Holly A. Dubbs, MS

2019

Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhan S, Segal D, Au M, Graham JM, Verma S, Waggoner D, Shinawi M, Bönnemann CG, Chung WK, Chinnadurai G. (2019). A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics.

Berkovic SF, Goldstein DB, Heinzen EL, Laughlin BL, Lowenstein DH, Dubbs HA, et al. Epilepsy Genetics Initiative. (2019). The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. Epilepsia. 60:797–80

Dowsett L, Porras AR, Dubbs H, Kruszka P, et al. (2019). Cornelia de Lange syndrome in diverse populations. Am J Med Genet Part A;179A:150–158.

2018

Snijders Blok L, Hiatt SM, Bowling KM. Prokop JW, Engel KL, Dubbs HA, et al (2018). De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics 137:375–388.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Dubbs HA, e (2018). A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures, Cell 172 (5): 924-936.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Dubbs H, et al. (2018). Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet Part A;1–11.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Dubbs H, et al. (2018). Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia, DOI: 10.1111/epi.13986.

Straub J, Konrad EDH, Gruner J, Toutain A, Bok LA, Dubbs H, et al. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet, 

2017

McDonald Gibson K, 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, Lou M, Conlin L, Monos D, Sarmady M, Marsh E, MD, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. (2017). Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med advance online publication 12 October 2017.

Curiel J., Steinberg SJ, Bright S, Snowden A, Moser A, Eichler F, Dubbs HA, Joseph G. Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A. (2017). X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans. Molecular Genetics and Metabolism. doi:10.1016/j.ymgme.2017.08.012.

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, et al. (2017). Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. Published online August 14, 2017.

Lou M, Fan J, Wenger TL, Harr M, Racobaldo M, Mulchandani S, Dubbs H, Zackai EH, Spinner N, Colin L (2017).CMIP Haploinsufficiency in Two Patients with Autism Spectrum Disorder and Co-occurring Gastrointestinal Issues.  Am J Med Genet Part A, Accepted for publication April 9, 2017, #16-0946.R1, Article DOI: 10.1002/ajmg.a.38277.

Zarate YA, Kalsner L, Basinger A, Everman D, Jones J, Li C, Szybowska M, Vergano S, Caffrey A, Velasco Gonzalez C, Dubbs H, Zackai E, Fish JL.(2017) Genotype and Phenotype in 12 additional individuals with SATB2-Associated Syndrome.  Clinical Genetics, Accepted for publication January 25, 2017, CGE-00895-2016.R1.

Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen K, Dubbs H, et al. (2017). Mutations in GABRB3: from febrile seizures to epileptic encephalopathies. Neurology, 88, 1-10.

2016

Tian G, Cristancho AG, Dubbs HA, Liu GT, Cowan NJ, Goldberg EM (2016) A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.  Molecular Genetics & Genomic Medicine. Accepted for publication June 27, 2016. MGG3-2016-05-0054.

Zak J, Vives V, Szumska D, Vernet A, Schneider JE,Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins TA, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. (2016). ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. Cell Death and Differentiation.   Accepted for publication. CDD-16-0342.

Keen C, Dubbs HA, Zackai EH, Semango-Sprouse C.  (2016). 10-year-old Female with Intragenic KANSL1 Mutation, no KANSL1-related Intellectual Disability, and Preserved Verbal Intelligence. Am J Med Genet A, accepted for publication November 14, 2016. #16-0509.R1.

Tian G, Cristancho AG, Dubbs HA, Liu GT, Cowan NJ, Goldberg EM. (2016). A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. Molecular Genetics & Genomic Medicine 4(6): 599–603

2015

Zollino M, Marangi G, Ponzi E, Orteschi D, Murdolo M, Dubbs H, etal. (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet, Accepted for publication July 28, 2015. jmedgenet-2015-103184.R1.

Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A. (2015). Exome sequencing expands the mechanism of SOX5-associated intellectual disability: a case presentation with review of SOX-related disorders, Am J Med Genet A. Jun 25. doi: 10.1002/ajmg.a.37221.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp K, Elbracht M,

Eggermann T, Turner CLS, Temple IK, Mackay DJG, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. (2015). Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genetics in Medicine, accepted for publication June 3, 2015. #GIM-D-15-00152.

Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. (2015). Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A, accepted for publication July 4, 2015. #14-0946.R2.

Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP. (2015). Melorheostosis: Segmental Osteopoikilosis or a Separate Entity? J Pediatr Orthop 35:e13–e17.

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A,  Dubbs HA, Zackai EH, Parker MJ, Zamora FM, Rosenbaum K, Wilson GN, Nordgren A. (2015). Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Hum Genet 96:507-513.

Nevado J, Rosenfeld J, Mena R, Palomares M, Vallespin E, Dubbs H, et al. (2015). PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet, 23, 1615-1626.

2014

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Dubbs H, et al. (2014). Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics, doi:10.1093/hmg/ddu002

2013

Izumi K, Santani AB, Deardorff, MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. (2013). Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array. Am J Med Genet Part A, 161A:166-171.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. (2013). Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet Part A 161A:1929–1939.

Bhoj E, Dubbs H, McDonald-McGinn D, Zackai E.  (2013). Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history. Am J Med Genet Part A 161A:2396–2398.

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH. (2013). Congenital heart defects in oculodentodigital dysplasia: report of two cases. Am J Med Genet Part A 161A:3150-3154.

2012

Izumi K, Brooks SS, Feret HA, Zackai EH. (2012). 1.9Mb Microdeletion of 21q22.11 within Braddock-Carey Contiguous Gene Deletion Syndrome Region: Dissecting the Phenotype. Am J Med Genet Part A, 158A:1535-1541.

Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Feret H, et al. (2012). Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human Mutation, 33:457-466.

2011

Feret H, Conway L,  Austin JC. (2011)  Genetic counselors’ attitudes towards individuals with schizophrenia: Desire for social distance and endorsement of stereotypes.  Patient Educ Couns 82: 69-73.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ. (2011). Case series: 2q33.1 microdeletion syndrome- further delineation of the phenotype.  J Med Genet, 48:290-298.

Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Feret H, Meyn NS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L.  (2011).  Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.  Am J Med Genet Part A 155:1352-1359. 

2010

McDonald-McGinn DM, Feret H, Nah H-D, Bartlett SP, Whitaker LA, Zackai EH. (2010). Metopic craniosynostosis due to mutations in GLI3:  A novel association.  Am J Med Genet Part A 152A:1654-1660.

2009

Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH.  (2009).  A 781-kb deletion of 13q12.3 in a patient with Peters Plus syndrome.  Am J Med Genet A; 149A: 1842-1845.  

2018

Vanderver A, Helman G, Sherbini O, Cross Z, Woidill S, Ajay S, Flores J, Bennett M, McEachern J, Clause AR, Perry DL, Ulrick N, Schiffmann R, van der Knaap MS, Schmidt JL, Pizzino A, Dubbs H, Shults J, Simons C, Bernard G, Taft RJ. Prospective Whole Genome Sequencing in Pediatric White Matter Disorders (2018). Poster Presentation at 47th Annual Meeting of the Child Neurology Society, Chicago, IL.

2017

Dubbs H, Marsh E, Licht D, Banwell B, Goldberg E. (2017). Tubulinopathies: An important contributor to prenatally diagnosed brain malformations. Poster Presentation at 2017 ACMG Conference, Phoenix, AZ.

Dubbs H, Lewin N, Marsh ED, Licht D, Ortiz-Gonzalez X. (2017) Tubulinopathies: Expanding the phenotype associated with mutations in TUBB2A beyond epilepsy and brain malformations. Poster Presentation at 2017 Annual Meeting of the American Epilepsy Society, Washington, DC.

2019

Dubbs HA. “MECP2 and You: An Overview of the Genetics of Rett Syndrome”- 2019 Philadelphia Rettsyndrome.org RettEd Day, Langhorne, PA, May 18, 2019.