Christina A. Gurnett, MD, PhD

2025

Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebauoi S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basuz C, Spartaro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D’Gama AM, Valentine R, Trowbridge SK, Murali CN, Fanciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder, Am J Hum Genet, 2025, Mar 6;112(3):537-553.

Li P, Butler A, Zhou Y, Magleby KL, Gurnett CA, Salkoff L, Case report:  targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy, Front Pharmacol, 2025, Jan 15; 15:1528541.

Cole JJ, Williams JP, Sellitto AD, Baratta LR, Heucker JB, Baldridge D, Kannampallil T, Gurnett CA, Balls-Berry JE. Association of social determinants of health with genetic test request and completion rates in children with neurologic disorders, Neurology, 2025, Mar 11; 104(5):e210275.

Pehlivan E, Zempel J, Coble J, Graves S, McEvoy S, Smyth M, Thio KLL, Gurnett C, Roland J, Guerriero RM, Tomko SR, Advanced technology clinic provides personalized approach to pediatric epilepsy surgery: Early data and future directions, Mo Med, 2025, 122(1): 39-45.

Cole JJ, Sellitto AD, Baratta LR, Heucker JB, Balls-Berry JJE, Gurnett CA. Social determinants of genetic referral and completion rates among pediatric neurology patients, Pediatr Neurol, 165: 78-86, 2025.

Ng JK, Chen Y, Akinwe TM, Heins HB, Mehinovic E, Chang Y, Gutmann DH, Gurnett CA, Payne ZL, Manual JG, Karchin R, Turner TN. Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer, Cell Genom, 2025, Mar 4:100807.

Charng WL, Haller G, Whittle J, Nikolov M, Avery A, Morcuende J, Giampietro P, Raggio C, Miller N, Justice AE, Strande NT, Seeley M, Bodian DL, Wise CA, Sepich DS, Dobbs MB, Gurnett CA. Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis, J Med Genet, 2025, in press.

Callahan NC, Mahida S, Sveden A, Quinn M, Chopra M, Srivastava S, Brain Gene Registry Consortium. Expansion of the genotypic and phenotypic spectrum of SETD5 disorder using data from the national brain gene registry, Clin Genet, 2025, in press.

Kaster L, Hillis E, Oh IY, Aravamuthan BR, Lanzotti CV, Vickstrom CR, Brain Gene Registry Consortium, Gurnett CA, Payne PRB, Gupta A.  Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models, J Neurodev Disord, 2025, 17(1):24.

2024

DeKorver NW, Zhao W, Butler MR, Di Luca DG, Gurnett C, Nascimento F. An adult with KCNA2-related epilepsy and ataxia, Epileptic Disord, 2024, 26(2):264-266.

Walsh TJ, Kalb LG, Gemmell M, Liu J, Caburnay CA, Gurnett CA, Newland JG, Compass-T Study Group. Assessment of COVID-19 messaging strategies to increase testing for students with intellectual and developmental disabilities, J Sch Health, 2024, 94(6):551-561.

Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. The Brain Gene Registry: a data snapshot, J Neurodev Disord, 2024, 16(1):17.

Charng WL, Nikolov M, Shrestha I, Seeley MA, Josyula NS, Justice AE, Dobbs MB, Gurnett CA. Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene, J Med Genet, 2024, 61(7):699-704.

Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, Campbell CA. Intellectual and Developmental disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing, Survey of the landscape of society practice guidelines for genetic testing of neurodevelopmental disorders, Ann Neurol, 2024, 96(6):900-913.

Mead AF, Wood NB, Nelson SR, Palmer BM, Yang L, Previs SB, Ploysangngam A, Kennedy GG, McAdow JF, Tremble SM, Zimmerman MA, Cipolla MJ, Ebert AM, Johnson AN, Gurnett CA, Previs MJ, Warshaw DM. Functional role of myosin-binding protein H in thick filaments of developing fast-twitch skeletal muscle, J Gen Physiol, 2024, Dec 2;156(12):e202413604.

2023

Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome, Ann Clin Transl Neurol, 2023, 10(5):786-801.

Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna N. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis, Hum Mol Genet, 2023, 32(19):2913-2928.

Gemmell M, Sherby MR, Walsh TJ, Kalb LG, Johnson SB, Coller RJ, DeMuri GP, Nuthals E, McBride J, Newland JG, Gurnett CA. Recommendations for SARS-CoV-2 Testing in Children with Disabilities and Medical Complexity, Pediatrics, 2023, 152(Suppl 1): e2022060352.

Goldman JL, Kalu IC, Schuster JE, Erickson T, Mast DK, Zimmerman K, Benjamin DK, Kalb LG, Gurnett C, Newland JG, Sherby M, Godambe M, Shinde N, Watterson T, Walsh T, Foxe J, Zand M, Dewhurst S, Coller R, DeMuri GP, Archuleta S, Ko LK, Inkelas M, Manuel V, Lee R, Oh H, Murugan V, Kramer J, Okihiro M, Gwynn L, Pulgaron E, McCulloh R, Broadhurst J, McDaniels-Davidson C, Kiene S, Oren E, Wu Y, Wetter DW, Stump T, Brookhart MA, Fist A, Haroz E. Building School-Academic Partnerships to Implement COVID-19 Testing in Underserved Populations, Pediatrics, 2023, 152(Suppl 1): e2022060352.

Uthappa DM, Mann TK, Goldman JL, Schuster JE, Newland JG, Anderson WB, Dozier A, Inkelas M, Foxe JJ, Gwynn L, Gurnett CA, McDaniels-Davidson C, Walsh T, Watterson T, Holden-Wiltse J, Potts JM, D’Agostino EM, Zandi K, Corbett A, Spallina S, DeMuri GP, Wu YP, Pulgaron ER, Kiene SM, Oren E, Allison-Burbank JD, Okihiro M, Lee RE, Johnson SB, Stump TK, Coller RJ, Mast DK, Haroz EE, Kemp S, Benjamin DK, Zimmerman KO. Common Data Element Collection in Underserved School Communities: Challenges and Recommendations, Pediatrics, 2023, 152(Suppl 1):e2022060352.

Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Yin Cheung JP, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis, Elife, 2024, Jan 26;12:RP89762.

Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis, Hum Mol Genet, 2023, 32(19):2913-2928.

Northrup RA, Jones E, Singh V, Holingue C, Meck M, Gurnett CA, van Stone M, Kalb LG. Caregiver perspectives on the continued impact of the COVID-19 pandemic on children with intellectual/developmental disabilities, Front Pediatr, 2023, 11:1196275.

Cole JJ, Sellitto AD, Baratta LR, Huecker JB, Balls-Berry JE, Gurnett CA. Social determinants of genetics referral and completion rates among child neurology patients, medRxiv, 2023, Sept 13.

Gemmel M, Walsh T, Sherby M, Imbeah A, Bono K, Baldenweck M, Gurnett C, Newland JG. Clusters of SARS-CoV-2 infection across six schools for students with intellectual and developmental disabilities, Infect Dis Ther, 2023, 12(9):2289-2294.

Oppermann H, Marcos-Graneda A, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Keuchler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tumer Z, Platzer K. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology, Eur J Hum Genet, 2023, 31(11):1251-1260.

Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PRO, Riggs ER, Constantino JN, Brain Gene Registry Consortium. Clinical variants paired with phenotype: A rich resources for brain gene curation, Genet Med, 2023, Dec 4:101035.

2022

Sadler B, Minard C, Haller G, Gurnett CA, O’Brien SH, Wheeler AP, Jain S, Sharma M, Zia A, Kulkarni R, Mullins ES, Ragni MV, Sidonio RF, Dietrich JE, Kouides P, Di Paola J, Srivaths LV. Whole exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations, Blood Adv, 2022, 6(2):420-428.

Miceli F, Guerrini R, Nappi M, Soldovieri MV, Cellini E, Gurnett CA, Parmeggiani L, Mei D, Taglialatela M. Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants, Epilepsia, 2021, Nov 14.

Sherby MR, Kalb LG, Coller RJ, DeMuri GP, Butteris S, Foxe JJ, Zand MS, Freedman EG, Dewhurst S, Newland JG, Gurnett CA. Supporting COVID-19 school safety for children with disabilities and medical complexity, Pediatrics, 2022, 480(2):421-430.

Rockwell NC, Yang W, Warrington NM, Staller MV, Griffith M, Griffith OL, Gurnett CA, Cohen BA, Baldridge D, Rubin JB. Sex- and mutation-specific p53 gain-of-function activity in gliomagenesis, Cancer Res Commun, 2021, 1(3): 148-163.

Vazquez M, Chovanec J, Kim J, DiMaggio T, Milner JD, Francomano CA, Gurnett CA, Ritelli M, Colombi M, Lyons JJ. Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenical hypermobility disorders, Hum Genet and Genomics Adv, 2022, 3(2):100094.

Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger A, Rowell W, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN.  Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing, Am J Med Genet, 2022, 188(7):2071-2081.

Tayebi M, Charng WL, Dickson PI, Dobbs MB, Gurnett CA. Diagnostic yield of exome sequencing in congenital vertical talus. Eur J Med Genet, 2022, 65(6):104514.

McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN. A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2 directed myogenesis, JCI Insight, 2022, May 17, e152466.

Wiley B, Parsons TM, Burkart S, Young AL, Erlandson KM, Tassiopoulos KK, Wu K, Gurnett C, Presti RM, Bolton KL, Challen GA. Effect of clonal hematopoiesis on cardiovascular disease in people living with HIV, Exp Hematol, 2022, 114:18-21.

Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers, SR, James ER, Guo J, Jenkins TG, Riera-Esacmilla A, Barros A, Carvalho F, Fernandes S, Goncalves J, Gurnett CA, Jorgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pitatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O’Bryan MK, Schlegel PN, Tuttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Diverse monogenic subforms of human spermatogenic failure, Nat Comm, 2022, 13(1): 7953.

Chung C, Yang X, Bae T, Vong K, Mittal S, Donkels C, Phillips HW, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanlwy V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrinin R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Gleeson JG. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development, Nat Genet, 2022, 55(2):209-220.

2021

Khanshour AM, Kidane Y, Kozlitina J, Cornelia R, Rafipay A, De Mello V, Weston M, Paria N, Khalid A, Hecht JT, Dobbs MB, Richards BS, Vargesson N, Hamra FK, Wilson M, Wise C, Gurnett CA, Rios JJ. Genetic association and characterization of FSTL5 in isolated clubfoot, Hum Mol Genet, 2021, 29(22):3717-3728.

Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Burnetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari 1 malformation, Am J Hum Genet, 2021, 108(1):100-114.

Sherby MR, Walsh T, Lai AM, Neidich JA, Balls-Berry JE, Morris SM, Head R, Prener C, Newland JG, Gurnett, CA and the Compass-T Study Group. SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities, J Neurodev Disorders, 2021 Sep 1; 13(1):31.

Quiggle A, Charng WL, Antunes L, Nikolov M, Bledsoe X, Hecht JT, Dobbs MB, Gurnett CA. Whole exome sequencing in individuals with idiopathic clubfoot reveals a recurrent filamin B (FLNB) deletion, Clin Orthop Relat Res, 2022, 480(2):421-430.

Marrus N, Turner TN, Forsen E, Bolster D, Marvin A, Whitehouse A, Klinger L, Gurnett CA, Constantino JN, Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk, J Neurodev Disord, 2021, Sept 16; 13(1): 39.

2020

Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington AN, Hunter RD, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. Comprehensive in vivo interrogation reveals phenotypic impact of human enhancer variants, Cell,  2020: 180(6):1262-1271.

Haller G, Sadler B, Kuensting T, Lakshman N, Greenberg JK, Strahle JM, Park TS, Dobbs MB, Gurnett CA, Limbrick DD. Obex position is associated with syringomyelia and use of posterior fossa decompression among patients with Chiari I malformation. J Neurosurg Pediatr, 2020: Apr 10:1-8.

Surface LE, Burrow DT, Li J, Park J, Kumar S, Lyu C, Song N, Yu Z, Rajagopal A, Bae Y, Lee BH, Mumm S, Gu CC, Baker JC, Mohseni M, Sum M, Huskey M, Duan S, Bijanki VN, Civitelli R, Gardner MJ, McAndrew CM, Ricci WM, Gurnett CA, Diemer K, Wan F, Costantino CL, Shannon KM, Raje N, Dodson TB, Haber DA, Carette JE, Varadarajan M, Brummelkamp TR, Birsoy K, Sabatini DM, Haller G, Peterson TR. ATRAID regulates the action of nitrogen-containing bisphosphonates on bone. Sci Transl Med, 2020:12(544).

Sadler B, Kuensting T, Strahle J, Park TS, Smyth M, Limbrick DD, Dobbs MB, Haller G, Gurnett CA. Prevalence and impact of underlying diagnosis and comorbidities on Chiari I malformation. Pediatr Neurol. 2020: M106:32-37.

Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA. Rare and de novo duplications containing SHOX in clubfoot, J Med Genet, 2020, 57(12):851-57.

Vijayalingam S, Ezekiel UR, Xu F, Subramaniaan T, Geerling E, Hoelscher B, San K, Ganapathy A, Pemberton K, Tycksen E, Pinto AK, Brien JD, Beck DB, Chung WK, Gurnett CA, Chinnadurai G. Human iPSC-derived neuronal cells from CTBP1-mutated patients reveal altered expression of neurodevelopmental gene networks, Front Neurosci, 2020 Oct 27; 14:562292.

Whittle J, Antunes L, Harris M, Upshaw Z, Sepich DS, Johnson AN, Mokalled M, Solnica-Krezel L, Dobbs MB, Gurnett CA. MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin, EMBO Mol Med, 2020, 6; 12(11):e12356.

Terhune EA, Cuevas MT, Monley AM, Wethey CI, Chen X, Cattel MV, Bayrak MN, Bland MR, Sutphin B, Devon Trahan G, Taylor MRG, Niswander LA, Jones KL, Baschal EE, Antunes, L, Dobbs M, Gurnett C, Appel B, Gray R, Miller NH. Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish, Hum Mutat, 2020, 42(4):392-407.

2019

Sadler B, Gurnett CA, Dobbs MB. The genetics of isolated and syndromic clubfoot, J Child Orthop, 2019: 13(3):238-244.

Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende JA, Giampietro P, Raggio C, Hadley-Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA.  Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis, J Med Genet, 2019: 56(7):427-433.

Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng X, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. MET mutation causes muscular dysplasia and arthrogryposis, EMBO Mol Med, 2019: 11(3):e9709.

2018

Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver B, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT, Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability, J Med Genet, 2018: 55(8): 561-566.

Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA3 variants, Am J Med Genet A, 2018: 176(8):1748-1752.

Haller G, McCall K, Jenkikasemwong S, Nikolov M, Whittle J, Upshaw Z, Baschal E, Shin J, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise CA, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA.  A missense variant in SLC39A8 is associated with severe idiopathic scoliosis, Nat Comm, 2018: 9(1):4171.

Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis loci, Hum Mol Genet, 2018: 27(22):3986-3998.

Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS. Mutations in kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development, PLoS Genet, 2018: 14(11):e1007817. 

2017

Dobbs MB, Frick SL, Mosca VS, Raney E, VanBosse JH, Lerman JA, Talwalkar VR, Steger-May K, Gurnett CA. Design and descriptive data of the prospective randomized controlled clubfoot foot abduction brace length of treatment study (FAB24), J Ped Orthop B, 2017: 26(2):101-107.

Haller G, Zabriskie H, Spehar S, Kuensting T, Bledsoe X, Syed A, Gurnett CA, Dobbs MB. Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis, J Ped Orthop B, 2017: 27(2):152-158.

Rudnick SB, Zabriskie H, Ho J, Gurnett CA, Dobbs MB, Scoliosis severity does not impact the risk of scoliosis in family members, J Pediatr Orthop B, 2017: 27(2):147-151.

2016

Haller G, Alvarado D, McCall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis, Hum Mol Genet, 2016: 25(1): 202-9.

Haller G, Alvarado D, McCall K, Mitra RD, Dobbs MB, Gurnett CA. Massively parallel single-nucleotide mutagenesis using reversibly terminated inosines, Nat Methods, 2016: 13(11):923-924.

Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA. Deletions of 5' HOXC genes are associated with lower extremity malformations including congenital vertical talus,  J Med Genet, 2016: 53(4):250-5.

2015

Londono D, Kou I, Johnston TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA. A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups, J Med Genet, 2015: 51 (6):401-6.

Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. De novo mutations in SIK1 cause a spectrum of developmental epilepsies, Am J Hum Genet, 2015: 96 (4):682-90.

Haller GE, Alvarado DM, Willing MC, Bridwell KH, Kelly M, Luhmann SJ, Lenke LG, Gurnett CA, Dobbs MB. Genetic risk for aortic aneurysm in adolescent idiopathic scoliosis, J Bone Joint Surg Am, 2015: 97(17):1411-7.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.  Identification of medically actionable secondary findings in the 1000 genomes, PLoS One, 2015: 10(9):e0135193.

Ackermann MA, Ward CW, Gurnett C, Kontragianni-Konstantopoulos A. Myosin binding protein-C slow phosphorylation is altered in Duchenne Dystrophy and arthrogryposis myopathy in fast-twitch skeletal muscles, Sci Rep, 2015: 19;5:13235.

2014

Kasasbeh AS, Gurnett CA, Smyth MD. Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature, Childs Nerv Syst, 2014: 30(3):497-503.

Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA. Multiplexed direct genomic selection (MDiGS): A pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection, Nucleic Acids Res, 2014: 42(10):e82.

Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH, Richards S, Rice JP, Dobbs MB, Gurnett CA.  Genome-wide association study identifies new disease loci for isolated clubfoot, J Med Genet, 2014: 51(5):334-9.

Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA. Are copy number variants associated with adolescent idiopathic scoliosis?, Clin Orthop Relat Res, 2014: 472(10):3216-25.

Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB. Soft-tissue abnormalities associated with treatment resistant and treatment-responsive clubfoot: findings of MRI analysis, J Bone Joint Surg Am, 2014: 96(14):1249-1256.

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang, N, Lam T, Ng BK, Cheng JC, Dobbs MB, Gurnett CA. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis, Hum Mol Genet, 2014: 23(19):5271-82.

Buchan JG, Gray RS, Gansner JM, Alvarado DM, Burgert L, Gitlin JD, Gurnett CA, Goldsmith MI. Kinesin family member 6 (kif6) is necessary for spine development in zebrafish, Dev Dyn, 2014: 243(12):1646-57.

Baschal EE, Wethey CI, Swindle K, Baschal RM, Gowan K, Tang NL, Alvarado DM, Haller GE, Dobbs MB, Taylor MR, Gurnett CA, Jones KL, Miller NH. Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis, G3, 2014: 5(2):167-74.

2013

Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR.  BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma, Acta Neuropathol, 2013: 125(6):901-10.

Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis, Hum Mol Genet, 2013: 22(24):4967-77.

Vanoye CG, Gurnett CA, Holland KD, George AL, Kearney JA. Novel SCN3A variants associated with focal epilepsy in children, Neurobiol Dis, 2013: 62:313-322.

2012

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohamed S, Muller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock A, Szepetowski P, Fu YH, Ptacek LJ. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions, Cell Rep, 2012:1:2-12.

Vydyanath A, Gurnett CA, Marston S, Luther PK. Axial distribution of myosin binding protein C is unaffected by mutations in human and cardiac skeletal muscle, J Muscle Res Cell Motil, 2012: 33(1):61-74.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development, Eur J Hum Genet, 2012: 21(4):373-80.

Kruse LM, Buchan JG, Gurnett CA, Dobbs MB.  Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect, J Bone Joint Surg Am, 2012: 94(16):1485-91.

Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR, Copy number variation analysis implicates the cell polarity gene glyipcan 5 as a human spina bifida candidate gene, Hum Mol Genet, 2012: 22(6):1097-111.

2011

Merrill LJ, Gurnett CA, Siegel M, Sonavane S, Dobbs MB.  Vascular abnormalities correlate with decreased soft tissue volumes in idiopathic clubfoot, Clin Orthop Relat Res 2011: 469(5): 1442-9.

Sharma S, Gao X, Londono D, Devroy SE, Mauldin KN, Frankel JT, Brandon JM, Zhang D, Li QZ, Dobbs MB, Gurnett CA, Grant SF, Hakonarson H, Dormans S, Herring JA, Gordon D, Wise CA. Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes, Hum Mol Genet 2011: 20(7): 1456-66.

Licis AK, Desruisseau DM, Yamada KA, Duntley SP, Gurnett CA.  Novel genetic findings in an extended family pedigree with sleepwalking, Neurology 2011: 76(1): 49-52.

Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Mutations in prickle orthologs cause seizures in flies, mice, and humans, Am J Hum Genet 2011: 88(2):138-49.

Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1, J Bone Joint Surg Am  2011: 93(11): 1045-50.

Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL, Kearney JA. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility, Proc Natl Acad Sci USA 2011: 108(13): 5443-8.

McGregor TL, Gurnett CA, Dobbs MB, Wise CA, Morcuende JA, Morgan TM, Menon R, Muglia LJ. Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype, BMC Med Genet 2011: 12(1): 92.

Weymouth KS, Blanton SH, Bamshad MH, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT.  Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot, Am J Med Genet A, 2011: 155A(9):2170-9.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function, Eur J Hum Genet 2011: 19(12):1238-45.

Alvarado DM, McCall K, Aferol H, Silva MH, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA. Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, Hum Mol Genet 2011: 20(20):3943-52.

2010

Merrill L, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB. Skeletal muscle abnormalities and genetic factors related to vertical talus. Clin Orthop Relat Res 2010: 469(4): 1167-74.

Shyy W, Wang K, Gurnett CA, Dobbs MB, Miller NH, Wise C, Sheffield VC, Morcuende JA. Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis, J Pediatr Orthop 2010: 30(6): 539-43.

Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler E.  Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepies, PLoS Genetics 2010: 6(5): e1000962.

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.  Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4, Am J Hum Genet 2010: 87(1): 154-160.

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet 2010: 19(7): 1165-73.

2009

Gurnett CA, Alaee F, Bowcock AM, Kruse L, Lenke LG, Bridwell KH, Kukio T, Luhmann SJ, Dobbs MB, Genetic linkage localizes the adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18q, Spine 2009: 34(2): E94-100.

Gurnett CA, Alaee F, Bick J, Gomez-Silvero N, Dobbs MB. Skeletal muscle contractile gene (TNNT3, MYH3, and TPM2) mutations are not found in familial vertical talus and congenital clubfoot, Clin Orthop Relat Res 2009: 467(5): 1195-2000.

Kruse L, Gurnett CA, Hootnick D, Dobbs MB. Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study, Clin Orthop Relat Res 2009: 467(5): 1250-5.

Gerlach DJ, Gurnett CA, Limpaphayom N, Alaee F, Zhang Z, Porter K, Kirchhofer M, Smyth MD, Dobbs MB. Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele, J Bone Joint Surg Am 2009: 91(6): 1350-9.

Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messenger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma, Science 2009: 325(5943): 965.

Singh NA, Pappas C, Dahle EJ, Claes LRF, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White S, Fillous F, Leppert MF. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier or Dravet syndrome, PLOS Genetics 2009: 5(9): e1000649.

Scheuttpelz LG, McDonald S, Whitesell K, Desruisseau D, Grange DK, Gurnett CA, Wilson DB. Pilocytic astrocytoma in a child with Noonan syndrome, Pediatr Blood Cancer 2009: 53(6): 1147-9.

Ester AR, Weymouth KS, Burt A, Wise CA, Scott A, Gurnett CA, Dobbs MB, Blanton SH, Hecht JT. Aletered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A 2009: 149A(12): 2745-52.

Kruse L, Gurnett CA, Hootnick D, Dobbs MB. Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study, Clin Orthop Relat Res 2009: 467(5): 1250-5. 

2008

Dobbs MB, Boehm S, Grange DK, Gurnett CA. Case report: congenital knee dislocation in a patient with Larsen syndrome and a novel filamin B mutation. Clin Orthop Relat Res 2008: 50(7): 498-502.

Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A. Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. Arch Neurol 2008: 65(4): 550-3.

Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB. Impact of congenital talipes equinovarus etiology on treatment outcomes, Dev Med Child Neurol 2008: 50(7): 498-502.

Kruse L, Dobbs MB, Gurnett CA. Polygenic threshold model with gender dimorphism in clubfoot inheritance: The Carter effect, J Bone Joint Surg Am 2008: 90(12): 2688-94.

Bassuk AG, Wallace RW, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti H. A homozygous mutation in human PRICKLE1 causes an autosomal recessive progressive myoclonus-ataxia syndrome, Am J Hum Genet 2008: 83(5): 572-81.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Asymmetric lower limb malformations in individuals with homeobox PITX1 gene mutations, Am J Hum Genet 2008: 83(5): 616-22. 

2007

Gurnett CA, Dobbs MB, Keppel CR, Pincus ER, Jansen, LA, Bowcock AM. Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3, Neurogenetics 2007: 8: 61-63.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly, Am J Med Genet A, 2007: 143: 27-32.

Gurnett CA, Keppel C, Bick J, Bowcock AM, Dobbs MB. Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus. Clin Orthop Relat Res 2007: 462: 27-31.

2006

Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM. HOXD10 M319K mutation in a family with isolated congenital vertical talus, J Ortho Res 2006: 24(3): 448-453.

Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy Res 2006: 71:129-134.

Gurnett CA, Dobbs MB, Nordsieck EJ, Keppel C, Goldfarb CA, Morcuende JA, Bowcock AM. Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3, Am J Med Genet A 2006: 140:1744-1748.

2005

Dobbs MB, Walton T, Gordon JE, Schoenecker PL, Gurnett CA, Flexor digitorum accessorius longus muscle is associated with familial congenital clubfoot, J Ped Ortho 2005: 25(3): 357-9.

Dobbs MB, Gurnett CA, Robarge J, Gordon JE, Morcuende JA, Bowcock  AM. Variable hand and foot abnormalities in family with congential vertical talus and CDMP-1 mutation, J Ortho Res 2005: 23(6): 1490-4.

2004

Dobbs MB, Rudzki JR, Purcell DB, Walton T, Porter KR, Gurnett CA, Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet, J Bone Joint Surg Am 2004: 86-A(1): 220-7.

Gurnett CA, Bodner J, Neil J, Connolly AM, Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy, J Child Neurol 2004: 19(3): 175-82.

2003

Gurnett CA, Landt M, Wong M, Analysis of cerebrospinal fluid glial fibrillary acidic protein after seizures in children, Epilepsia 2003: 44 (11): 1455-1458. 

2001

Dobbs MB, Dietz FR, Gurnett CA, Morcuende JA, Steyers CM, Murray JC, Localization of dominantly inherited isolated triphalangeal thumb to chromosome region 7q36, J Orthop Res 2001: 18(3): 304-4.

Ahern CA, Arikkath J, Vallejo P, Gurnett CA, Powers PA, Campbell KP, Coronado R, Intramembrane charge movements and excitation-contraction coupling expressed by two-domain fragments of the Ca2+ channel, Proc Natl Acad Sci USA 2001: 98(12): 6935-40.

2000

Dobbs MB, Morcuende JA, Gurnett CA, Ponseti IV, Treatment of idiopathic clubfoot: an historical review, Iowa Orthop J 2000: 20:59-64.

Gurnett CA, Atkins DL, Successful use of a biphasic waveform automated external defibrillator in a high risk child, Am J Cardiol 2000: 86(9): 1051-3.

1997

Fahlke C, Knittle T, Gurnett CA, Campbell KP, George AL, Subunit stoichiometry of human muscle chloride channels, J Gen Physiol
1997: 109:93-104.

Gurnett CA, Felix R, Campbell KP, Extracellular interactions of the voltage dependent Ca2+ channel 2 and 1 subunits, J Biol Chem 1997: 272: 18508-18512.

Felix R, Gurnett CA, De Waard M, Campbell KP, Dissection of functional domains of the voltage-dependent Ca2+ channel alpha2delta subunit, J Neurosci 1997: 17(18): 6884-91.

1996

Gurnett CA, De Waard M, Campbell KP, Dual function of the Ca2+ channel alpha2delta subunit in current stimulation and subunit interactions, Neuron 1996: 16: 43-440.

Scott VES, De Waard M, Liu H, Gurnett CA, Vezke DP, Lennon VA, and Campbell KP, Beta subunit heterogeneity in N-type Ca2+ channels, J Biol Chem 1996: 271: 3207-3212.

Liu H, De Waard M, Scott VES, Gurnett CA, Lennon VA, Campbell KP, Identification of three subunits of the high affinity w-conotoxin MVIIC sensitive Ca2+ channels, J Biol Chem 1996: 271: 1308-1310.

Liu H, Felix R, Gurnett CA, Witcher WR,Campbell KP, Expression and subunit interaction of voltage-dependent Ca2+ channels in PC12 cells, J Neurosci 1996: 16(23): 7557-7565.

Gurnett CA, Campbell KP, Transmembrane auxiliary subunits of voltage dependent ion channels, J Biol Chem 1996: 271:27975-27978.

De Waard M, Liu H, Walker D, Scott VES, Gurnett CA, Campbell KP, Direct binding of G protein complex to voltage-dependent Ca2+ channels, Nature 1996: 385:446-450.

1995

Gurnett CA, Kahl SD, Anderson RD, Campbell KP, Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice, J Biol Chem 1995: 270: 9035-9038.

1993

Gurnett  CA, Whiteis CA, Pardini BJ, Schmid PG, Norepinephrine release from guinea pig cardiac sympathetic nerves is sensitive to ryanodine under physiological conditions, Brain Res 1993: 612 (1-2) :238-242.

1988

Scott VES, Gurnett CA, Campbell KP, Overlay and bead assay.  Determination of calcium channel subunit interaction domains, Methods Mol Biol 1988: 88:71-85.

2025

Gurnett CA. Department of Genetics 75th Anniversary Symposium, “What chromosomal microarrays taught us about birth defects and manatees,” Washington University in St Louis, April 24, 2025.

2024

Gurnett CA. Children’s Hospital of Philadelphia Grand Rounds, “Leveraging Artificial Intelligence for Rare Disease Research,” Philadelphia, PA, October 17, 2024.

Gurnett CA. IDDRC Directors’ Meeting, “Automated extraction of functional measures from IDDRC Brain Gene Registry data using large language models,” October 10, 2024.

Gurnett CA. Global Genes Rare Advocacy Summit, “My genetic test says VUS: What’s next?”, Kansas City, MO, Sept 26, 2024.

Gurnett CA. 2024 RADx-UP Return to School (R2S) Scientific Meeting, “Communicating with parents at schools for children with disabilities during a pandemic,” Sept 10, 2024. (virtual)

Gurnett CA. GLUT1 Deficiency Summit, “High throughput functional testing of variants,” Dallas, TX, June 27, 2024.

Gurnett CA. Johns Hopkins Institutional Review Board Retreat, “Return of Genomic Test Results—what should the IRB’s approach be,” June 6, 2024. (virtual)

Gurnett CA. Nemours Neurology Grand Rounds, “Solving the variant of uncertain significance problem,” Nemours Children’s Health, April 24, 2024. (virtual)

Gurnett CA. Terry R. Dolan Memorial Lecture, “The Brain Gene Registry, An IDDRC Resource for Rare Disease Research,” University of Wisconsin, February 23, 2024. Harvard University/Boston Children’s Hospital Grand Rounds, “The Brain Gene Registry: An IDDRC Resource for Inclusive Rare Disease Research,” Children’s National Medical Center, Washington D.C., January 31, 2024.

Gurnett CA. DC-IDDRC Seminar Series, “The Brain Gene Registry: An IDDRC Resource for Rare Disease Research,” Children’s National Medical Center, Washington D.C., January 25, 2024.

2023

Gurnett CA. Psychiatry Grand Rounds, “The Brain Gene Registry: An IDDRC Resource for Rare Disease Research,” Washington University in St Louis, Nov 17, 2023.

Gurnett CA. IDDRC Directors’ Meeting, “The Brain Gene Registry: An IDDRC Resource for Rare Disease Research,” Children’s National Medical Center, Washington D.C., Nov 17, 2023.

Gurnett CA. A. Ernest and Jane G. Stein Professorship Installation, “Genetic testing conundrums and the $2.1 million dollar gene therapy,” Eric P Newman Education Center, Washington University in St Louis, June 6, 2023.

Gurnett CA. Biology Seminar, “Genetic testing conundrums and the $2.1 million dollar gene therapy”, Coe College, April 4, 2023.

Gurnett CA. RADx-UP National Conference, “Communication strategies to increase SARS-Cov-2 testing uptake in schools for children with intellectual and developmental disabilities were hindered by local pandemic conditions”, virtual presentation, March 16, 2023.

2025

Gurnett CA, Cooper M. ICTS Precision Health Facilitates Healing. Mo Med, 2025, Jan-Feb; 122(1):33.

2021

Whittle J, Johnson A, Dobbs MB, Gurnett CA. Models of distal arthrogryposis and lethal congenital contracture syndrome. Genes 2021, 12(6):943.

Tang NLS, Dobbs MB, Gurnett CA, Qui Y, Lam TP, Cheng JCY, Hadley-Miller N. A decade in review after idiopathic scoliosis was first called a complex trait-a tribute to the late Dr. Yves Cotrel for his support in studies of etiology of scoliosis. Genes 2021, 12(7):1033.

2020

Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L. The cartilage matrisome in adolescent idiopathic scoliosis. Bone Res. 2020 Mar 9;8:13.

2019

Sadler B, Gurnett CA, Dobbs MB. The genetics of isolated and syndromic clubfoot, J Child Orthop, 2019, 13(3):238-244.

2017

Dobbs MB, Gurnett CA. The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research, Clin Orthop Relat Res, 2017, 475(6):1716-1725.

Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA. Summary of the first inaugural joint meeting of the International Consortium for Scoliosis Genetics and the International Consortium for Vertebral Anomalies and Scoliosis, March 16-18, 2017, Dallas Texas, Am J Med Genet, 2017.

2016

Gurnett CA, Dobbs MB. PITX1 associated congenital lower limb malformations, Epstein’s Inb`orn Errors of Development: the molecular basis of clinical disorders of morphogenesis, (Ian Krantz, Han Brunner, Julie Korenberg, editors), Oxford University Press, 2016.

2015

Cheng JC, Castelein RM, Chu WC, Danielsson AJ, Dobbs MB, Grivas TB, Gurnett CA, Luk KD, Moreau A, Newton PO, Stokes IA, Weinstein SL, Burwell RG. Adolescent idiopathic scoliosis, 2015, Nat Rev Dis Primers, Sep 24;1:15030.

2012

Gurnett CA, Dobbs MB. Genetics of clubfoot, J Ped Orthop 2012, 21(1):7-9.

2009

Dobbs MB, Gurnett CA. Update on clubfoot: etiology and treatment, Clin Orthop Relat Res 2009, 467(5): 1146-53.

2007

Gurnett CA, Hedera P. New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation, Arch Neurol 2007; 64(3): 324-8.

2003

Gurnett CA and Gutmann DH. Neuro-oncology: The Neurofibromatoses in The Molecular and Genetic Basis of Neurological and Psychiatric Disease, Third Edition, (Roger Rosenberg, editor), Mass: Butterworth Heinemann, 2003.

1996

De Waard M, Gurnett CA, and Campbell, KP. Structural and functional diversity of voltage-dependent Ca2+ channels, Ion Channels, 1996; 4:41-87.