| Year |
Citation |
Score |
| 2024 |
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, ... ... Wangler MF, et al. 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101125. PMID 38522068 DOI: 10.1016/j.gim.2024.101125 |
0.789 |
|
| 2024 |
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, ... ... Wangler MF, et al. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. American Journal of Human Genetics. PMID 38479391 DOI: 10.1016/j.ajhg.2024.02.007 |
0.86 |
|
| 2024 |
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, ... ... Wangler M, et al. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101102. PMID 38431799 DOI: 10.1016/j.gim.2024.101102 |
0.436 |
|
| 2024 |
Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E, 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. Proceedings of the National Academy of Sciences of the United States of America. 121: e2322582121. PMID 38381787 DOI: 10.1073/pnas.2322582121 |
0.807 |
|
| 2024 |
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, et al. variants in are associated with hearing impairment, ocular pathology, and cardiac defects. Medrxiv : the Preprint Server For Health Sciences. PMID 38260438 DOI: 10.1101/2024.01.08.23300523 |
0.827 |
|
| 2023 |
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, Vøllo A, Haynes D, ... ... Wangler MF, et al. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics. PMID 37827158 DOI: 10.1016/j.ajhg.2023.09.009 |
0.812 |
|
| 2023 |
Yamamoto S, Kanca O, Wangler MF, Bellen HJ. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nature Reviews. Genetics. PMID 37491400 DOI: 10.1038/s41576-023-00633-6 |
0.786 |
|
| 2023 |
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, ... ... Wangler MF, et al. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Reports. 42: 112842. PMID 37480566 DOI: 10.1016/j.celrep.2023.112842 |
0.796 |
|
| 2023 |
Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. PMID 37314226 DOI: 10.1093/genetics/iyad110 |
0.565 |
|
| 2023 |
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, ... ... Wangler MF, et al. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics. PMID 37054711 DOI: 10.1016/j.ajhg.2023.03.012 |
0.768 |
|
| 2023 |
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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100833. PMID 37013900 DOI: 10.1016/j.gim.2023.100833 |
0.771 |
|
| 2023 |
Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler M. A missense variant in associated with developmental delay exhibits functional deficits in . Medrxiv : the Preprint Server For Health Sciences. PMID 36778246 DOI: 10.1101/2023.01.31.23285113 |
0.821 |
|
| 2022 |
Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, et al. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics. 109: 2092. PMID 36332614 DOI: 10.1016/j.ajhg.2022.10.001 |
0.773 |
|
| 2022 |
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, ... ... Wangler MF, et al. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. American Journal of Human Genetics. 109: 1932-1943. PMID 36206744 DOI: 10.1016/j.ajhg.2022.09.005 |
0.804 |
|
| 2022 |
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. American Journal of Medical Genetics. Part A. PMID 35796094 DOI: 10.1002/ajmg.a.62889 |
0.381 |
|
| 2022 |
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, ... ... Wangler MF, et al. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics. PMID 35405010 DOI: 10.1093/hmg/ddac085 |
0.64 |
|
| 2022 |
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. Annals of Neurology. PMID 35340043 DOI: 10.1002/ana.26359 |
0.586 |
|
| 2022 |
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, ... ... Wangler MF, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38: 110517. PMID 35294868 DOI: 10.1016/j.celrep.2022.110517 |
0.78 |
|
| 2022 |
Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY, Network UD, 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. Human Mutation. PMID 35224820 DOI: 10.1002/humu.24364 |
0.593 |
|
| 2022 |
Sharma S, Hourigan B, Patel Z, Rosenfeld JA, Chan KM, Wangler MF, Yi JS, Lehman A, Horvath G, Cloos PA, Tan Q. Novel CIC variants identified in individuals with neurodevelopmental phenotypes. Human Mutation. PMID 35165976 DOI: 10.1002/humu.24346 |
0.402 |
|
| 2021 |
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, ... ... Wangler MF, et al. missense mutations in Xia-Gibbs syndrome. Hgg Advances. 2. PMID 34950897 DOI: 10.1016/j.xhgg.2021.100049 |
0.355 |
|
| 2021 |
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. Journal of Neuroscience Research. PMID 34716609 DOI: 10.1002/jnr.24953 |
0.753 |
|
| 2021 |
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, ... ... Wangler MF, et al. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics. PMID 34314705 DOI: 10.1016/j.ajhg.2021.06.019 |
0.772 |
|
| 2021 |
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, ... ... Wangler MF, et al. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34113007 DOI: 10.1038/s41436-021-01216-8 |
0.831 |
|
| 2021 |
Baldridge D, Wangler MF, Bowman AN, Yamamoto S, 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 Journal of Rare Diseases. 16: 206. PMID 33962631 DOI: 10.1186/s13023-021-01839-9 |
0.62 |
|
| 2021 |
Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien J, Stong N, Keren B, Mignot C, Ravelli C, Bellen HJ, Wangler MF, Shashi V, et al. Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features. Human Molecular Genetics. PMID 33864376 DOI: 10.1093/hmg/ddab110 |
0.674 |
|
| 2021 |
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, ... ... Wangler MF, et al. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. Hgg Advances. 2. PMID 33665635 DOI: 10.1016/j.xhgg.2020.100014 |
0.355 |
|
| 2021 |
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, ... ... Wangler M, et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs Syndrome. Human Mutation. PMID 33644933 DOI: 10.1002/humu.24190 |
0.347 |
|
| 2021 |
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, ... ... Wangler MF, et al. MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of Neurology. PMID 33443317 DOI: 10.1002/ana.26019 |
0.347 |
|
| 2020 |
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, ... ... Wangler MF, et al. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Molecular Genetics & Genomic Medicine. e1542. PMID 33350591 DOI: 10.1002/mgg3.1542 |
0.751 |
|
| 2020 |
Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, ... ... Wangler M, et al. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American Journal of Human Genetics. PMID 33232675 DOI: 10.1016/j.ajhg.2020.11.003 |
0.831 |
|
| 2020 |
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, et al. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. PMID 32356556 DOI: 10.1093/Hmg/Ddaa081 |
0.814 |
|
| 2020 |
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, et al. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. American Journal of Human Genetics. PMID 32330417 DOI: 10.1016/J.Ajhg.2020.04.001 |
0.835 |
|
| 2020 |
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, et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. PMID 32169171 DOI: 10.1016/J.Neuron.2020.02.021 |
0.773 |
|
| 2019 |
Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF. A Genetic Screen for Genes That Impact Peroxisomes in Identifies Candidate Genes for Human Disease. G3 (Bethesda, Md.). PMID 31767637 DOI: 10.1534/G3.119.400803 |
0.687 |
|
| 2019 |
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, Davis EE, ... ... Wangler MF, et al. A Genocentric Approach to Discovery of Mendelian Disorders. American Journal of Human Genetics. PMID 31668702 DOI: 10.1016/J.Ajhg.2019.09.027 |
0.37 |
|
| 2019 |
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, ... ... Wangler MF, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8 |
0.819 |
|
| 2019 |
Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. Journal of Visualized Experiments : Jove. PMID 31498321 DOI: 10.3791/59658 |
0.693 |
|
| 2019 |
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, ... ... Wangler MF, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674. PMID 31491411 DOI: 10.1016/J.Ajhg.2019.07.017 |
0.788 |
|
| 2019 |
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, ... ... Wangler MF, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014 |
0.842 |
|
| 2019 |
Bellen HJ, Wangler MF, Yamamoto S. The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Human Molecular Genetics. PMID 31227826 DOI: 10.1093/Hmg/Ddz135 |
0.643 |
|
| 2018 |
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, ... ... Wangler MF, et al. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. The New England Journal of Medicine. PMID 30304647 DOI: 10.1056/Nejmoa1714458 |
0.546 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, ... ... Wangler MF, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. 103: 456. PMID 30193138 DOI: 10.1016/j.ajhg.2018.08.010 |
0.791 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, ... ... Wangler MF, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. PMID 30057031 DOI: 10.1016/J.Ajhg.2018.07.006 |
0.833 |
|
| 2018 |
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, McLaughlin H, ... ... Wangler MF, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics. PMID 29740699 DOI: 10.1007/S00439-018-1887-Y |
0.365 |
|
| 2018 |
Liu N, Schoch K, Luo X, Pena L, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak K, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, ... ... Wangler MF, et al. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Human Molecular Genetics. PMID 29726930 DOI: 10.1093/Hmg/Ddy146 |
0.67 |
|
| 2018 |
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. American Journal of Medical Genetics. Part A. PMID 29696776 DOI: 10.1002/Ajmg.A.38699 |
0.333 |
|
| 2018 |
Tan KL, Haelterman NA, Kwartler CS, Regalado ES, Lee PT, Nagarkar-Jaiswal S, Guo DC, Duraine L, Wangler MF, Bamshad MJ, Nickerson DA, Lin G, Milewicz DM, Bellen HJ. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Developmental Cell. 45: 226-244.e8. PMID 29689197 DOI: 10.1016/J.Devcel.2018.03.020 |
0.8 |
|
| 2018 |
Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ. The expanding neurological phenotype of DNM1L-related disorders. Brain : a Journal of Neurology. PMID 29529134 DOI: 10.1093/brain/awy024 |
0.474 |
|
| 2018 |
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, ... ... Wangler MF, et al. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. American Journal of Human Genetics. PMID 29478781 DOI: 10.1016/J.Ajhg.2018.01.020 |
0.589 |
|
| 2017 |
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 207: 9-27. PMID 28874452 DOI: 10.1534/Genetics.117.203067 |
0.69 |
|
| 2017 |
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga K, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, ... ... Wangler MF, et al. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Plos Genetics. 13: e1006905. PMID 28742085 DOI: 10.1371/Journal.Pgen.1006905 |
0.684 |
|
| 2017 |
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 Genetics. 13: e1006825. PMID 28640802 DOI: 10.1371/Journal.Pgen.1006825 |
0.801 |
|
| 2017 |
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, et al. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. American Journal of Human Genetics. PMID 28602422 DOI: 10.1016/j.ajhg.2017.05.011 |
0.389 |
|
| 2017 |
Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Perrimon N, Liu Z, Bellen HJ. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. American Journal of Human Genetics. PMID 28502612 DOI: 10.1016/J.Ajhg.2017.04.010 |
0.77 |
|
| 2017 |
Wangler MF, Hu Y, Shulman JM. Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits. Disease Models & Mechanisms. 10: 77-88. PMID 28151408 DOI: 10.1242/Dmm.027680 |
0.351 |
|
| 2017 |
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, ... ... Wangler MF, et al. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. American Journal of Human Genetics. PMID 28132692 DOI: 10.1016/J.Ajhg.2016.12.013 |
0.442 |
|
| 2016 |
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, ... ... Wangler MF, et al. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. PMID 28017472 DOI: 10.1016/J.Neuron.2016.11.038 |
0.78 |
|
| 2016 |
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, ... ... Wangler MF, et al. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. American Journal of Human Genetics. PMID 28017372 DOI: 10.1016/J.Ajhg.2016.11.018 |
0.755 |
|
| 2016 |
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. Human Molecular Genetics. PMID 26931468 DOI: 10.1093/Hmg/Ddw059 |
0.559 |
|
| 2016 |
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 in Brief. 6: 722-7. PMID 26870756 DOI: 10.1016/j.dib.2015.12.011 |
0.569 |
|
| 2015 |
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. Molecular Genetics and Metabolism Reports. 5: 15-18. PMID 26644994 DOI: 10.1016/j.ymgmr.2015.09.001 |
0.549 |
|
| 2015 |
Wangler M, Bayat V, Bellen H. A Mitochondrial Translation Defect Identified by Whole-Exome Sequencing Expands the Phenotypic Spectrum for MARS2. Human Mutation. 36: iii. PMID 25989390 DOI: 10.1002/Humu.22811 |
0.776 |
|
| 2015 |
Wangler MF, Yamamoto S, Bellen HJ. Fruit flies in biomedical research. Genetics. 199: 639-53. PMID 25624315 DOI: 10.1534/Genetics.114.171785 |
0.551 |
|
| 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, ... ... Wangler MF, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14. PMID 25259927 DOI: 10.1016/J.Cell.2014.09.002 |
0.783 |
|
| 2014 |
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. 9: e100213. PMID 24945818 DOI: 10.1371/Journal.Pone.0100213 |
0.375 |
|
| 2014 |
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, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. American Journal of Human Genetics. 94: 784-9. PMID 24791903 DOI: 10.1016/J.Ajhg.2014.04.006 |
0.342 |
|
| 2014 |
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, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258. PMID 24676022 DOI: 10.1371/Journal.Pgen.1004258 |
0.311 |
|
| 2011 |
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. 2: 554-63. PMID 21822800 DOI: 10.1007/S13238-011-1073-7 |
0.317 |
|
| 2005 |
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. Fertility and Sterility. 83: 349-54. PMID 15705373 DOI: 10.1016/J.Fertnstert.2004.07.964 |
0.342 |
|
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