Publications

2017

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” American Journal of Human Genetics May 3. pii: S0002-9297(17)30154-4. doi: 10.1016/j.ajhg.2017.04.010. PMID 28502612
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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.  Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6. PMID:28327206
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Wangler MF, Hu Y, Shulman J. “Drosophila and Genome-wide Association Studies: A Review and Resource for the Functional Dissection of Human Complex Traits.” Disease Models and Mechanisms
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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 NACC1Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts and Profound Developmental Delay” AJHG #Corresponding Authors
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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), “Nardilysin chaperones mitochondrial Oxoglutarate dehydrogenase and protects against the demise of neurons in flies and human.” Neuron
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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.” American Journal of Human Genetics Corresponding Authors
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2015 - 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” Molecular Genetics and Metabolism Reports Nov 11;9:75-78  PMID: 27872819 PMCID: PMC5109284
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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.” Molecular Genetics and Metabolism 2016 Jul 27.
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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”.  Human Molecular Genetics May 1;25(9):1846-56 PMID 26931468 PMCID: PMC5007591
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Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Hacia JG, Bose M. “Peroxisome Biogenesis Disorders in the Zellweger Spectrum: an overview of current diagnosis, clinical manifestations and treatment guidelines.” Molecular Genetics and Metabolism 2015 Dec 23. pii: S1096-7192(15)30093-7.
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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 oddyssey” Molecular Genetics and Metabolism Reports, 2015 Dec 1;5:15-18. PMID:26644994.
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Wangler MF, Beaudet AL. ACTG2-Related Disorders. (2015) Jun 11. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. PMID:26072522.

Available from: http://www.ncbi.nlm.nih.gov/books/NBK299311/

Wangler, MF, Yamamoto S, Bellen, H. (2015) Fruitflies in Biomedical Research Genetics, Jan 26. pii: genetics. 114.171785. PMID:25624315; PMCID: PMC4349060 (Faculty of 1000).   
Pubmed    PDF    Faculty of 1000


2013 - 2014

 

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 to study human disease genes and its use for gene discovery in human exome data” Cell, Sep 25;159(1):200-14. doi: 10.1016/j.cell.2014.09.002. PMID: 25259927; PMCID:PMC4298142 #Corresponding Authors. (Faculty of 1000).   
Pubmed    PDF    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 Jun 19;9(6):e100213. PMID:24945818; PMCID:PMC4063865.
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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 the AHDC1 gene in patients with syndromic speech disability and sleep apnea” American Journal of Human Genetics May 1;94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
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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 ACTG2 underly Megacystis-microcolon intestinal hypoperistalsis syndrome.” PLOS Genetics Mar 27;10(3):e1004258 PMID:24676022; PMCID:PMC3967950.
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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 Pediatri Hematol Oncol. May; 35(4): 323-8. PMID:23426006; PMCID:PMC3708690.
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2012 and Prior

Wangler MF, Reiter LT, Zimm G, Trimble-Morgan J, Wu J, Bier E. (2011) “The antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila.” Protein & Cell Jul; 2(7): 554-63. PMID:21822800; PMCID:PMC3702159.

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Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Wong LJ, Scagllia F. (2011) “Atypical presentation of Leigh-like encephalopathy associated with a Leber Herediatry Optic Neuropathy primary mitochondrial DNA mutation” Molecular Genetics and Metabolism Jun;103(2):153-60. PMID:21414825.
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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): 708-712. PMCID: PMC2978944.
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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. Human Heredity 68(3)209-219. PMCID: PMC2869074.
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Kistka ZA, Palomar L, Lee KA, Boslaugh S, Wangler MF, Cole FS, DeBaun MR, Muglia LJ. (2007) Racial Disparity in Recurrence of Preterm Birth. Am J Ob Gynecol. 196(2): 131.e1-6. PMID:17306652.
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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. 2005 83(2): 349-54. PMID:15705373.
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Wangler MF, An P, Feinberg AP, Province M, DeBaun MR. (2005) The Inheritance Pattern of Beckwith Wiedemann syndrome is Heterogeneous in 291 Families with an affected Proband. Am J Med Genet A.137(1): 16-21. PMID:16007611 PMCID:PMC3947567.
Pubmed

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.134(2): 187-91. PMID:15723285.
Pubmed