Kathleen Brown, MS, CGC
Associate Professor, Pediatrics-Clinical Genetics and Metabolism

Professional Titles

• Assistant Director for Clinical Training, Graduate Program in Genetic Counseling
• Certified Genetic Counselor

Teaching

Publications

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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

Professional Memberships

• National Society of Genetic Counselors, Education Co-Chair, Pediatric and Clinical Genetics Special Interest Group
• Association of Genetic Counseling Program Directors, Full Member, Full Member
• American Board of Genetic Counseling,, Certified Genetic Counselor