Header Logo

MICHAEL WANGLER

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address1250 MOURSUND STREET
Houston, TX 77030
vCardDownload vCard

    Collapse Affiliation 
    Collapse groups

    Collapse Research 
    Collapse research activities and funding
    R01HG011795     (BELLEN, HUGO J ;WANGLER, MICHAEL FRANCIS)Jul 13, 2021 - Apr 30, 2026
    NIH
    Genomic medicine and gene function implementation for an underserved population
    Role: Co-Principal Investigator
    R01NS107733     (WANGLER, MICHAEL FRANCIS)Feb 1, 2021 - Dec 31, 2025
    NIH
    Neuronal Mechanisms of Metabolic and Genetic Defects of the Peroxisome
    Role: Principal Investigator
    K08NS076547     (WANGLER, MICHAEL FRANCIS)Sep 30, 2011 - Aug 31, 2016
    NIH
    Neuronal Mechanisms of Peroxisomal Biogenesis Defects in Drosophila
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galv?n NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Mar 21; 101125. PMID: 38522068.
      Citations:    Fields:    
    2. Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE, Baylor College of Medicine Center for Precision Medicine Models, Wangler MF, Yamamoto S, Chung WK, Bellen HJ. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 Apr 04; 111(4):742-760. PMID: 38479391.
      Citations:    Fields:    
    3. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 Feb 28; 101102. PMID: 38431799.
      Citations:    Fields:    
    4. Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ. Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proc Natl Acad Sci U S A. 2024 Feb 27; 121(9):e2322582121. PMID: 38381787; PMCID: PMC10907268.
      Citations:    Fields:    Translation:HumansAnimalsCells
    5. German RJ, Vuocolo B, Vossaert L, Owen N, Lewis RA, Saba L, Texome Project, Wangler MF, Nagamani S. Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss. Mol Genet Genomic Med. 2024 Feb; 12(2):e2404. PMID: 38404254; PMCID: PMC10895382.
      Citations: 1     Fields:    Translation:Humans
    6. Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ, Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09. PMID: 38260438; PMCID: PMC10802640.
      Citations:    
    7. Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, V?llo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M, Undiagnosed Disease Network, Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 2023 11 02; 110(11):1919-1937. PMID: 37827158; PMCID: PMC10645550.
      Citations:    Fields:    Translation:HumansAnimalsCells
    8. Ford CP, Littlejohn RO, German R, Vuocolo B, Aceves J, Vossaert L, Owen N, Wangler M, Schmid CA, Texome Project. Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population. Mol Genet Genomic Med. 2023 Dec; 11(12):e2272. PMID: 37614148; PMCID: PMC10724509.
      Citations: 1     Fields:    Translation:Humans
    9. Briere LC, Walker MA, Rodan LH, Undiagnosed Diseases Network, Sweetser DA, Jangam SV, Jay KL, Andrews JC, High FA, Yamamoto S, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 08 09; 224(4). PMID: 37314226; PMCID: PMC10411565.
      Citations: 2     Fields:    Translation:HumansAnimals
    10. Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, Miller MJ. Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders. Mol Genet Metab. 2023 11; 140(3):107680. PMID: 37567036; PMCID: PMC10840807.
      Citations:    Fields:    Translation:Humans
    11. Yamamoto S, Kanca O, Wangler MF, Bellen HJ. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60. PMID: 37491400.
      Citations: 4     Fields:    Translation:HumansAnimals
    12. 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. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 2023 08 29; 42(8):112842. PMID: 37480566; PMCID: PMC10962759.
      Citations:    Fields:    Translation:HumansAnimalsCells
    13. 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, G??wein S, Di Donato N, Bertini ES, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789. PMID: 37054711; PMCID: PMC10183469.
      Citations: 2     Fields:    Translation:HumansAnimals
    14. Undiagnosed Diseases Network, Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. 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 06; 25(6):100833. PMID: 37013900.
      Citations: 1     Fields:    Translation:HumansAnimals
    15. Undiagnosed Diseases Network, Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler M. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. medRxiv. 2023 Feb 03. PMID: 36778246; PMCID: PMC9915809.
      Citations:    
    16. 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. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. PMID: 36332614; PMCID: PMC9674957.
      Citations:    Fields:    
    17. Lyons-Warren AM, Wangler MF, Wan YW. Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder. Int J Mol Sci. 2022 Oct 27; 23(21). PMID: 36361815; PMCID: PMC9655407.
      Citations: 1     Fields:    Translation:Humans
    18. 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. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022 10 06; 109(10):1932-1943. PMID: 36206744; PMCID: PMC9606480.
      Citations: 4     Fields:    Translation:HumansAnimals
    19. 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. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022 08 25; 31(17):2934-2950. PMID: 35405010; PMCID: PMC9433733.
      Citations:    Fields:    
    20. Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 09; 188(9):2718-2723. PMID: 35796094; PMCID: PMC9378577.
      Citations:    Fields:    
    21. Grosso BJ, Kramer AA, Tyagi S, Bennett DF, Tifft CJ, D'Souza P, Wangler MF, Macnamara EF, Bannister RA, Meza U. Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder. Sci Rep. 2022 06 02; 12(1):9186. PMID: 35655070; PMCID: PMC9163077.
      Citations:    Fields:    Translation:Humans
    22. Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A. Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data. Sci Rep. 2022 04 21; 12(1):6556. PMID: 35449147; PMCID: PMC9023513.
      Citations:    Fields:    Translation:Humans
    23. 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. An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Ann Neurol. 2022 07; 92(1):138-153. PMID: 35340043.
      Citations:    Fields:    Translation:HumansCells
    24. 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. ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Hum Mutat. 2022 06; 43(6):743-759. PMID: 35224820; PMCID: PMC9133126.
      Citations: 3     Fields:    Translation:Humans
    25. 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 H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Sabatier I, Brownstein CA, Madden JA, Agrawal PB, Brugger M, Leiz S, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Pavinato L, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S, Fehr S, Lesca G, Chatron N, Keren B, Courtin T, Perrin L, Roser T, Mau-Them FT, Keller R, Brusco A. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517. PMID: 35294868; PMCID: PMC8983390.
      Citations: 2     Fields:    Translation:HumansAnimals
    26. Sharma S, Hourigan B, Patel Z, Rosenfeld JA, Chan KM, Wangler MF, Yi JS, Lehman A, CAUSES Study, Horvath G, Cloos PA, Tan Q. Novel CIC variants identified in individuals with neurodevelopmental phenotypes. Hum Mutat. 2022 07; 43(7):889-899. PMID: 35165976.
      Citations:    Fields:    Translation:Humans
    27. Manor J, Chung H, Bhagwat PK, Wangler MF. ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. J Neurosci Res. 2021 12; 99(12):3170-3181. PMID: 34716609; PMCID: PMC9665428.
      Citations: 1     Fields:    Translation:HumansAnimals
    28. 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. AHDC1 missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021 Oct 14; 2(4). PMID: 34950897; PMCID: PMC8694554.
      Citations: 1     
    29. 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, 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, Cogn? B, Isidor B. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691. PMID: 34314705; PMCID: PMC8456166.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    30. Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S, Keren B, Mignot C, Ravelli C. Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 2021 06 26; 30(14):1283-1292. PMID: 33864376; PMCID: PMC8255132.
      Citations: 4     Fields:    Translation:Humans
    31. 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, 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, Kl?ckner C. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900. PMID: 34113007; PMCID: PMC8487929.
      Citations: 4     Fields:    Translation:HumansAnimals
    32. 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. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 05 07; 16(1):206. PMID: 33962631; PMCID: PMC8103593.
      Citations: 10     Fields:    Translation:HumansAnimals
    33. 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. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 05; 42(5):577-591. PMID: 33644933; PMCID: PMC8115934.
      Citations: 2     Fields:    Translation:Humans
    34. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, High FA, Armstrong-Javors A, Kamel WA, Al-Hashel JY, 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, Joset P, Steindl K, Rauch A, Hackenberg A, Mencacci NE, Gonz?lez-Latapi P, Bustos BI. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833. PMID: 33443317.
      Citations: 3     Fields:    Translation:HumansCells
    35. Sze SK, Lederman HM, Crawford TO, Wangler MF, Lewis AM, Kastan MB, Dibra HK, Taylor AMR, Wechsler DS. Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. J Pediatr Hematol Oncol. 2021 01; 43(1):e138-e140. PMID: 31743320.
      Citations: 1     Fields:    Translation:Humans
    36. 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. 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. 2021 01; 9(1):e1542. PMID: 33350591; PMCID: PMC7963417.
      Citations: 1     Fields:    Translation:Humans
    37. 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, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, 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 M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ, Keren B, Nava C, Mignot C, Faoucher M, Lesca G, Edery P. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. PMID: 33232675; PMCID: PMC7820627.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    38. 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. Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 Jan 14; 2(1). PMID: 33665635; PMCID: PMC7928427.
      Citations: 6     
    39. 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. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579. PMID: 32356556; PMCID: PMC7268787.
      Citations: 11     Fields:    Translation:HumansCells
    40. Schulze KV, Hanchard NA, Wangler MF. Biases in arginine codon usage correlate with genetic disease risk. Genet Med. 2020 08; 22(8):1407-1412. PMID: 32371920.
      Citations: 1     Fields:    Translation:HumansCells
    41. 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. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725. PMID: 32330417; PMCID: PMC7212481.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    42. 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. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6. PMID: 32169171; PMCID: PMC7289150.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    43. Liu J, Ding G, Zou K, Jiang Z, Zhang J, Lu Y, Pignata A, Venner E, Liu P, Liu Z, Wangler MF, Sun Z. Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. Mol Genet Genomic Med. 2020 03; 8(3):e1130. PMID: 31971667; PMCID: PMC7057095.
      Citations: 3     Fields:    Translation:Humans
    44. Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF. A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. G3 (Bethesda). 2020 01 07; 10(1):69-77. PMID: 31767637; PMCID: PMC6945042.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    45. Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bosanko KB, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Hurst ACE, Jhangiani SN, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, 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, Bofferding L, Bouassida S, Heck S, Isidor B, Rocha ML. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654. PMID: 31769566; PMCID: PMC7720429.
      Citations: 9     Fields:    Translation:Humans
    46. Bellen HJ, Wangler MF, Yamamoto S. The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 2019 11 21; 28(R2):R207-R214. PMID: 31227826; PMCID: PMC6872428.
      Citations: 28     Fields:    Translation:HumansAnimals
    47. 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, Cunningham M, Delatycki MB, Dosa L, Esposito S, Freckmann ML, Fauth C, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, 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, Panzer K, Pappas JG, Pierpont ME, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, 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, Wimmer K, De Luca A, Legius E, Messiaen LM, Cort?s FM, D'Agostino MD, Digilio MC, Fox S, Giugliano T, Hern?ndez-Chico C, Ortenberg J, Piluso G, Santoro C, Martin Y. 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. 2020 01; 41(1):299-315. PMID: 31595648; PMCID: PMC6973139.
      Citations: 27     Fields:    Translation:Humans
    48. 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. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986. PMID: 31668702; PMCID: PMC6849092.
      Citations: 13     Fields:    Translation:Humans
    49. 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, 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, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE, Keren B, Afenjar A, B?ttner B, Hoffer MJV. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679. PMID: 31616000; PMCID: PMC6794285.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    50. Carrasco D, Magoulas P, Scull JC, Jarrell JA, Lalani SR, Wangler MF. Digital necrosis in an infant with severe spinal muscular atrophy. Neurol Genet. 2019 Oct; 5(5):e361. PMID: 31742229; PMCID: PMC6807655.
      Citations: 1     
    51. 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. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. PMID: 31491411; PMCID: PMC6732524.
      Citations: 4     Fields:    
    52. Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150). PMID: 31498321; PMCID: PMC7418855.
      Citations: 17     Fields:    Translation:HumansAnimals
    53. 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. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. PMID: 31327508; PMCID: PMC6699142.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    54. Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 30850373; PMCID: PMC6549558.
      Citations: 11     Fields:    Translation:HumansCells
    55. Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 30622101; PMCID: PMC6549549.
      Citations: 7     Fields:    Translation:Humans
    56. 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, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, 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, 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, Legius E, Messiaen LM, Digilio MC, Hern?ndez-Chico C, Perreault S, Martin Y. Correction: 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. 2019 03; 21(3):764-765. PMID: 30275510; PMCID: PMC7608433.
      Citations:    Fields:    
    57. 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, 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, Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. PMID: 30304647; PMCID: PMC6481166.
      Citations: 97     Fields:    Translation:HumansAnimals
    58. 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, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, 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, 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, Legius E, Messiaen LM, Digilio MC, Hern?ndez-Chico C, Perreault S, Martin Y. 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. 2019 04; 21(4):867-876. PMID: 30190611; PMCID: PMC6752285.
      Citations: 34     Fields:    Translation:Humans
    59. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, 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, Mart?nez-Agosto JA. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456. PMID: 30193138; PMCID: PMC6128320.
      Citations: 4     Fields:    
    60. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, 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, Mart?nez-Agosto JA. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260. PMID: 30057031; PMCID: PMC6081494.
      Citations: 25     Fields:    
    61. Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, 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, Powis Z. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465. PMID: 29726930; PMCID: PMC6030957.
      Citations: 25     Fields:    Translation:HumansAnimals
    62. 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. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May; 137(5):375-388. PMID: 29740699; PMCID: PMC5973976.
      Citations: 14     Fields:    Translation:HumansCells
    63. 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. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326. PMID: 29696776; PMCID: PMC6231716.
      Citations: 16     Fields:    Translation:Humans
    64. 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. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell. 2018 04 23; 45(2):226-244.e8. PMID: 29689197; PMCID: PMC5920516.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    65. Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ. The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28. PMID: 29529134.
      Citations: 3     Fields:    Translation:Humans
    66. Bellettato CM, Hubert L, Wangler MF, Scarpa M. Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases. Pediatr Clin North Am. 2018 04; 65(2):353-373. PMID: 29502918.
      Citations: 8     Fields:    Translation:HumansCells
    67. 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, Zappala Z, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, 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, Ol?hov? M, Contrepois K, Fr?sard L, Feichtinger RG. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504. PMID: 29478781; PMCID: PMC6117612.
      Citations: 33     Fields:    Translation:HumansCells
    68. 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. A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283. PMID: 29419819; PMCID: PMC7605708.
      Citations: 19     Fields:    Translation:Humans
    69. 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. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083; PMCID: PMC6359927.
      Citations: 130     Fields:    Translation:Humans
    70. Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27. PMID: 28874452; PMCID: PMC5586389.
      Citations: 84     Fields:    Translation:HumansAnimals
    71. 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, Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905. PMID: 28742085; PMCID: PMC5557584.
      Citations: 36     Fields:    Translation:HumansAnimals
    72. Wangler MF, Chao YH, Bayat V, Giagtzoglou N, Shinde AB, Putluri N, Coarfa C, Donti T, Graham BH, Faust JE, McNew JA, Moser A, Sardiello M, Baes M, Bellen HJ. Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. PLoS Genet. 2017 Jun; 13(6):e1006825. PMID: 28640802; PMCID: PMC5480855.
      Citations: 14     Fields:    Translation:AnimalsCells
    73. Halim D, Brosens E, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Burns AJ, Tibboel D, Hofstra RMW, Alves MM, Muller F, Oury JF, Rosenblatt J. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 06; 101(1):123-129. PMID: 28602422; PMCID: PMC5501771.
      Citations: 19     Fields:    Translation:HumansCells
    74. Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, UDN, Perrimon N, Liu Z, Bellen HJ. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017 Jun 01; 100(6):843-853. PMID: 28502612; PMCID: PMC5670038.
      Citations: 82     Fields:    Translation:Humans
    75. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, 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, Stray-Pedersen A, K?ry S, Mercier S. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26. PMID: 28327206; PMCID: PMC5361813.
      Citations: 90     Fields:    Translation:Humans
    76. Wangler MF, Hu Y, Shulman JM. Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits. Dis Model Mech. 2017 02 01; 10(2):77-88. PMID: 28151408; PMCID: PMC5312009.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    77. 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 MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. PMID: 28132692; PMCID: PMC5294886.
      Citations: 20     Fields:    Translation:HumansCells
    78. Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137. PMID: 28017372; PMCID: PMC5223093.
      Citations: 50     Fields:    Translation:HumansCells
    79. 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, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. PMID: 28017472; PMCID: PMC5242142.
      Citations: 55     Fields:    Translation:AnimalsCells
    80. Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Mol Genet Metab Rep. 2016 Dec; 9:75-78. PMID: 27872819; PMCID: PMC5109284.
      Citations: 10     
    81. Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Sep; 8:61-6. PMID: 27504266; PMCID: PMC4969260.
      Citations: 25     
    82. Chao YH, Robak LA, Xia F, Koenig MK, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MF. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56. PMID: 26931468; PMCID: PMC5007591.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    83. Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M, Braverman NE. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar; 117(3):313-21. PMID: 26750748; PMCID: PMC5214431.
      Citations: 74     Fields:    Translation:HumansCells
    84. Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MF. Dataset for a case report of a homozygous PEX16 F332del mutation. Data Brief. 2016 Mar; 6:722-7. PMID: 26870756; PMCID: PMC4737951.
      Citations: 1     
    85. Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MF. A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey. Mol Genet Metab Rep. 2015 Dec 01; 5:15-18. PMID: 26644994; PMCID: PMC4669579.
      Citations: 8     
    86. Wangler MF, Yamamoto S, Bellen HJ. Fruit flies in biomedical research. Genetics. 2015 Mar; 199(3):639-53. PMID: 25624315; PMCID: PMC4349060.
      Citations: 71     Fields:    Translation:HumansAnimals
    87. 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 LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214. PMID: 25259927; PMCID: PMC4298142.
      Citations: 168     Fields:    Translation:HumansAnimalsCells
    88. Faust JE, Manisundaram A, Ivanova PT, Milne SB, Summerville JB, Brown HA, Wangler M, Stern M, McNew JA. Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster. PLoS One. 2014; 9(6):e100213. PMID: 24945818; PMCID: PMC4063865.
      Citations: 17     Fields:    Translation:AnimalsCells
    89. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
      Citations: 29     Fields:    Translation:Humans
    90. 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. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258. PMID: 24676022; PMCID: PMC3967950.
      Citations: 50     Fields:    Translation:Humans
    91. Wangler MF, Chavan R, Hicks MJ, Nuchtern JG, Hegde M, Plon SE, Thompson PA. Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. J Pediatr Hematol Oncol. 2013 May; 35(4):323-8. PMID: 23426006; PMCID: PMC3708690.
      Citations: 5     Fields:    Translation:Humans
    92. Wangler MF, Reiter LT, Zimm G, Trimble-Morgan J, Wu J, Bier E. Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila. Protein Cell. 2011 Jul; 2(7):554-63. PMID: 21822800; PMCID: PMC3702159.
      Citations: 1     Fields:    Translation:AnimalsCells
    93. Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Adesina AM, Wong LJ, Scaglia F. Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 2011 Jun; 103(2):153-60. PMID: 21414825.
      Citations: 7     Fields:    Translation:Humans
    94. 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. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12; 87(5):708-12. PMID: 21035103; PMCID: PMC2978944.
      Citations: 28     Fields:    Translation:Humans
    95. Kistka ZA, Palomar L, Lee KA, Boslaugh SE, Wangler MF, Cole FS, DeBaun MR, Muglia LJ. Racial disparity in the frequency of recurrence of preterm birth. Am J Obstet Gynecol. 2007 Feb; 196(2):131.e1-6. PMID: 17306652.
      Citations: 68     Fields:    Translation:Humans
    96. Wangler MF, An P, Feinberg AP, Province M, Debaun MR. Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet A. 2005 Aug 15; 137(1):16-21. PMID: 16007611; PMCID: PMC3947567.
      Citations: 2     Fields:    Translation:Humans
    97. Wangler MF, Chang AS, Moley KH, Feinberg AP, Debaun MR. 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. 2005 Apr 15; 134A(2):187-91. PMID: 15723285.
      Citations: 13     Fields:    Translation:Humans
    98. Chang AS, Moley KH, Wangler M, Feinberg AP, Debaun MR. Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients. Fertil Steril. 2005 Feb; 83(2):349-54. PMID: 15705373; PMCID: PMC4872595.
      Citations: 45     Fields:    Translation:HumansCells
    WANGLER's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (346)
    Explore
    _
    Co-Authors (121)
    Explore
    _
    Similar People (60)
    Explore
    _
    Same Department Expand Description
    Explore
    _