Publications

1. Cohen SA, Myers M, Palmer CGS, Trepanier A. Genetic counseling delivery, outcomes, training, and practice in response to COVID-19: Introduction to the special issue.. Journal of genetic counseling, 2021.
2. McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Undiagnosed Disease Network, Hooper SR, Shashi V. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.. Journal of genetic counseling, 2021.
3. Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.. Genetics in medicine : official journal of the American College of Medical Genetics, 2021.
4. Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Undiagnosed Diseases Network, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Expansion of NEUROD2 phenotypes to include developmental delay without seizures.. American journal of medical genetics. Part A, 2021.
5. Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.. Science advances, 2020.
6. Studwell CM, Kelley EG, Undiagnosed Diseases Network, Sinsheimer JS, Palmer CGS, LeBlanc K. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.. Journal of genetic counseling, 2020.
7. Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Novel NUDT2 variant causes intellectual disability and polyneuropathy.. Annals of clinical and translational neurology, 2020.
8. Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Undiagnosed Diseases Network, Nelson SF. Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.. Neuropathology : official journal of the Japanese Society of Neuropathology, 2020.
9. Fisher CF, Birkeland LE, Reiser CA, Zhao Q, Palmer CGS, Zikmund-Fisher BJ, Petty EM. Alternative option labeling impacts decision-making in noninvasive prenatal screening.. Journal of genetic counseling, 2019.
10. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.. Genetics in medicine : official journal of the American College of Medical Genetics, 2019.
11. McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Undiagnosed Diseases Network, Hooper SR, Shashi V. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.. Clinical genetics, 2019.
12. Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Undiagnosed Diseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.. Journal of genetic counseling, 2019.
13. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.. Human mutation, 2019.
14. Macnamara EF, Schoch K, Kelley EG, Fieg E, Brokamp E, Undiagnosed Diseases Network, Signer R, LeBlanc K, McConkie-Rosell A, Palmer CGS. Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.. Journal of genetic counseling, 2019.
15. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.. The New England journal of medicine, 2018.
16. Palmer CGS, McConkie-Rosell A, Holm IA, LeBlanc K, Sinsheimer JS, Briere LC, Dorrani N, Herzog MR, Lincoln S, Schoch K, Spillmann RC, Brokamp E, Undiagnosed Diseases Network. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.. Journal of genetic counseling, 2018.
17. McConkie-Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang YH, Cope H, Undiagnosed Diseases Network, Palmer C, Shashi V. Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?. Journal of genetic counseling, 2018.
18. Boudreault P, Wolfson A, Berman B, Venne VL, Sinsheimer JS, Palmer C. Bilingual Cancer Genetic Education Modules for the Deaf Community: Development and Evaluation of the Online Video Material.. Journal of genetic counseling, 2017.
19. Palmer CG, Boudreault P, Berman BA, Wolfson A, Duarte L, Venne VL, Sinsheimer JS. Bilingual approach to online cancer genetics education for Deaf American Sign Language users produces greater knowledge and confidence than English text only: A randomized study.. Disability and health journal, 2016.
20. Doyle DL, Awwad RI, Austin JC, Baty BJ, Bergner AL, Brewster SJ, Erby LA, Franklin CR, Greb AE, Grubs RE, Hooker GW, Noblin SJ, Ormond KE, Palmer CG, Petty EM, Singletary CN, Thomas MJ, Toriello H, Walton CS, Uhlmann WR. 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.. Journal of genetic counseling, 2016.
21. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Clinical exome sequencing for genetic identification of rare Mendelian disorders.. JAMA, 2014.
22. Palmer CG, Boudreault P, Baldwin EE, Sinsheimer JS. Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study.. PloS one, 2014.
23. Nagakura H, Schneider G, Morris J, Lafferty KA, Palmer CG. Assessing deaf awareness training: knowledge and attitudes of recent genetic counseling graduates.. Journal of genetic counseling, 2014.
24. Schully SD, Lam TK, Dotson WD, Chang CQ, Aronson N, Birkeland ML, Brewster SJ, Boccia S, Buchanan AH, Calonge N, Calzone K, Djulbegovic B, Goddard KA, Klein RD, Klein TE, Lau J, Long R, Lyman GH, Morgan RL, Palmer CG, Relling MV, Rubinstein WS, Swen JJ, Terry SF, Williams MS, Khoury MJ. Evidence synthesis and guideline development in genomic medicine: current status and future prospects.. Genetics in medicine : official journal of the American College of Medical Genetics, 2014.
25. Roche MI, Palmer CG. Next generation genetic counseling: introduction to the special issue.. Journal of genetic counseling, 2014.
26. Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C, ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congen, Professional Practice and Guidelines Committee. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.. Genetics in medicine : official journal of the American College of Medical Genetics, 2014.
27. Kobayashi Y, Boudreault P, Hill K, Sinsheimer JS, Palmer CG. Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community.. BMC medical research methodology, 2013.
28. Palmer CG, Boudreault P, Baldwin EE, Fox M, Deignan JL, Kobayashi Y, Sininger Y, Grody W, Sinsheimer JS. Deaf genetic testing and psychological well-being in deaf adults.. Journal of genetic counseling, 2013.
29. Childs EJ, Sobel EM, Palmer CG, Sinsheimer JS. Detection of intergenerational genetic effects with application to HLA-B matching as a risk factor for schizophrenia.. Human heredity, 2011.
30. Baldwin EE, Boudreault P, Fox M, Sinsheimer JS, Palmer CG. Effect of pre-test genetic counseling for deaf adults on knowledge of genetic testing.. Journal of genetic counseling, 2011.
31. Childs EJ, Palmer CG, Lange K, Sinsheimer JS. Modeling maternal-offspring gene-gene interactions: the extended-MFG test.. Genetic epidemiology, 2010.
32. Boudreault P, Baldwin EE, Fox M, Dutton L, Tullis L, Linden J, Kobayashi Y, Zhou J, Sinsheimer JS, Sininger Y, Grody WW, Palmer CG. Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study.. Journal of deaf studies and deaf education, 2010.
33. Palmer CG. Evidence for maternal-fetal genotype incompatibility as a risk factor for schizophrenia.. Journal of biomedicine & biotechnology, 2010.
34. Resta RG, McCarthy Veach P, Charles S, Vogel K, Blase T, Palmer CG. Publishing a master's thesis: a guide for novice authors.. Journal of genetic counseling, 2010.
35. Enns EE, Boudreault P, Palmer CG. Examining the relationship between genetic counselors' attitudes toward deaf people and the genetic counseling session.. Journal of genetic counseling, 2009.
36. Palmer CG, Martinez A, Fox M, Zhou J, Shapiro N, Sininger Y, Grody WW, Schimmenti LA. A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants.. American journal of medical genetics. Part A, 2009.
37. Palmer CG, Lueddeke JT, Zhou J. Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child.. Genetics in medicine : official journal of the American College of Medical Genetics, 2009.
38. Palmer CG, Mallery E, Turunen JA, Hsieh HJ, Peltonen L, Lonnqvist J, Woodward JA, Sinsheimer JS. Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex.. Schizophrenia research, 2008.
39. Schimmenti LA, Martinez A, Telatar M, Lai CH, Shapiro N, Fox M, Warman B, McCarra M, Crandall B, Sininger Y, Grody WW, Palmer CG. Infant hearing loss and connexin testing in a diverse population.. Genetics in medicine : official journal of the American College of Medical Genetics, 2008.
40. Hsieh HJ, Palmer CG, Harney S, Chen HW, Bauman L, Brown MA, Sinsheimer JS. Using the maternal-fetal genotype incompatibility test to assess non-inherited maternal HLA-DRB1 antigen coding alleles as rheumatoid arthritis risk factors.. BMC proceedings, 2007.
41. Austin JC, Palmer CG, Rosen-Sheidley B, Veach PM, Gettig E, Peay HL. Psychiatric disorders in clinical genetics II: Individualizing recurrence risks.. Journal of genetic counseling, 2007.
42. Peay HL, Veach PM, Palmer CG, Rosen-Sheidley B, Gettig E, Austin JC. Psychiatric disorders in clinical genetics I: Addressing family histories of psychiatric illness.. Journal of genetic counseling, 2007.
43. Palmer CG, Martinez A, Fox M, Sininger Y, Grody WW, Schimmenti LA. Ethnic differences in parental perceptions of genetic testing for deaf infants.. Journal of genetic counseling, 2007.
44. Blase T, Martinez A, Grody WW, Schimmenti L, Palmer CG. Sharing GJB2/GJB6 genetic test information with family members.. Journal of genetic counseling, 2007.
45. Hsieh HJ, Palmer CG, Sinsheimer JS. Allowing for missing data at highly polymorphic genes when testing for maternal, offspring and maternal-fetal genotype incompatibility effects.. Human heredity, 2006.
46. Palmer CG, Hsieh HJ, Reed EF, Lonnqvist J, Peltonen L, Woodward JA, Sinsheimer JS. HLA-B maternal-fetal genotype matching increases risk of schizophrenia.. American journal of human genetics, 2006.
47. Hsieh HJ, Palmer CG, Harney S, Newton JL, Wordsworth P, Brown MA, Sinsheimer JS. The v-MFG test: investigating maternal, offspring and maternal-fetal genetic incompatibility effects on disease and viability.. Genetic epidemiology, 2006.
48. Palmer CG, Martinez A, Sininger Y, Shapiro N, Grody WW, Schimmenti LA. Prelingual siblings of children with GJB2 hearing loss: issues to consider.. Archives of otolaryngology--head & neck surgery, 2005.
49. Palmer CG, Hadley DW. Evaluating the impact of genetic counseling and testing with signal detection methods.. Journal of genetic counseling, 2005.
50. Minassian SL, Palmer CG, Sinsheimer JS. An exact maternal-fetal genotype incompatibility (MFG) test.. Genetic epidemiology, 2005.
51. Schimmenti LA, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M, Sininger Y, Grody WW, Palmer CG. Genetic testing as part of the early hearing detection and intervention (EHDI) process.. Genetics in medicine : official journal of the American College of Medical Genetics, 2004.
52. Kraft P, Palmer CG, Woodward AJ, Turunen JA, Minassian S, Paunio T, Lönnqvist J, Peltonen L, Sinsheimer JS. RHD maternal-fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order.. European journal of human genetics : EJHG, 2004.
53. Hadley DW, Jenkins JF, Dimond E, de Carvalho M, Kirsch I, Palmer CG. Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer.. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2004.
54. Martinez A, Linden J, Schimmenti LA, Palmer CG. Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.. Genetics in medicine : official journal of the American College of Medical Genetics, 2003.
55. Sinsheimer JS, Palmer CG, Woodward JA. Detecting genotype combinations that increase risk for disease: maternal-fetal genotype incompatibility test.. Genetic epidemiology, 2003.
56. Gasperoni TL, Ekelund J, Huttunen M, Palmer CG, Tuulio-Henriksson A, Lönnqvist J, Kaprio J, Peltonen L, Cannon TD. Genetic linkage and association between chromosome 1q and working memory function in schizophrenia.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2003.
57. Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.. American journal of human genetics, 2002.