HM, Crawford TO, Wangler MF, Lewis AM, Kastan MB, Dibra HK, Taylor AMR, Wechsler DS. (2021) Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. J Pediatr Hematol Oncol. 43(1): e138-e140. doi: 10.1097/MPH.0000000000001672 PMID: 31743320
2020
Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler MF, Yamamoto S, Kadoch C, Scott DA, Bellen HJ (2020). BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. PMID: 33232675
Martinez-Moreno R, Selga E, Riuró H, Carreras D, Parnes M, Srinivasan C, Wangler MF, Pérez GJ, Scornik FS, Brugada R (2020). An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders. Front Cell Dev Biol. 8:528742. doi:10.3389/fcell.2020.528742. eCollection 2020. PMID: 33134290
Schulze KV, Hanchard NA, Wangler MF* (2020). Biases in arginine codon usage correlate with genetic disease risk. Genet Med. 22(8):1407-1412. doi: 10.1038/s41436-020-0813-6. Epub 2020 May 6. PMID: 32371920
Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. (2020) De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 29(9):1568-1579. Epub 2020 Apr 30. doi: 10.1093/hmg/ddaa081. PMID: 32356556
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. (2020) De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 106(5):717-725. doi: 10.1016/j.ajhg.2020.04.001. Epub 2020 Apr 23. PMID: 32330417
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S; Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ (2020). Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 106(4):589-606.e6. doi: 10.1016/j.neuron.2020.02.021. Epub 2020 Mar 12. PMID: 32169171
Liu J, Ding G, Zou K, Jiang Z, Zhang J, Lu Y, Pignata A, Venner E, Liu P, Liu Z, Wangler MF*, Sun Z* (2020). Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. Mol Genet Genomic Med. 8(3): e1130. doi: 10.1002/mgg3.1130. Epub 2020 Jan 23. PMID: 31971667
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF* (2020). Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 41(3):641-654. doi:10.1002/humu.23960. Epub 2019 Dec 19. PMID: 31769566
Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF* (2020). A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. G3 (Bethesda). 10(1):69-77. doi: 10.1534/g3.119.400803. PMID: 31767637
2019
Carrasco D, Magoulas P, Scull JC, Jarrell JA, Lalani SR, Wangler MF* (2019). Digital necrosis in an infant with severe spinal muscular atrophy. Neurol Genet. 5(5): e361. doi:10.1212/NXG.0000000000000361. eCollection 2019 Oct. PMID: 31742229
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. (2019) A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 105(5):974-986 doi: 10.1016/j.ajhg.2019.09.027 Epub 2019 Oct 24. PMID: 31668702
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. (2019) Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 10(1):4679. doi: 10.1038/s41467-019-12435-8 PMID: 31616000
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM (2019). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p. Met1149, p. Arg1276, and p. Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 41(1)299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 8. PMID:31595648
Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S (2019). In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. (150). doi: 10.3791/59658. PMID:31498321
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV (2019). De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. PMID:31327508
Bellen HJ, Wangler MF, Yamamoto S (2019). The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 28(R2):R207-R214. doi: 10.1093/hmg/ddz135. Epub 2019 Jun 22. PMID:31227826
Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF* (2019). De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 5(3):a003673. doi: 10.1101/mcs.a003673. Epub 2019 Mar 8. PMID:30850373
Murdock DR, Jiang Y, Wangler MF, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA (2019). Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 5(3):a003608. doi: 10.1101/mcs.a003608. Epub 2019 Jan 8. PMID:30622101
2018
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA (2018). Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10. PMID:30304647
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM (2018). Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 21(4):867-876. doi: 10.1038/s41436-018-0269-0 Epub 2018 Sep 7 PMID:30190611
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM (2018). IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. PMID:30057031
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM (2018). De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet.137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8 PMID:29740699
Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S (2018). Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 27(14):2454-2465. doi: 10.1093/hmg/ddy146. Epub 2018 May 2 PMID:297269302
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. (2018) The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. PMID:29696776
Tan KL, Haelterman NA, Kwartler CS, Regalado ES, Lee PT, Nagarkar-Jaiswal S, Guo DC, Duraine L, Wangler MF; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Lin G, Milewicz DM, Bellen HJ (2018). Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell. 45(2):226-244. doi: 10.1016/j.devcel.2018.03.020 PMID:29689197
Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ (2018). The expanding neurological phenotype of DNM1L-related disorders. Brain. 141(4): e28. doi: 10.1093/brain/awy024 PMID:29529134
Bellettato CM, Hubert L, Scarpa M, Wangler MF* (2018). Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases. Pediatr Clin North Am. 65(2):353-373. doi: 10.1016/j.pcl.2017.11.011. PMID:29502918
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT (2018). Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22. PMID:29478781
Wangler MF*, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH (2018). A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. PMID:29419819
2017
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR (2017). Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. PMID 28973083.
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ (2017). Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 207(1):9-27. doi: 10.1534/genetics.117.203067. Epub 2017 Aug 31. PMID 28874452
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF*(2017). Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul. PMID 28742085
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Coban-Akdemir Z, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMF, Alves MM (2017). Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8. PMID 28602422
Wangler MF*, Chao YH, Bayat V, Giagtzoglu N, Putluri, N, Coarfa C, Faust J, McNew J, Moser A,. Sardiello M, Baes M, Bellen HJ (2017). Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse PLoS Genetics13(6):e1006825. doi: 10.1371/journal.pgen.1006825. eCollection 2017 Jun. PMID: 28640802
Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Aram Comjean A, Mohr S, Members of UDN, Perrimon N, Liu Z, Bellen HJ (2017). MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome. Am J Hum Genet. 100(6):843-853. doi: 10.1016/j.ajhg.2017.04.010. Epub 2017 May 11. PMID 28502612 (Featured publication best of AJHG 2017)
Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR (2017). Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 9(1):26. doi: 10.1186/s13073-017-0412-6. PMID:28327206
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff M, Friedman JN, Adkemir ZC, Walley N, Mikati MA, Kranz PG, Jasien, J, McConkie-Rosell A, McDonald, M, Wechsler S, Freemark M, Kansagra S, Freedman S, Bali D, Zamora FM, Bale S, Nelson S, Lee H, Dorrani N, UCLA Clinical Genomics Center, Members of the UDN, Goldstein D, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF*, Shashi V* (2017). A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay. Am J Hum Genet. 100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. PMID 28132692
Wangler MF, Hu Y, Shulman J (2017). Drosophila and Genome-wide Association Studies: A Review and Resource for the Functional Dissection of Human Complex Traits. Dis Model Mech. 10(2):77-88. doi: 10.1242/dmm.027680. PMID:28151408
Yoon WH, Sandoval H, Nagarkar Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Arboleda V, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ (2017). Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron93(1):115-131. doi: 10.1016/j.neuron.2016.11.038. Epub 2016 Dec 22. PMID: 28017472
Chao H-T, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty A, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Johnson TK, Warr CG, Members of the UDN, Yamamoto S, Adams D., Markello TC, Gahl WA, Bellen HJ, Wangler MF* Malicdan, MC* (2017). A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22. PMID: 28017372
2016
Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R. Wangler MF* (2016). Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Mol Genet Metab Rep. 9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec. PMID: 27872819
Donti TR, Cappuccio G, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH (2016). Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Jul 27. PMID: 27504266
Chao Y-H, Robak L, Xia F, Koenig M, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MF* (2016). Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 25(9):1846-56 doi: 10.1093/hmg/ddw059. Epub 2016 Feb 29. PMID: 26931468
2014-2015
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Hacia JG, Bose M (2015). Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. PMID: 26750748
Bacino C , Chao Y-H, Seto E, Lotze T, Xia F, Moser A, Wangler MF* (2015). A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey. Mol Genet Metab Rep. 5:15-18. doi: 10.1016/j.ymgmr.2015.09.001. PMID:26644994
Wangler, MF, Bayat V, Bellen HJ (2015). A mitochondrial translation defect identified by whole-exome sequencing expands the phenotypic spectrum for MARS2. Human Mutation 36(6):i-iii576-656. doi: 10.1002/humu.22811 Epub 2015 May 18.
Wangler, MF, Yamamoto S, Bellen, H (2015). Fruitflies in Biomedical Research. Genetics 199(3):639-53. doi: 10.1534/genetics.114.171785. Epub 2015 Jan 26. PMID:25624315 (Faculty of 1000)
Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LM, de Ligt J, Jhangiani S, Xie Y, Tsang S, Parman Y, Sivaci M, Battaloglu E, Muzny DM, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Schulze KL, Boerwinkle EA, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF*, Bellen HJ* (2014). A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases. Cell, 159(1):200-214. doi: 10.1016/j.cell.2014.09.002. PMID: 25259927; (Faculty of 1000).
Faust, JE, Manisundaram A, Ivanova PT, Milne SB, Summerville JB, Brown HA, Wangler MF, Stern M, McNew JA (2014). Peroxisomes are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster. PLoS One 9(6): e100213. doi: 10.1371/journal.pone.0100213. eCollection 2014. PMID: 24945818
Xia F, Bainbridge M, Tan TY, Wangler MF, Scheuerle A, Zackai EH, Sutton VR, Nalam R, Zhu W, Nash M, Ryan M, Lee J, Lupski JR, Beaudet AL, Plon SE, Boerwinkle EA, Eng CM, Muzny DM, Yang Y, Gibbs RA (2014). De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. PMID: 24791903
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A (2014). Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genetics 10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar. PMID:24676022
2005-2013
Wangler MF, Chavan R, Hicks MJ, Nuchtern JG, Hegde M, Plon SE, Thompson PA (2013). Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. J Pediatr Hematol Oncol. 35(4):323-8. doi: 10.1097/MPH.0b013e318282db11. PMID:23426006
Wangler MF, Reiter LT, Zimm G, Trimble-Morgan J, Wu J, Bier E (2011). Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila. Protein & Cell. 2(7):554-63. doi: 10.1007/s13238-011-1073-7. Epub 2011 Aug 6. PMID:21822800
Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Wong LJ, Scagllia F (2011). Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 103(2):153-60. doi: 10.1016/j.ymgme.2011.02.014. Epub 2011 Feb 26. PMID:21414825
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH (2010). Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28. PMID: 21035103
Plunkett J, Feitosa MF, Trusgnich M, Wangler M, Palomar L, Kistka ZA, DeFranco EA, Shen T, Stormo A, Puttonen H, Hallman M, Haataja R, Fellman V, Peltonen L, Palotie A, Daw EW, An P, Rice T, Teramo K, Borecki I, Muglia LJ (2009). Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth. Hum Hered. 68(3):209-19. doi: 10.1159/000224641. Epub 2009 Jun 11. PMID: 19521103
Kistka ZA, Palomar L, Lee KA, Boslaugh S, Wangler MF, Cole FS, DeBaun MR, Muglia LJ (2007). Racial disparity in the frequency of recurrence of preterm birth. Am J Ob Gynecol. 196(2): 131.e1-6. doi: 10.1016/j.ajog.2006.06.093. PMID: 17306652
Chang AS, Moley KH, Wangler M, Feinberg AP, DeBaun MR (2005). Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients. Fertil Steril. 83(2):349-54. doi: 10.1016/j.fertnstert.2004.07.964. PMID:15705373
Wangler MF, An P, Feinberg AP, Province M, DeBaun MR (2005). Inheritance pattern of Beckwith–Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet A. 137(1):16-21. doi: 10.1002/ajmg.a.30827. PMID:16007611
Wangler MF, Chang AS, Moley KH, Feinberg AP, DeBaun MR. (2005) Factors associated with preterm delivery in mothers of children with Beckwith–Wiedemann syndrome: a case cohort study from the BWS registry. Am J Med Genet A. 134A(2):187-91. doi: 10.1002/ajmg.a.30595. PMID:15723285