Assistant Director for Clinical Training, Graduate Program in Genetic Counseling
Certified Genetic Counselor
Publications
•American College of Medical Genetics Annual Clinical Genetics Meeting Poster 329 March 2015: "Clinical Features of Tatton-Brown-Rahman Syndrome in a Girl with a 2p24.1-2p23.3 Deletion that Includes the DNMT3A Locus".
Diagnostic Yield of Genetic Evaluation and Testing at the Children’s Hospital Colorado Autism Specialty Genetics Clinic. Poster A346. National Society of Genetic Counselor Annual Education Meeting in Seattle, Washington.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet. 2018 Jan 17. [Epub ahead of print] PubMed PMID: 29394990
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 Sep 5;105(3):493-508. PubMed PMID: 31447100
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 Sep 5;105(3):631-639. PubMed PMID: 31353024
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical spectrum of STX1B -related epileptic disorders. Neurology. 2019 Mar 12;92(11):e1238-e1249. PubMed PMID: 30737342
Fischer-Zirnsak, B, Lara Segebrecht, Perrine Charles, MD, PhD, Boerkoel, C, Brown, K, Cartwright, T, Y Chen, Y, Costin, C, Fehr, S, Foss, K, Ha, T, Hildebrand G, Horn, D, Liu, S, Marco, E, McDonald, M, , McWalter, K, Race, S, Schubach, M, Cindy Si, Y, Slavotinek, A, Stockler, S, Telegrafi, A, Torti, E, Tsai, A, Wang, X, Zafar, M, Keren, B, Kornak, U, Mirzaa, G, Ehmke, N. Mutations in DLL1 cause variable neurodevelopmental disorders. Presented at the European Society of Human Genetics, 2019, Gothenburg, Sweden. (Poster)
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Rare SUZ12 variants commonly cause an overgrowth phenotype. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. PubMed PMID: 31736240
Gracie, S., Sengupta, N., Larson, A., Ferreira, C., Pemberton, J. Brown, K., Tamas, B. Novel de novo loss of function mutation in PTDSS1 in a female with typical growth, autism spectrum disorder and developmental delay. Presented at the Semi-Annual Colorado Genetic Counselor Symposium, 2019, Aurora, Colorado AND NSGC 2019, Salt Lake City, Utah (Poster)
Szmyd, C., Brown, K., Larabell, S., Smith, A. Diagnostic yield of a multi-gene panel for neurodevelopmental disorders at Children’s Hospital Colorado. Presented at the National Society of Genetic Counselors Annual Education Conference, 2019, Salt Lake City, Utah. (Poster)
Genetic Counselor Clinical Supervisor Training Program for the National Society of Genetic Counselors. Webinar.
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genet Med. 2020 Nov 5. [Epub ahead of print] PubMed PMID: 33149277
Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. Clin Genet. 2020 Nov 1. [Epub ahead of print] PubMed PMID: 33131045
Kojic M, Gawda T, Gaik M, Begg A, Salerno-Kochan A, Kurniawan ND, Jones A, Drozdzyk K, Koscielniak A, Chramiec-Glabik A, Hediyeh-Zadeh S, Kasherman M, Shim WJ, Sinniah E, Genovesi LA, Abrahamsen RK, Fenger CD, Madsen CG, Cohen JS, Fatemi A, Stark Z, Lunke S, Lee J, Hansen JK, Boxill MF, Keren B, Marey I, Saenz MS, Brown K, Alexander SA, Mureev S, Batzilla A, Davis MJ, Piper M, Bodén M, Burne THJ, Palpant NJ, Møller RS, Glatt S, Wainwright BJ. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nat Commun. 2021 May 11;12(1):2678. PubMed PMID: 33976153
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Delineating the genotypic and phenotypic spectrum of HECW2 -related neurodevelopmental disorders. J Med Genet. 2021 Jul 28. [Epub ahead of print] PubMed PMID: 34321324
AlFardan J, Brown K, Gessner J, Lunt B, Scharer G. Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region. Clin Dysmorphol. 2011 Oct;20(4):217-221. PubMed PMID: 21734561
Gracie S, Sengupta N, Ferreira C, Pemberton J, Anderson I, Wang X, Rhodes L, Brown K, Balla T, Larson A. De novo loss-of-function variant in PTDSS1 is associated with developmental delay. Am J Med Genet A. 2022 Jun;188(6):1739-1745. PubMed PMID: 35224839
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genet Med. 2023 Aug;25(8):100885. PubMed PMID: 37165955
Crenshaw MM, Meyers ML, Brown K, Slegesky V, Duis J, Elias ER, Saenz M, Shi W, Filmus J, Meeks NJL. Five siblings expand the spectrum of GPC6-related skeletal dysplasia. Am J Med Genet A. 2023 Oct;191(10):2571-2577. PubMed PMID: 37353964
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2023 Oct 23. [Epub ahead of print] PubMed PMID: 37872713
Baker PR, Tsai AC, Springer M, Swisshelm K, March J, Brown K., Bellus G. Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization. J Craniofacial Surgery. 2010 Sep;21(5):1369-75. PMID: 20856023
Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM. POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia. Epilepsia. 2024 Sep 30. [Epub ahead of print] PubMed PMID: 39348199
Gracie S, Deshpande P, Hollos P, De Dios K, Martin DM, Pritchard AB, Scott Schwoerer JA, Behrmann MR, Seaver LH, Brown K, Fernandez RJ, Larson A, Coffey E. Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series. Am J Med Genet A. 2024 Nov 6;:e63927. [Epub ahead of print] PubMed PMID: 39503049
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2024 Mar;194(3):e63445. PubMed PMID: 37872713
Aref-Eshghi E, Anderson KJ, Boulay L, Brown K, Duis J, Giummo CA, Ogawa J, Carere DA, Normand EA, Qian Y, McWalter K, Torti E. Germline De Novo Alterations of RUNX1T1 in Individuals with Neurodevelopmental and Congenital Anomalies. HGG Adv. 2024 Nov 19;:100384. [Epub ahead of print] PubMed PMID: 39568205