Michael Wangler Lab

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Michael Wangler Lab Publications

Master
Content

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.