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Attention: Check out this 2-day webinar and workshop on Qualitative Research being offered by Geisinger Health System

Qualitative Research Bootcamp.GIF

Research Mentorship Group

The AGA Research Mentorship Group (RMG) supports students and genetic counselors, focusing on research, publication, funding, and education. The group meets quarterly on April 3rd, July 17th, and October 9th 7-8pm (2025).

 

The goals of the RMG include:

  • Promotion of genetic counseling research projects in Arizona

  • Collaborate and facilitate research among GCs to promote completion of existing projects and kick start new research ideas

  • Support with publication of studies and graduate projects in peer-reviewed journals

  • Provide feedback on project designs, funding, statistics, IRB submission process,           CITI training

  • Educational talks on manuscript writing, grant writing, journal requirements

  • Maintenance of a database of potential GC research projects for graduate students

  • Assistance with finding thesis and capstone project mentors/committee members

 

If you are interested in participating in the AGA Research Mentorship Group or would like to find out more, please contact us here.

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Conference Presentations and Abstracts

2025

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  • American College of Medical Genetics Meeting· Chloe DeGiorgio, Student. “Exome sequencing in patients with primary hyperparathyroidism identifies pathogenic variants after negative panel testing” (Link​)

  • American College of Medical Genetics Meeting · Oral Presentation · Leor Friedman, Student. “Lymphatic Dysplasia in Association with Hajdu-Cheney Syndrome: Case Report”

  • American College of Medical Genetics Meeting · Keri Ramsey, MS, CGC. “Genome sequencing after negative exome sequencing: Results in a rare disease cohort” (Link)

  • American College of Medical Genetics Meeting· Taylor Vaughn, MS, CGC. “Thirty-year odyssey to dual diagnoses: Value of longitudinal genetics follow-up” (Link​)

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​2024

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  • Child Neurology Society Meeting · Keri Ramsey, MS, CGC. “Case report: a novel, deep intronic insertion of ~306kb of Chromosome 10 in the DMD gene as a cause of Duchenne muscular dystrophy” (Link)

  • American College of Medical Genetics Meeting· Becki Ross, MS, CGC. “Evaluation of stop-loss and frameshift variants extending translation beyond the reference stop codon detected by carrier screening” (Link)

  • American College of Medical Genetics Meeting· Supraja Prakash, MS, CGC. “Value of early evaluations with comprehensive genetic testing in congenital heart disease and childhood onset heart failure: Case report” (Link)

  • The Arizona Clinical Oncology Society (TACOS) Fall Conference · Oral Presentation· Lauren Maynard, MS, CGC. “Genetic Counseling as a Part of Multidisciplinary Care in Caring for Young Patients with Cancer" (Link)

  • University of Arizona Cancer Center Scientific Retreat · Lauren Maynard, MS, CGC. "Germline Mutation Spectrum, Demographics, and Outcomes in Patients at the University of Arizona Cancer Center: A retrospective Analysis." (Link)

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Arizona Genetic Alliance Meeting 

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2023

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  • American Association for Cancer Research · Emily Gay, MS, CGC · Minisymposium Session · "Behavioral and Biological Opportunities to Improve Cancer Prevention, Early Detection, and Disparities" (Link)

  • American College of Medical Genetics Meeting· Madison LaFleur, MS, CGC. “Initial Experience from a Single Laboratory on Custom Hereditary Cancer Panel Orders” (Link​)

  • American Society of Human Genetics Meeting · Keri Ramsey, MS, CGC. Oral workshop presentation titled, “An efficient design for whole genome trio sequencing leads to high diagnostic yield in rare neurological disease cases.” (Link)

  • National Society of Genetic Counseling Meeting · Madison LaFleur, MS, CGC ·  Abstract and platform presentation, “Hereditary Cancer Genetic Testing in Males: A Missed Opportunity for Cancer Prevention"

  • San Antonio Breast Cancer Symposium · Karen Dirrigl, MS, CGC. Oral presentation titled, “Barriers to Genetic Counseling.”​​​

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Decorative Dried Plants
White WIld Flowers

AGA Member Publications

Wei W, Shaibi GQ, Cooper-Hastings L, Newbern D. Familial Glucocorticoid Deficiency in Twins: A Novel Mutation and Impact on Social Determinants of Health Outcome. JCEM Case Rep. 2024 Dec 13;3(1):luae224. doi: 10.1210/jcemcr/luae224. PMID: 39678650; PMCID: PMC11644469.

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Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. PMID: 39595988; PMCID: PMC11593467.

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Ramsey, K, LaFleur M, Robinson K, Borgstrom M, Ryan A, Narayanan V, Schaibley V. Family and caregiver perspectives on gene therapy for Rett syndrome. Rare. Volume 2, 2024, 100045, ISSN 2950-0087, https://doi.org/10.1016/j.rare.2024.100045. (https://www.sciencedirect.com/science/article/pii/S2950008724000280)

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Belnap N, Ramsey K, Abraham A, Ryan A, Rangasamy S, Bonfitto A, Naymik M, Huentelman M, Strom S, Perry D, Subramaniam A, Grody WW, Szelinger S, Narayanan V. Expanded carrier screening for inherited genetic disease using exome and genome sequencing. J Genet Couns. 2025 Apr;34(2):e1964. doi: 10.1002/jgc4.1964. Epub 2024 Aug 27. PMID: 39189540; PMCID: PMC11953577.

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Samadder NJ, Gay E, Lindpere V, Bublitz ML, Bandel LA, Armasu SM, Vierkant RA, Ferber MJ, Klee EW, Larson NB, Kruisselbrink TM, Egan JB, Kemppainen JL, Bidwell JS, Anderson JL, McAllister TM, Walker TS, Kunze KL, Golafshar MA, Klint MA, Presutti RJ, Bobo WV, Sekulic A, Summer-Bolster JM, Willman CL, Lazaridis KN. Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations. JCO Precis Oncol. 2024 Jul;8:e2400106. doi: 10.1200/PO.24.00106. PMID: 39013133.

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​Maloney KA, Mizerik E, King RH, McGinnis EM, Perkowitz S, Diamonstein CJ, Schmanski AA, Saliganan S, Shipper AG, Udler MS, Guan Y, Pollin TI. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors. J Genet Couns. 2024 Jun;33(3):493-505. doi: 10.1002/jgc4.1744. Epub 2023 Aug 3. PMID: 37537905.

 

Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, et al. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. PMID: 38357931; PMCID: PMC10866660.

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Paysour J, Shehayeb S, McVayre K, Garg S, Amir F, Vercruyssen A, Sitaula A, Gerhart M, Greenberg SE. From intention to action: Assessing need and creating a JEDI toolkit for individuals teaching cancer genetics curriculum. J Genet Couns. 2024 Feb;33(1):156-163. doi: 10.1002/jgc4.1851. Epub 2024 Feb 4. PMID: 38310611.

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​Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, Küpper H, Petit F, Ibrahim V, Top D, Di Cara F; Genomics England Research Consortium; Louie RJ, Stolerman E, Brunner HG, Vissers LELM, Kramer JM, Kleefstra T. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. PMID: 37196654; PMCID: PMC10257005.

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Fazenbaker AC, Munro CD, Carlson JC, Durst AL, Vento JM. Epilepsy panel testing criteria: A clinical assessment. J Genet Couns. 2024 Apr;33(2):352-360. doi: 10.1002/jgc4.1732. Epub 2023 May 28. PMID: 37246482.

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Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, et al. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. PMID: 36074901; PMCID: PMC10319782.

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Bednar EM, Chen M, Walsh MT Jr, Eppolito AL, Klein MH, Teed K, Hodge B, Hunter J, Chao HG, Davis D, Serchion W, Yobbi C, Krukenberg R, Jenkinson SB, Moore JJ, Garcia C, Gonzalez F, Murray T, Nielsen LD, Ho B, Haas M, Greenzweig SB, Anderson A, Johnson C, Morman NA, Bowdish E, Wise E, Cooper JN, Russ PK, Tondo-Steele K, de Gracia BF, Levin B, Mattie K, Zarnawski K, Kalasinski M, Stone J, O'Brien C, Bream A, Kennedy AM, Paul RA, Bilbao M, Romero M, Carr RL, Siettmann JM, Vercruyssen AK, Leon K, Arun BK, Grainger AV, Warshal DP, Bowman E, Goedde TA, Halaharvi D, Rath K, Grana G, Mina L, Lu KH. Outcomes of the "BRCA Quality Improvement Dissemination Program": An initiative to improve patient receipt of cancer genetics services at five health systems. Gynecol Oncol. 2023 May;172:106-114. doi: 10.1016/j.ygyno.2023.03.016. Epub 2023 Mar 31. PMID: 37004303; PMCID: PMC10192022.​

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​Villavicencio EA, Maldonado A, Crocker RM, Guan Y, Stallman C, Garcia DO. Communicating PNPLA3 genetic risk status for NAFLD among Mexican-origin men. Front Public Health. 2023 Jan 4;10:1090101. doi: 10.3389/fpubh.2022.1090101. PMID: 36684893; PMCID: PMC9846364.

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Bednar EM, Harper B, Walsh MT Jr, Rechis R, Bilbao M, Carr RL, Eppolito AL, Goedde T, Levin B, Mattie K, Morman NA, Rath K, Russ P, Siettmann JM, Warshal D, Wise E, Yobbi C, Lu KH. Implementation and outcome evaluations of a multi-site improvement program in cancer genetics. J Genet Couns. 2023 Feb;32(1):182-196. doi: 10.1002/jgc4.1633. Epub 2022 Sep 19. PMID: 36117454.

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Carroll J, Pabst L, Koboldt DC, Franklin SJ, Choi S, Wilson RK, Lo W. Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome. Pediatr Neurol. 2023 Jan;138:95-97. doi: 10.1016/j.pediatrneurol.2022.10.007. Epub 2022 Oct 28. PMID: 36434915.

 

Prakash S, et al. Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis. J Genet Couns. 2022 Dec;31(6):1404-1420. doi: 10.1002/jgc4.1615. Epub 2022 Aug 1. PMID: 35915971.​​

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King C, Nielsen S, Schmanski A, Abdul-Rahman O, Fishler KP. Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center. J Genet Couns. 2022 Dec;31(6):1282-1289. doi: 10.1002/jgc4.1603. Epub 2022 Jul 4. PMID: 35781721; PMCID: PMC10084315.

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Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. PMID: 35232796; PMCID: PMC9433470.

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Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. PMID: 36408368; PMCID: PMC9673101.

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Goode E, Montoya L, Graham E, Pruniski B, et al. Diagnostic and Prognostic Implications of GNAS Inactivation in Sonic Hedgehog-Activated Medulloblastoma: Case Report with Comprehensive Molecular Profiling and Review of Literature. JCO Precis Oncol. 2022 Mar;6:e2100403. doi: 10.1200/PO.21.00403. PMID: 35357904; PMCID: PMC9848563.

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Schaibley VM, Ramos IN, Woosley RL, Curry S, Hays S, Ramos KS. Limited Genomics Training Among Physicians Remains a Barrier to Genomics-Based Implementation of Precision Medicine. Front Med (Lausanne). 2022 Mar 18;9:757212. doi: 10.3389/fmed.2022.757212. PMID: 35372454; PMCID: PMC8971187.

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Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, et al. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. Eur J Hum Genet. 2022 Jan;30(1):111-116. doi: 10.1038/s41431-021-00985-9. Epub 2021 Oct 28. PMID: 34707297; PMCID: PMC8738743.

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Siettmann JM, Arun B, Gasparini J, Mina LA. Personalized Breast Cancer Risk Assessment: Incorporation of Genetic and High-Risk Factorson Breast Cancer Risk and Management. Chirurgia (Bucur). 2021 Dec;116(5 Suppl):S22-S34. doi: 10.21614/chirurgia.116.5.suppl.S22. PMID: 34967308.

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Hunt Brendish K, Patel D, Yu K, Alexander CK, Lemons J, Gunter A, Carmany EP. Genetic counseling clinical documentation: Practice Resource of the National Society of Genetic Counselors. J Genet Couns. 2021 Oct;30(5):1336-1353. doi: 10.1002/jgc4.1491. Epub 2021 Aug 14. PMID: 34390070.

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Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, et al. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. PMID: 34314705; PMCID: PMC8456166.

 

Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, et al. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Hum Mol Genet. 2021 Nov 16;30(23):2300-2314. doi: 10.1093/hmg/ddab192. PMID: 34245260; PMCID: PMC8600029.

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Stallman C, Kieran S, Quinn D, Schaibley VM. Rethinking genetic counseling clinical skills training in the time of COVID-19. J Genet Couns. 2021 Oct;30(5):1310-1315. doi: 10.1002/jgc4.1503. Epub 2021 Sep 18. PMID: 34536043; PMCID: PMC8656321.

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Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, et al. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. PMID: 33909990; PMCID: PMC8206150.

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Schmanski A, Roberts E, Coors M, Wicks SJ, Arbet J, Weber R, Crooks K, Barnes KC, Taylor MRG. Research participant understanding and engagement in an institutional, self-consent biobank model. J Genet Couns. 2021 Feb;30(1):257-267. doi: 10.1002/jgc4.1316. Epub 2020 Sep 20. PMID: 32951257.

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Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. PMID: 33596411; PMCID: PMC8008487.

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Loving VA, Luiten RC, Siettmann JM, Mina LA. A Breast Radiology Department-operated, Proactive Same-day Program Identifies Pathogenic Breast Cancer Mutations in Unaffected Women. Acad Radiol. 2022 Jan;29 Suppl 1:S239-S245. doi: 10.1016/j.acra.2020.12.005. Epub 2020 Dec 16. PMID: 33339730.​

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Loving VA, Luiten RC, Siettmann JM, Mina LA. A Breast Radiology Department-operated, Proactive Same-day Program Identifies Pathogenic Breast Cancer Mutations in Unaffected Women. Acad Radiol. 2022 Jan;29 Suppl 1:S239-S245. doi: 10.1016/j.acra.2020.12.005. Epub 2020 Dec 16. PMID: 33339730.

©2024 by Arizona Genetics Alliance.

Last update: August 2024

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