Michael Francis Wangler, M.D.
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Positions
- Associate Professor
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Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Faculty Member
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Graduate Programs in Development, Disease Models & Therapeutics and Genetics & Genomics
Baylor College of Medicine
Addresses
- Texas Children's Genetics Clinic (Clinic)
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Texas Children's Clinical Care Center
6701 Fannin St., 16th Floor
Houston, TX 77030
United States
Phone: (832) 822-4280
Texas Children's Genetics Clinic
- Duncan Neurological Research Institute (Lab)
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Room: DNRI-1050
Houston, TX 77030
United States
Phone: (832) 822-1240
michael.wangler@bcm.edu
Education
- MD from Baylor College Of Medicine
- Houston, TX United States
- Internship at Baylor College Of Medicine Affiliate Hospitals
- Houston, TX United States
- Pediatrics
- Residency at Baylor College Of Medicine Affiliate Hospitals
- Houston, TX
- Pediatrics
- Residency at Baylor College Of Medicine Affiliate Hospitals
- Houston, TX
- Clinical Genetics
Professional Interests
- Pediatric genetics
- Peroxisomal disorders
Professional Statement
Molecular and Developmental Mechanisms of Mendelian DisordersOur lab studies rare human disease phenotypes in order to gain insight into general principles of human health. Methods include clinical studies in rare disease, genomics and model organism genetics particularly Drosophila melanogaster. We are currently using Drosophila to study Mendelian disorders and their underlying genetic and developmental mechanisms in two major efforts:
1) Model Organisms and the Molecular Pathogenesis of Mendelian Disorders: We use Drosophila models for diagnostic paradigms. We are part of the Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN). We have also started a similar effort in underserved populations called Community TEXOME.
2) Mendelian Disorders of the Peroxisome and Organelle Dynamics: Peroxisomes are fundamental sub-cellular organelles present in all eukaryotic cells. We use clinical and Drosophila studies in the elucidation of mechanisms of Peroxisomal Biogenesis Disorders- Zellweger Spectrum disorders (PBD-ZSD). These diseases are expanding from autosomal recessive disorders to a broad range of human diseases related to peroxisomes.
Websites
Selected Publications
- Jangam S, Briere L, Jay K, Andrews J, Walker M, High F, Yamamoto S, Sweetser D, Wangler MF* "A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster." Submitted. Available on MedRxiv. 2023;
- 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*. "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) Pubmed PMID: 37013900
- 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.. 2023;23(21):13030. Pubmed 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 "The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability." Am J Hum Genet.. 2022;109(11):2092. Pubmed 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 "De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement." Am J Hum Genet.. 2022;109(10):1932-1943. Pubmed PMID: 36206744
- 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;188(9):2718-2723. Pubmed PMID: 35796094
- Grosso BJ, Kramer AA, Tyagi S, Bennett DF, Tifft CJ, D'Souza P, Wangler MF, Macnamara EF, Meza U, Bannister RA "Complex effects on Cav2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder." Sci Rep.. 2022;12(1):9186. Pubmed PMID: 35655070
- Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, (...), 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;31(17):2934-2950. Pubmed PMID: 35405010
- Marcogliese PC, Deal SL, Andrews J, Harnish JM, (…) Wangler MF*, Yamamoto S* "Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.." Cell Rep. 2022;38:110517. Pubmed PMID: 35294868
- Schulze KV, Hanchard NA, Wangler MF* "Biases in arginine codon usage correlate with genetic disease risk.." Genet Med.. 2020;22(8):1407-1412. Pubmed PMID: 32371920
- Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, (…) Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF* "Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.." Hum Mutat.. 2020;41:641-654. Pubmed PMID: 31769566
- 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;10(1):69-77. Pubmed PMID: 31767637
- Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, (…) 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;5(3):a003673. Pubmed PMID: 30850373
- Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, (…) 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;379:2131-2139. Pubmed PMID: 35913761
- Wangler MF*, Hubert L, Donti TR, Ventura MJ, Miller MJ, (…) Elsea SH "A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.." Genet Med.. 2018;20(10):1274-1283. Pubmed PMID: 29419819
- Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, (…) Bellen HJ "Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.." Genetics. 2017;207(1):9-27. Pubmed PMID: 28874452
- Luo X, Rosenfeld JA, Yamamoto S, Harel T, Pastore M, (...), Members of the UDN, Lotze T, Lupski JR, Lalani S, Yang Y, Lee B, Bellen HJ, Wangler MF "Missense de novo variants in the CACNA1A associated with severe early onset ataxias can be gain or loss of function in Drosophila.." PLoS Genet.. 2017;13:e1006905.
- Wangler MF*, Chao YH, Bayat V, Giagtzoglu N, Putluri, N, (...), Bellen HJ "Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse." PLoS Genet. 2017;13(6):e1006825.
- Yoon WH, Sandoval H, Nagarkar Jaiswal S, Jaiswal M, Yamamoto S, (...), Wangler MF, Karaca E, Lupski JR, Bellen HJ "Nardilysin chaperones mitochondrial Oxoglutarate dehydrogenase and protects against the demise of neurons in flies and human." Neuron. 2017;93:115-131.
- Chao H-T, Davids M, Burke E, Pappas JG, Rosenfeld JA, (...), Wangler MF* Malicdan MC* "A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3." Am J Hum Genet.. 2017;100:128-137. Pubmed PMID: 28017372
- Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, (...), Wangler MF "Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.." Mol Genet Metab Rep.. 2016;9:75-78. Pubmed PMID: 27872819
- Chao Y-H, Robak L, Xia F, Koenig M, 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;25(9):1846-56. Pubmed PMID: 26931468
- 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." Mol Genet Metab.. 2015;117(3):313-21. Pubmed PMID: 26750748
- Bacino C, Chao Y-H, Seto E, Lotze T, Xia F, Moser A, Wangler MF "A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey." Mol Genet Metab Rep. 2015;5:15-18. Pubmed PMID: 26644994
- Wangler MF, Beaudet AL "ACTG2-Related Disorders." GeneReviews [Internet]. 2015;
- Wangler, MF, Yamamoto S, Bellen, H "Fruit flies in Biomedical Research." Genetics. 2015;199(3):639-53. Pubmed PMID: 25624315
- Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, (...), Gibbs RA, Chen R, Lupski JR, Wangler MF*, Bellen HJ* "A Drosophila genetic resource to study human disease genes and its use for gene discovery in human exome data." Cell. 2014;159(1):200-14. Pubmed PMID: 25259927
- Faust, JE, Manisundaram A, Ivanova PT, Milne SB, Summerville JB, Brown HA, Wangler MF, Stern M, McNew JA "Peroxisomes are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster." PLOS One. 2014;9(6):e100213. Pubmed PMID: 24945818
- Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, (...), 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;10(3):e1004258. Pubmed PMID: 24676022
- 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. Pubmed PMID: 23426006
- 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;12(1):6556. Pubmed 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 "An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain." Ann Neurol.. 2022;92(1):138-153. Pubmed PMID: 35340043
- 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 undiagnoed disease research." Hum Mutat.. 2022;43(6):743-759. Pubmed 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 "Novel CIC variants identified in individuals with neurodevelopmental phenotypes." Hum Mutat.. 2022;43(7):889-899. Pubmed PMID: 35165976
- 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;99(12):3170-3181. Pubmed 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 "AHDC1 missense mutations in Xia-Gibbs syndrome." HGG Adv.. 2021;2(4):100049. Pubmed 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, (...) , Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ "Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.." Genetic Med.. 2021;23(10):1889-1990. Pubmed 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, (...), Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Bellen HJ, Tan QK "TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila." Am J Hum Genet.. 2021;108(9):1669-1691. Pubmed 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 "Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features." Hum Mol Genet.. 2021;30(14):1283-1292. Pubmed PMID: 33864376
- 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, (...) , Hunter JV, Wangler MF, Carroll CJ, Yang Y "MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia." Ann Neurol.. 2021;89(4):828-833. Pubmed PMID: 33443317
- 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;43(1):e138-e140. Pubmed PMID: 31743320
- Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, (...), Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler MF, Yamamoto S, Kadoch C, Scott DA, Bellen HJ "BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms." Am J Hum Genet.. 2020;107(6):1096-1112. Pubmed PMID: 33232675
- 2. Martinez-Moreno R, Selga E, Riuró H, Carreras D, Parnes M, Srinivasan C, Wangler MF, Pérez GJ, Scornik FS, Brugada R "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.. 2020;8 Pubmed PMID: 33134290
- 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;29(9):1568-1579. Pubmed 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 "De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy." Am J Hum Genet.. 2020;106(5):717-725. Pubmed PMID: 32330417
- Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, (...) , 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;106(4):589-606. Pubmed 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* "Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia." Mol Genet Genomic Med.. 2020;8(3):e1130. Pubmed 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, (...) , Posey JE, Lupski JR, Beaudet AL, Wangler MF* "Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy." Hum Mutat.. 2020;41(3):641-654. Pubmed PMID: 31769566
- Carrasco D, Magoulas P, Scull JC, Jarrell JA, Lalani SR, Wangler MF* (2019). Digital necrosis in an infant with severe spinal muscular atrophy "Digital necrosis in an infant with severe spinal muscular atrophy." Neurol Genet.. 2019;5(5):e361. Pubmed PMID: 31742229
- Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, (...) , 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." Hum Genet.. 2019;105(5):974-986. Pubmed PMID: 31668702
- Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, (...) , Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE "Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders." Nat. Commun.. 2019;10(1):4679. Pubmed PMID: 31616000
- Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, (...) , 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 "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.. 2019;41(1):299-315. Pubmed PMID: 31595648
- 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; Pubmed PMID: 31498321
- Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, (...), 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;105(2):413-424. Pubmed PMID: 31327508
- 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;28(R2):R207-R214. Pubmed PMID: 30850373
- Murdock DR, Jiang Y, Wangler MF, 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;5(3):a003608. Pubmed PMID: 30622101
- Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, (...), Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA "Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease." N Engl J Med.. 2018;379(22):2131-2139. Pubmed PMID: 30304647
- Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, (...) , Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM "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.. 2018;21(4):867-876. Pubmed PMID: 30190611
- Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, (...) , Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM "IRF2BPL Is Associated with Neurological Phenotypes." Am J Hum Genet.. 2018;21(4):867-876. Pubmed PMID: 30057031
- Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, (...), 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;137(5):375-388. Pubmed PMID: 29740699
- Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, (...) , 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 "Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder." Hum Mol Genet..;27(14):2454-2465. Pubmed PMID: 29726930
- 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;176(6):1315-1326. Pubmed 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 "Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms." Dev Cell.. 2018;45(2):226-244. Pubmed PMID: 29689197
- 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;141(4):e28. Pubmed PMID: 29529134
- Bellettato CM, Hubert L, Scarpa M, Wangler MF* "Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases." Pediatr Clin North Am.. 2018;65(2):353-373. Pubmed PMID: 29502918
- Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, (...), 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 "Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder." Am J Hum Genet.. 2018;102(3):494-504. Pubmed PMID: 29478781
- Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, (...), Wangler MF, Scott D, Brown C, (...) , 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; Pubmed PMID: 28973083
- Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, (...), Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF* "Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially." PLoS Genet.. 2017;13(7):e1006905. Pubmed 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 "Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome." Am J Hum Genet.. 2017;101(1):123-129. Pubmed PMID: 28602422
- 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 "MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome." Am J Hum Genet.. 2017;100(6):843-853. Pubmed PMID: 28502612
- Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, (...) , Wangler MF, Bacino CA, Lewis RA, Potocki L, (...), Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR "Lessons learned from additional research analyses of unsolved clinical exome cases." Genome Med.. 2017;9(1):26. Pubmed PMID: 28327206
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