Human Genetics

Publications

Angelozzi, M; Karvande, A; Molin, AN; Ritter, AL; Leonard, JM M; Savatt, JM; Douglass, K; Myers, SM; Grippa, M; Tolchin, D; et al. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Journal of medical genetics. 2022; 59:1058-1068.

Baker, EK; Solivio, B; Pode-Shakked, B; Cross, LA; Sullivan, B; Raas-Rothschild, A; Chorin, O; Barel, O; Bar-Yosef, O; Husami, A; et al. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American Journal of Medical Genetics, Part A. 2022; 188:3262-3277.

Baker, EK; Ulm, EA; Belonis, A; Brightman, DS; Hallinan, BE; Leslie, ND; Miethke, AG; Vawter-Lee, M; Wu, Y; Pena, LD M. Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Frontiers in Genetics. 2022; 13:887698.

Becker, WR; Nevins, SA; Chen, DC; Chiu, R; Horning, AM; Guha, TK; Laquindanum, R; Mills, M; Chaib, H; Ladabaum, U; et al. Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer. Nature Genetics. 2022; 54:985-995.

Biagini, JM; Kroner, JW; Baatyrbek kyzy, A; Gonzales, A; He, H; Stevens, M; Grashel, B; Spagna, D; Paul, S; Patel, R; et al. Longitudinal atopic dermatitis endotypes: An atopic march paradigm that includes Black children. Journal of Allergy and Clinical Immunology. 2022; 149:1702-1710.e4.

Blumling, AA; Prows, CA; Harr, MH; Chung, WK; Clayton, EW; Holm, IA; Wiesner, GL; Connolly, JJ; Harley, JB; Hakonarson, H; et al. Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. Journal of Personalized Medicine. 2022; 12:1910.

Bopp, EA; Poweleit, EA; Cox, MO; Farrow, JE; Strawn, JR; Patino Duran, LR; Prows, CA; DelBello, MP; Ramsey, LB. A retrospective examination of adjunctive L-methylfolate in children and adolescents with unipolar depression. Journal of Affective Disorders. 2022; 312:315-321.

Bowling, KM; Thompson, ML; Kelly, MA; Scollon, S; Slavotinek, AM; Powell, BC; Kirmse, BM; Hendon, LG; Brothers, KB; Korf, BR; et al. Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. Genome Medicine: medicine in the post-genomic era. 2022; 14:131.

Brewer, C; Sund, K; Wang, X; Liu, J; Guan, Q; Zhang, W; Dawson, B; Wu, Y. 58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events. Cancer genetics. 2022; 268:19.

Bull, MJ; Trotter, T; Santoro, SL; Christensen, C; Grout, RW; COUNCIL ON GENETICS, ; Burke, LW; Berry, SA; Geleske, TA; Holm, I; et al. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022; 149:e2022057010.

Byrne, BJ; Colan, SD; Kishnani, PS; Foster, MC; Sparks, SE; Gibson, JB; An Haack, K; Stockton, DW; Peña, LD M; Hahn, SH; et al. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiology in the Young. 2022; 32:364-373.

Chen, F; Ni, C; Wang, X; Cheng, R; Pan, C; Wang, Y; Liang, J; Zhang, J; Cheng, J; Chin, YE; et al. S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome. EMBO Molecular Medicine. 2022; 14:e14904.

Chen, J; Navais, PS; Xu, H; Flatley, C; Bacelis, J; Monangi, N; Kacerovsky, M; Hallman, M; Teramo, K; Lawlor, D; et al. Interrogating the causal effects of maternal circulating CRP on gestational duration and birth weight. 2022; 2022.05.16.22275164.

Chenbhanich, J; Slavotinek, A; Tam, A. Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. American Journal of Medical Genetics, Part A. 2022; 188:1997-2004.

Collins, MH; Alexander, ES; Martin, LJ; Grotjan, TM; Mukkada, VA; Sheil, A; Abonia, JP; Putnam, PE; Rothenberg, ME. Acquired Esophageal Strictures in Children: Morphometric and Immunohistochemical Analyses. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2022; 25:124-133.

Collyer, J; Xu, F; Munkhsaikhan, U; Alberson, NF; Orgil, BO; Zhang, W; Czosek, RJ; Lu, L; Jefferies, JL; Towbin, JA; et al. Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction. International Journal of Cardiology. 2022; 347:29-37.

Cortezzo, DM E; Tolusso, LK; Swarr, DT. Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18. The Journal of Pediatrics. 2022; 247:116-123.e5.

Crossen, K; Berry, L; Myers, MF; Leslie, N; Goueli, C. A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening. International Journal of Neonatal Screening. 2022; 8:43.

Dellon, ES; Gonsalves, N; Abonia, JP; Alexander, JA; Arva, NC; Atkins, D; Attwood, SE; Auth, MK H; Bailey, DD; Biederman, L; et al. International Consensus Recommendations for Eosinophilic Gastrointestinal Disease Nomenclature. Clinical Gastroenterology and Hepatology. 2022; 20:2474-2484.e3.

DeVore, SB; Stevens, ML; He, H; Biagini, JM; Kroner, JW; Martin, LJ; Khurana Hershey, GK. Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis. Journal of Allergy and Clinical Immunology. 2022; 149:708-717.

Di Donato, N; Guerrini, R; Billington, CJ; Barkovich, AJ; Dinkel, P; Freri, E; Heide, M; Gershon, ES; Gertler, TS; Hopkin, RJ; et al. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain: a journal of neurology. 2022; 145:3274-3287.

Dias, KR; Carlston, CM; Blok, LE R; De Hayr, L; Nawaz, U; Evans, CA; Bayrak-Toydemir, P; Htun, S; Zhu, Y; Ma, A; et al. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine. 2022; 24:1952-1966.

Dimachkie, MM; Barohn, RJ; Byrne, B; Goker-Alpan, O; Kishnani, PS; Ladha, S; Laforêt, P; Mengel, KE; Peña, LD M; Sacconi, S; et al. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Neurology. 2022; 99:e536-e548.

Douzgou, S; Dell’Oro, J; Fonseca, CR; Rei, A; Mullins, J; Jusiewicz, I; Huisman, S; Simpson, BN; Vyshka, K; Milani, D; et al. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. European Journal of Human Genetics. 2022; 30:841-847.

Du, X; Glass, JE; Balow, S; Dyer, LM; Rathbun, PA; Guan, Q; Liu, J; Wu, Y; Dawson, DB; Walters-Sen, L; et al. Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of Autism and Developmental Disorders. 2022; 52:4828-4842.

Duong, T; Kishnani, PS; An Haack, K; Foster, MC; Gibson, JB; Wilson, C; Hahn, SH; Hillman, R; Kronn, D; Leslie, ND; et al. Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Journal of Neuromuscular Diseases. 2022; 9:713-730.

Edwards, A; Teusink-Cross, A; Martin, LJ; Prows, CA; Mehta, PA; Ramsey, LB. Influence of CYP2D6 metabolizer status on ondansetron efficacy in pediatric patients undergoing hematopoietic stem cell transplantation: A case series. Clinical and Translational Science. 2022; 15:610-618.

Elfarawi, H; Tolusso, L; McGowan, ML; Cortezzo, DM; Vawter-Lee, M. Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication. Prenatal Diagnosis. 2022; 42:617-627.

Fabelo, C; He, H; Lim, FY; Atzinger, C; Wong, B. Factors impacting surgical decision making between prenatal and postnatal repair for myelomeningocele. Prenatal Diagnosis. 2022; 42:27-36.

Fasano, G; Muto, V; Radio, FC; Venditti, M; Mosaddeghzadeh, N; Coppola, S; Paradisi, G; Zara, E; Bazgir, F; Ziegler, A; et al. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nature Communications. 2022; 13:6841.

Ferket, BS; Baldwin, Z; Murali, P; Pai, A; Mittendorf, KF; Russell, HV; Chen, F; Lynch, FL; Lich, KH; Hindorff, LA; et al. Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. Genetics in Medicine. 2022; 24:2014-2027.

Filuta, A; Amezcua, PK; Chang, W; Biagini, J; Kroner, J; He, H; Grashel, B; Almasri, C; Martin, L; Palumbo, JS; et al. LB1033 Thrombin contributes to atopic dermatitis pathogenesis and staphylococcus aureus skin colonization in children. Journal of Investigative Dermatology. 2022; 142:b36.

Flunkert, S; Hutter-Paier, B; Sun, Y; Kehr, J. Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches. Frontiers in Molecular Neuroscience. 2022; 15:1078804.

Fu, H; Zheng, H; Chen, X; Weirauch, M; Muglia, L; Wang, L; Liu, Y. NOMe-HiC: joint profiling of genetic variants, DNA methylation, chromatin accessibility, and 3D genome in the same DNA molecule. 2022; 2022.03.29.486102.

Galarreta, CI; Kennedy, C; Blair, DR; Slavotinek, A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. American Journal of Medical Genetics, Part A. 2022; 188:2724-2731.

Gangaram, B; Devine, WP; Slavotinek, A. Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review. European Journal of Medical Genetics. 2022; 65:104496.

Griffiths, M; Yang, J; Vaidya, D; Nies, M; Brandal, S; Ivy, DD; Hickey, F; Wolter-Warmerdam, K; Austin, ED; Mullen, M; et al. Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension. The Journal of Pediatrics. 2022; 241:68-76.e3.

Guilbert, TW; Biagini, JM; Ramsey, RR; Keidel, K; Curtsinger, K; Kroner, JW; Durrani, SR; Stevens, M; Pilipenko, V; Martin, LJ; et al. Treatment by biomarker-informed endotype vs guideline care in children with difficult-to-treat asthma. Annals of Allergy, Asthma, and Immunology. 2022; 128:535-543.e6.

Hagen, L; Bailey, L; Kisanuki, YY; Prada, C. Novel neurological findings in an adult patient with Gaucher disease. Molecular Genetics and Metabolism. 2022; 135:s52.

Hagen, L; Khattar, D; Whitehead, K; He, H; Swarr, DT; Suhrie, K. Detection and impact of genetic disease in a level IV neonatal intensive care unit. Journal of Perinatology. 2022; 42:580-588.

Haley, JE; Woodly, SA; Daniels, SR; Falkner, B; Ferguson, MA; Flynn, JT; Hanevold, CD; Hooper, SR; Ingelfinger, JR; Khoury, PR; et al. Association of Blood Pressure-Related Increase in Vascular Stiffness on Other Measures of Target Organ Damage in Youth. Hypertension. 2022; 79:2042-2050.

Hancock, B; Miller, EM; Parrott, A; Weaver, KN; Tretter, JT; Pilipenko, V; Shikany, AR. Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study. Journal of Genetic Counseling. 2022; 31:965-975.

Harbaum, L; Rhodes, CJ; Wharton, J; Lawrie, A; Karnes, JH; Desai, AA; Nichols, WC; Humbert, M; Montani, D; Girerd, B; et al. Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2022; 205:1449-1460.

Haskell, MJ; Maleta, K; Arnold, CD; Jorgensen, JM; Fan, YM; Ashorn, U; Matchado, A; Monangi, NK; Zhang, G; Xu, H; et al. Provision of Small-Quantity Lipid-Based Nutrient Supplements Increases Plasma Selenium Concentration in Pregnant Women in Malawi: A Secondary Outcome of a Randomized Controlled Trial. Current Developments in Nutrition. 2022; 6:nzac013.

Hatton, SL; Pandey, MK. Fat and Protein Combat Triggers Immunological Weapons of Innate and Adaptive Immune Systems to Launch Neuroinflammation in Parkinson's Disease. International Journal of Molecular Sciences. 2022; 23:1089.

Heuerman, AC; Bessett, D; Matheny Antommaria, AH; Tolusso, LK; Smith, N; Norris, AH; McGowan, ML. Experiences of reproductive genetic counselors with abortion regulations in Ohio. Journal of Genetic Counseling. 2022; 31:641-652.

Hiremath, G; Sun, L; Correa, H; Acra, S; Collins, MH; Bonis, P; Arva, NC; Capocelli, KE; Falk, GW; King, E; et al. Development and Validation of Web-Based Tool to Predict Lamina Propria Fibrosis in Eosinophilic Esophagitis. The American Journal of Gastroenterology (Elsevier). 2022; 117:272-279.

Hopkin, R; Kupferman, J; Deegan, PB; Minini, P; Goyeau, H; Maski, M; Lyn, N; DasMahapatra, P; Germain, DP. A study to evaluate the effect of venglustat on neuropathic and abdominal pain in symptomatic adult patients with Fabry disease. Molecular Genetics and Metabolism. 2022; 135:s56-s57.

Hu, X; Baker, EK; Johnson, J; Balow, S; Pena, LD M; Conlin, LK; Guan, Q; Smolarek, TA. Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular Cytogenetics. 2022; 15:10.

Indugula, SR; Ayala, SS; Vetrini, F; Belonis, A; Zhang, W. Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report. Clinical Case Reports. 2022; 10:e05370.

Irving, M; De Bergua, JM; Rogoff, D; Savarirayan, R; Arundel, P; Pierre Salles, J; Leiva-Gea, A; Saraff, V; McDevitt, H; Santos-Simarro, F; et al. RF26 | PMON326 Medical History of Children Enrolled in PROPEL: A Prospective Clinical Assessment Study in Children with Achondroplasia. Journal of the Endocrine Society. 2022; 6:a644.

Jain, VG; Monangi, N; Zhang, G; Muglia, LJ. Genetics, epigenetics, and transcriptomics of preterm birth. American journal of reproductive immunology and microbiology : AJRIM. 2022; 88:e13600.

Johansson, E; Biagini, JM; Martin, LJ; He, H; Kroner, JW; Almasri, C; Velasquez, V; Sonzogni, M; DeVore, SB; Spagna, D; et al. Vitamin D, skin filaggrin, allergic sensitization, and race. Annals of Allergy, Asthma, and Immunology. 2022; 128:399-407.e3.

Khalaf-Nazzal, R; Fasham, J; Inskeep, KA; Blizzard, LE; Leslie, JS; Wakeling, MN; Ubeyratna, N; Mitani, T; Griffith, JL; Baker, W; et al. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. The American Journal of Human Genetics. 2022; 109:2068-2079.

Kortbawi, H; Ames, E; Pritchard, A; Devine, P; van Ziffle, J; Slavotinek, A. Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American Journal of Medical Genetics, Part A. 2022; 188:2479-2484.

Kotsopoulos, J; Lubinski, J; Gronwald, J; Menkiszak, J; McCuaig, J; Metcalfe, K; Foulkes, WD; Neuhausen, SL; Sun, S; Karlan, BY; et al. Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal. Cancer Epidemiology, Biomarkers and Prevention. 2022; 31:1351-1358.

Laboy Cintron, D; Muir, AM; Scott, A; McDonald, M; Monaghan, KG; Santiago-Sim, T; Wentzensen, IM; De Luca, C; Italian Undiagnosed Diseases Network, ; Brancati, F; et al. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Advances. 2022; 3:100072.

Lee, YY; Cal-Kayitmazbatir, S; Francey, LJ; Bahiru, MS; Hayer, KE; Wu, G; Zeller, MJ; Roberts, R; Speers, J; Koshalek, J; et al. duper is a null mutation of Cryptochrome 1 in Syrian hamsters. Proceedings of the National Academy of Sciences of USA. 2022; 119:e2123560119.

Leppig, KA; Kulchak Rahm, A; Appelbaum, P; Aufox, S; Bland, HT; Buchanan, A; Christensen, KD; Chung, WK; Clayton, EW; Crosslin, D; et al. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genetics in Medicine. 2022; 24:1130-1138.

Leppig, KA; Rahm, AK; Appelbaum, P; Aufox, S; Bland, ST; Buchanan, A; Christensen, KD; Chung, WK; Clayton, EW; Crosslin, D; et al. The Reckoning: The Return of Genomic Results to 1444 Participants Across the eMERGE3 Network. Obstetrical and Gynecological Survey. 2022; 77:644-647.

Lillie, N; Prows, CA; McGowan, ML; Blumling, AA; Myers, MF. Experiences of adolescents and their parents after receiving adolescents' genomic screening results. Journal of Genetic Counseling. 2022; 31:608-619.

Liu, Y. At the dawn: cell-free DNA fragmentomics and gene regulation. British Journal of Cancer. 2022; 126:379-390.

Lopes, GS; Lopes, JL; Bielinski, SJ; Armasu, SM; Zhu, Y; Cavanaugh, DC; Moyer, AM; Jacobson, DJ; Wang, L; Jiang, R; et al. Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota. The Pharmacogenomics Journal. 2022; 22:117-123.

Luo, Z; Xia, M; Shi, W; Zhao, C; Wang, J; Xin, D; Dong, X; Xiong, Y; Zhang, F; Berry, K; et al. Human fetal cerebellar cell atlas informs medulloblastoma origin and oncogenesis. Nature. 2022; 612:787-794.

Lynch, JA; Idleburg, MJ; Butsch Kovacic, M; Childers-Buschle, KE; Dufendach, KR; Lipstein, EA; McGowan, ML; Myers, MF; Prows, CA. Developing video education materials for the return of genomic test results to parents and adolescents. PEC Innovation. 2022; 1:100051.

MacDonald, M; Chang, WC; Martin, LJ; Khurana Hershey, GK; Biagini, JM. The Pediatric Asthma Risk Score: More does not mean better. Annals of Allergy, Asthma, and Immunology. 2022; 128:729-730.

Madden, JA; Brothers, KK; Williams, JL; Myers, MF; Leppig, KA; Clayton, EW; Wiesner, GL; Holm, IA. Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Genetics in Medicine. 2022; 24:1297-1305.

Marcogliese, PC; Dutta, D; Ray, SS; Dang, ND P; Zuo, Z; Wang, Y; Lu, D; Fazal, F; Ravenscroft, TA; Chung, H; et al. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 2022; 8:eabl5613.

Martin, LJ; Hill, V; Maples, C; Baker, T; Elshaer, S; Butsch Kovacic, M. Shared Purpose: Leveraging a Community-Academic Partnership to Increase Local Environmental Health Awareness via Community Science. Journal of participatory research methods. 2022; 3:10.35844/001c.38475.

Mehta, RS; Taylor, ZL; Martin, LJ; Rosen, MJ; Ramsey, LB. SLCO1B1 *15 allele is associated with methotrexate-induced nausea in pediatric patients with inflammatory bowel disease. Clinical and Translational Science. 2022; 15:63-69.

Merchant, S; Prows, CA; Yang, F; Ding, L; MacDonald, J; Zhang, X; Sadhasivam, S; Garcia, V; Sturm, P; Chidambaran, V. Association of CYP2D6 genotype predicted phenotypes with oxycodone requirements and side effects in children undergoing surgery. Annals of translational medicine. 2022; 10:1262.

Minatogawa, M; Unzaki, A; Morisaki, H; Syx, D; Sonoda, T; Janecke, AR; Slavotinek, A; Voermans, NC; Lacassie, Y; Mendoza-Londono, R; et al. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics. 2022; 59:865-877.

Modlin, EW; Slavotinek, AM; Darling, TN; Lipkowitz, S; Barr, FG; Munster, PN; Biesecker, LG; Ours, CA. Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. American Journal of Medical Genetics, Part A. 2022; 188:2766-2771.

Muglia, L; Tong, S; Ozanne, S; Benhalima, K. Maternal factors during pregnancy influencing maternal, fetal and childhood outcomes: Meet the Guest Editors. BMC Medicine. 2022; 20:114.

Muglia, LJ; Monangi, N; Hallman, M; Teramo, K; Jacobsson, B; Zhang, G. Preventing Spontaneous Preterm Birth: Insights from Genomics. 2022; 1:108-123.

Murrell, JR; Nesbitt, AM I; Baker, SW; Pechter, KB; Balciuniene, J; Zhao, X; Denenberg, EH; DeChene, ET; Wu, C; Jayaraman, P; et al. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?. The Journal of molecular diagnostics : JMD. 2022; 24:274-286.

Murrison, LB; Ren, X; Preusse, K; He, H; Kroner, J; Chen, X; Jenkins, S; Johansson, E; Biagini, JM; Weirauch, MT; et al. TSLP disease-associated genetic variants combined with airway TSLP expression influence asthma risk. Journal of Allergy and Clinical Immunology. 2022; 149:79-88.

Myers, MF; Bergner, A; Conway, L; Duquette, D; Durst, AL; Yashar, BM; Zhang, X; Campion, MA. A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination. Journal of Genetic Counseling. 2022; 31:302-315.

Namjou, B; Lape, M; Malolepsza, E; DeVore, SB; Weirauch, MT; Dikilitas, O; Jarvik, GP; Kiryluk, K; Kullo, IJ; Liu, C; et al. Multiancestral polygenic risk score for pediatric asthma. Journal of Allergy and Clinical Immunology. 2022; 150:1086-1096.

Neilson, DE; Zech, M; Hufnagel, RB; Slone, J; Wang, X; Homan, S; Gutzwiller, LM; Leslie, EJ; Leslie, ND; Xiao, J; et al. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Movement Disorders. 2022; 37:375-383.

Norstad, M; Outram, S; Brown, JE H; Zamora, AN; Koenig, BA; Risch, N; Norton, ME; Slavotinek, A; Ackerman, SL. The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research. Genetics in Medicine. 2022; 24:410-418.

Okeke, C; Paulding, D; Riedel, A; Paudel, S; Phelan, C; Teng, CS; Barske, L. Control of cranial ectomesenchyme fate by Nr2f nuclear receptors. Development (Cambridge). 2022; 149:dev201133.

Pal, G; Mangone, G; Hill, EJ; Ouyang, B; Liu, Y; Lythe, V; Ehrlich, D; Saunders-Pullman, R; Shanker, V; Bressman, S; et al. Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers. Annals of Neurology. 2022; 91:424-435.

Pandey, M; Magnusen, AF; Trivedi, V; Hatton, S; Rani, R; Nyamajenjere, TC; Magnusen, D; McKay, MA; Woods, C; DiPasquale, BA; et al. Acid β-glucosidase insufficiency activates the C-X-C Motif Chemokine Ligand 9/CXCR3 axis leading to T cell mediated inflammation in Gaucher disease. 2022; 208:166.01.

Pandey, MK. The Role of Alpha-Synuclein Autoantibodies in the Induction of Brain Inflammation and Neurodegeneration in Aged Humans. Frontiers in Aging Neuroscience. 2022; 14:902191.

Pandey, MK. Pre-existing humoral immune comebacks control the development of the severe form of coronavirus disease 2019 in Gaucher patients. Clinical and Translational Discovery. 2022; 2:e96.

Pandey, MK; Magnusen, AF; Trivedi, VS; Hatton, SL; Rani, R; Nyamajenjere, TC; Magnusen, DN A; McKay, MA; Woods, C; DiPasquale, BA; et al. Acid β-glucosidase insufficiency activates the C-X-C Motif Chemokine Ligand 9/CXCR3 axis leading to T cell mediated inflammation in Gaucher disease. Journal of immunology (Baltimore, Md. : 1950). 2022; 208:166.01.

Paudel, S; Gjorcheska, S; Bump, P; Barske, L. Patterning of cartilaginous condensations in the developing facial skeleton. Developmental Biology. 2022; 486:44-55.

Penon-Portmann, M; Carlston, CM; Martin, PM; Slavotinek, A. Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. Molecular Syndromology. 2022; 13:337-342.

Perl, E; Ravisankar, P; Beerens, ME; Mulahasanovic, L; Smallwood, K; Sasso, MB; Wenzel, C; Ryan, TD; Komár, M; Bove, KE; et al. Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development. HGG Advances. 2022; 3:100115.

Petito, GT; Housekeeper, J; Buroker, J; Scholle, C; Ervin, B; Frink, C; Greiner, HM; Skoch, J; Mangano, FT; Dye, TJ; et al. Diurnal rhythms of spontaneous intracranial high-frequency oscillations. Seizure-European Journal of Epilepsy. 2022; 102:105-112.

Phillips, KA; Trosman, JR; Douglas, MP; Gelb, BD; Ferket, BS; Hindorff, LA; Slavotinek, AM; Berg, JS; Russell, HV; Devine, B; et al. US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER). Genetics in Medicine. 2022; 24:238-244.

Piening, BD; Dowdell, AK; Zhang, M; Loza, BL; Walls, D; Gao, H; Mohebnasab, M; Li, YR; Elftmann, E; Wei, E; et al. Whole transcriptome profiling of prospective endomyocardial biopsies reveals prognostic and diagnostic signatures of cardiac allograft rejection. Journal of Heart and Lung Transplantation. 2022; 41:840-848.

Powell, AW; Wittekind, SG; Mays, WA; Lang, SM; Knilans, TK; Prada, CE; Hopkin, RJ; Chin, C. Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease. Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital. 2022; 49:e207363.

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