Alisha Wilkens, MS, CGC

Papers

2022

Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn. 2022 Jan 19:S1525-1578(22)00004-6. doi: 10.1016/j.jmoldx.2021.12.002. Epub ahead of print. PMID: 35065284.

2021

Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. ANKRD11 variants: KBG syndrome and beyond. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. PMID: 33955014.

2020

Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff M, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible S, Wilkens A, Spinner N, Skraban C, Krantz I. A Centralized Approach for Practicing Genomic Medicine. Pediatrics. 2020 Mar;145(3):e20190855. doi: 10.1542/peds.2019-0855. Epub 2020 Feb 26. PMID: 32102930.

2019

Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. J Mol Diagn. 2019 Jan;21(1):38-48. doi: 10.1016/j.jmoldx.2018.07.008.

2018

Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. PMID: 29907799

Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, Krantz ID, Conlin LK, Luo M. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genet Med. 2018 Dec;20(12):1600-1608. doi: 10.1038/gim.2018.48. Epub 2018 Mar 29. PMID: 29595809

2017

Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 Mar;20(3):329-336. doi: 10.1038/gim.2017.153. Epub 2017 Oct 12. Erratum in: Genet Med. 2018 Feb 08;:. Genet Med. 2018 Oct;20(10):1298.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002.

Schwartz E, Wilkens A, Noon SE, Krantz ID, Wu Y; A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. Am J Med Genet A. 2017 Mar; 172(3):809-812.

2016

Ahrens-Nicklas R, Umanah G, Sondheimer N, Deardorff MA, Wilkens A, Conlin L, Santani A, Nesbitt A, Juusola J, Ma E, Dawson TM, Dawson V, Marsh ED; Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurology Genetics – Manuscript Accepted Dec 13, 2016.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID; Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 May 12. Doi: 10.1038/gim.2016.17

Mehta D, Noon S, Schwartz E, Wilkens A, Bedoukian EC, Scarano I, Crenshaw EB, Krantz ID; Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic. Am J Med Genet A. 2016 Oct: 170(10):2523-30.

Ramos M, Wilkens A, Krantz ID, Wu, Y; Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion. Am J Med Genet C Semin Med Genet. 2016 Apr 29. doi: 10.1002/ajmg.c.31496

Izumi K, Kellogg E, Fujiki K, Kaur M, Tilton, RK, Noon S, Wilkens A, Shirahige K, Krantz ID; Elevation of insulin-like growth factor binding protein-2 level in Pallister Killian Syndrome: Implications for the postnatal growth retardation phenotype. Am J Med Genet A. 2015 Jun; 167(6):1268-74

2015

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL; Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/death. Hum Genomics. 2015 Jul 19;9-15

Ji J, Hane L, Argiropoulos B, Naghmeh D, Mann J, Martinez-Agosto J, Gomes-Ospina N, Gallant N, Bernstein J, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Oberszlyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan J, Vilain E, Hendricks E, Horton-Harr, M, Noon S, Jackson J, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai E, Krantz, I, Innes A M, Nelson S, Grody, Quintero-Rivera, F; DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Oct 23(11):1473-1481

2014

Kaur M, Izumi K, Wilkens A, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID; Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. PLoS One. 2014 Oct 15;9(10) (Epub)

Izumi K, Noon S, Wilkens A, Krantz ID; NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy. Eur J Med Genet. 2014 Oct; 57(10:558-61

Masino, A, Dechene E, Dulik M, Wilkens A, Spinner NB, Krantz I, Pennington J, Robinson P, White, P; Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics. 2014 Jul 21;15:248

Tilton RK, Wilkens A, Krantz ID, Izumi K; Cardiac Manifestation of Pallister Killian Syndrome. Am J Med Genet A. 2014 May; 16A(5):1130-5

2013

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH; Congenital Heart Defects in oculodentodigital syndrome: Report of two cases. Am J Med Genet A. 2013 Dec; 16A(12):3150-4

Gallant, E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID; Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations. Am J Med Genet A. 2013 Sep:161A(9):2148-57

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino, AA, Spinner NB, Deardorff MA; Clinical Features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A. 2013 Aug;161A(8):1929-39

Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID; Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia and photophobia syndrome. Pediatr Dermatol. 2013 Nov-Dec:30(6):3263-4

Kalish, JM Conlin L, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti T, Russo P, Mattei P, Mackenzie W, LiVolsi V, Nichols K, Biegel J, Spinner N, Deardorff MA; Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy. Am J Med Genet A. 2013 May; 161A(5):993-1001

Murray B, Wagle R, Amat-Alarcon, Wilkens A, Stephens P, Zackai EH, Goldmuntz, E, Calkins H, Deardorff MA, Judge DP; A Family with a Complex Clinical Presentation Characterized by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and Features of Branchio-Oculo-Facial Syndrome. Am J Med Genet A. 2013 Feb; 161A(2):371-6

2012

Wilkens, A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz, ID; Novel Clinical Manifestations in Pallister-Killian Syndrome: Comprehensive Evaluation of 59 Affected Individuals and Review of Previously Reported Cases. Am J Med Genet A. 2012 Dec; 158A(12):3002-17

Izumi I, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID; Duplication 12p and Pallister Killian Syndrome: a case report and review of the literature toward defining a Pallister Killian syndrome minimal critical region. Am J Med Genet A. 2012; 158A(12):3033-45

Haldeman-Englert C, Biser A, Zackai EH, Ming JE; A 223-kb de novo deletion of PAX9 in a patient with oligodontia. J Craniofac Surg. 2012 Mar; 23(2):e149-51

2008

Lorenzen J, Shah R, Biser A, Staicu SA, Niranjan T, Garcia AM, Gruenwald A, Thomas TB, Shatat IF, Supe K, Woroniecki RP, Susztak K; Osteopontin plays a role in the development of albuminuria. J Am Soc Nephrol. 2008 May; 19(5):884-90

2006

Szabo C, Biser A, Benko R, Bottinger E, Susztak K; Role of Poly (ADP-ribose) polymerase (PARP) in diabetic nephropathy. Diabetes. 2006 Nov; 55(11):3004-12