| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 203 | 2019 |
| De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020 | 67 | 2020 |
| Genetic testing for the epilepsies: a systematic review BR Sheidley, J Malinowski, AL Bergner, L Bier, DS Gloss, W Mu, ... Epilepsia 63 (2), 375-387, 2022 | 62 | 2022 |
| Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts M Werth, KM Schmidt-Ott, T Leete, A Qiu, C Hinze, M Viltard, N Paragas, ... Elife 6, e24265, 2017 | 61 | 2017 |
| Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy L Fleming, M Lemmon, N Beck, M Johnson, W Mu, D Murdock, J Bodurtha, ... American Journal of Medical Genetics Part A 170 (1), 77-86, 2016 | 55 | 2016 |
| Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders W Mu, M Muriello, JL Clemens, Y Wang, CH Smith, PT Tran, PC Rowe, ... American journal of medical genetics Part A 179 (4), 561-569, 2019 | 54 | 2019 |
| De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease L Ma, Y Bayram, HM McLaughlin, MT Cho, A Krokosky, CE Turner, ... Human genetics 135, 1399-1409, 2016 | 35 | 2016 |
| Genetic testing to inform epilepsy treatment management from an international study of clinical practice D McKnight, A Morales, KE Hatchell, SL Bristow, JL Bonkowsky, MS Perry, ... JAMA neurology 79 (12), 1267-1276, 2022 | 34 | 2022 |
| Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation DB Beck, MA Basar, AJ Asmar, JJ Thompson, H Oda, DT Uehara, K Saida, ... Science advances 7 (4), eabe2116, 2021 | 26 | 2021 |
| Bi-allelic variants in the GPI transamidase subunit PIGK cause a neurodevelopmental syndrome with hypotonia, cerebellar atrophy, and epilepsy TTM Nguyen, Y Murakami, S Mobilio, M Niceta, G Zampino, C Philippe, ... The American Journal of Human Genetics 106 (4), 484-495, 2020 | 25 | 2020 |
| Expansion of the clinical spectrum associated with AARS2‐related disorders S Srivastava, A Butala, S Mahida, J Richter, W Mu, A Poretti, H Vernon, ... American Journal of Medical Genetics Part A 179 (8), 1556-1564, 2019 | 22 | 2019 |
| Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes M Muriello, JL Clemens, W Mu, PT Tran, PC Rowe, CH Smith, ... American journal of medical genetics Part A 176 (9), 1858-1864, 2018 | 15 | 2018 |
| The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population W Mu, N Schiess, JL Orthmann-Murphy, AW El-Hattab Journal of Neurogenetics 33 (1), 21-26, 2019 | 14 | 2019 |
| Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia W Mu, ZA Cordner, KY Wang, K Reed, G Robinson, S Mitchell, D Lin Genetics in Medicine 20 (6), 639-644, 2018 | 14 | 2018 |
| A structured genetics rotation for pediatric residents: an important educational opportunity RL Forsyth, W Mu, L Gibson, JR Serwint, N Shilkofski, J Bodurtha Genetics in Medicine 22 (4), 793-796, 2020 | 13 | 2020 |
| Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine ZA Lu, W Mu, LM Osborne, ZA Cordner Case Reports 2018, bcr-2018-225119, 2018 | 13 | 2018 |
| An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis A Diehl, W Mu, D Batista, M Gunay‐Aygun American Journal of Medical Genetics Part A 167 (7), 1644-1649, 2015 | 13 | 2015 |
| Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11. 2 encompassing SLC20A2 and THAP1 W Mu, L Tochen, C Bertsch, HS Singer, KW Barañano BMJ Case Reports CP 12 (5), e228782, 2019 | 9 | 2019 |
| Incontinentia pigmenti with persistent hypercalcemia: case report J Adashek, W Mu, J Francis, B Cohen, C Pruette, A Grossberg, J Bodurtha Pediatric Dermatology 33 (5), e315-e317, 2016 | 7 | 2016 |
| Undiagnosed Diseases Network MJ Guillen Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, ... Walker MA, Wang W., Weiss K., Weksberg R., Wheeler PG, Yoon G., Kingston RE …, 2020 | 6 | 2020 |
Clair FrancomanoIndiana University School of MedicineVerified email at iu.edu
