Human Genetics


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.

Price, JJ; Urbina, EM; Carlin, K; Becker, R; Daniels, SR; Falkner, BE; Ferguson, M; Hanevold, C; Hooper, SR; Ingelfinger, JR; et al. Cardiovascular Risk Factors and Target Organ Damage in Adolescents: The SHIP AHOY Study. Pediatrics. 2022; 149:e2021054201.

Rajesh, ; Tanwar, VK; Sharma, V; Vishesh, ; Pandey, MK; Gajjala, S; Agrawal, VV; Singh, AK. Defibrillator Delivered Energy Measurement Study with a Calibration Set Up at Different Trans-Thoracic Impedance. Mapan - Journal of Metrology Society of India. 2022; 37:477-481.

Rego, S; Hoban, H; Outram, S; Zamora, AN; Chen, F; Sahin-Hodoglugil, N; Anguiano, B; Norstad, M; Yip, T; Lianoglou, B; et al. Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach. Genetics in Medicine. 2022; 24:1206-1216.

Riedhammer, KM; Burgemeister, AL; Cantagrel, V; Amiel, J; Siquier-Pernet, K; Boddaert, N; Hertecant, J; Kannouche, PL; Pouvelle, C; Htun, S; et al. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics. 2022; 31:3083-3094.

Riley, JM; Hamparian, CN; Sestito, AP; Duggins, AL; Owens, TL; Witt, RM; Simmons, D; Byars, K; Hogenesch, JB; Dye, TJ; et al. Outcomes of Pre-treatment and Post-treatment measures after therapy for pediatric circadian disorders. Sleep Medicine. 2022; 100:s51-s52.

Riley, JM; Hamparian, CN; Sestito, AP; Duggins, AL; Owens, TL; Witt, RM; Simmons, D; Byars, K; Hogenesch, JB; Dye, TJ; et al. Developing a Multidisciplinary Pediatric Circadian Medicine Clinic: The Circadian and Complex Sleep Disorders Clinic. Sleep Medicine. 2022; 100:s46-s47.

Robinson, JR; Carroll, RJ; Bastarache, L; Chen, Q; Pirruccello, J; Mou, Z; Wei, WQ; Connolly, J; Mentch, F; Crane, PK; et al. Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity. 2022; 30:2477-2488.

Rogoff, D; Bergua, JM D; Savarirayan, R; Arundel, P; Salles, JP; Leiva-Gea, A; Irving, M; Saraff, V; McDevitt, H; Santos-Simarro, F; et al. PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study. Journal of the Endocrine Society. 2022; 6:a632-a633.

Rosselot, AE; Park, M; Kim, M; Matsu-Ura, T; Wu, G; Flores, DE; Subramanian, KR; Lee, S; Sundaram, N; Broda, TR; et al. Ontogeny and function of the circadian clock in intestinal organoids. The EMBO Journal. 2022; 41:e106973.

Safroneeva, E; Pan, Z; King, E; Martin, LJ; Collins, MH; Yang, GY; Capocelli, KE; Arva, NC; Abonia, JP; Atkins, D; et al. Long-Lasting Dissociation of Esophageal Eosinophilia and Symptoms After Dilation in Adults With Eosinophilic Esophagitis. Clinical Gastroenterology and Hepatology. 2022; 20:766-775.e4.

Savarirayan, R; De Bergua, JM; Arundel, P; McDevitt, H; Cormier-Daire, V; Saraff, V; Skae, M; Delgado, B; Leiva-Gea, A; Santos-Simarro, F; et al. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Therapeutic Advances in Musculoskeletal Disease. 2022; 14:1759720X221084848.

Savarirayan, R; Irving, M; Harmatz, P; Delgado, B; Wilcox, WR; Philips, J; Owen, N; Bacino, CA; Tofts, L; Charrow, J; et al. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genetics in Medicine. 2022; 24:2444-2452.

Savarirayan, R; Wilcox, WW; Harmatz, P; III, JP; Polgreen, LE; Tofts, L; Ozono, K; Arundel, P; Irving, M; Bacino, CA; et al. LBMON196 A Randomized Controlled Trial Of Vosoritide In Infants And Toddlers With Achondroplasia. Journal of the Endocrine Society. 2022; 6:a591-a592.

Setty, BA; Wusik, K; Hammill, AM. How we approach genetics in the diagnosis and management of vascular anomalies. Pediatric Blood and Cancer. 2022; 69 Suppl 3:e29320.

Shen, J; Shillington, A; Espay, AJ; Hill, EJ. Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant. Neurology: Genetics. 2022; 8:e200001.

Shibuya, Y; Kumar, KK; Mader, MM D; Yoo, Y; Ayala, LA; Zhou, M; Mohr, MA; Neumayer, G; Kumar, I; Yamamoto, R; et al. Treatment of a genetic brain disease by CNS-wide microglia replacement. Science Translational Medicine. 2022; 14:eabl9945.

Shillington, A; Lamy, M; Dominick, KC; Sorter, M; Erickson, CA; Hopkin, R. A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders. Frontiers in Genetics. 2022; 13:901458.

Shoda, T; Collins, MH; Rochman, M; Wen, T; Caldwell, JM; Mack, LE; Osswald, GA; Besse, JA; Haberman, Y; Aceves, SS; et al. Evaluating Eosinophilic Colitis as a Unique Disease Using Colonic Molecular Profiles: A Multi-Site Study. Gastroenterology. 2022; 162:1635-1649.

Shoda, T; Wen, T; Caldwell, JM; Ben-Baruch Morgenstern, N; Osswald, GA; Rochman, M; Mack, LE; Felton, JM; Abonia, JP; Arva, NC; et al. Loss of Endothelial TSPAN12 Promotes Fibrostenotic Eosinophilic Esophagitis via Endothelial Cell-Fibroblast Crosstalk. Gastroenterology. 2022; 162:439-453.

Simpson, CE; Griffiths, M; Yang, J; Nies, MK; Vaidya, D; Brandal, S; Martin, LJ; Pauciulo, MW; Lutz, KA; Coleman, AW; et al. COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study. ERJ Open Research. 2022; 8:725-2021.

Slavotinek, A; Lefebvre, M; Brehin, AC; Thauvin, C; Patrier, S; Sparks, TN; Norton, M; Yu, J; Huang, E. Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A. European Journal of Medical Genetics. 2022; 65:104407.

Slavotinek, A; Prasad, H; Yip, T; Rego, S; Hoban, H; Kvale, M. Predicting genes from phenotypes using human phenotype ontology (HPO) terms. Human Genetics. 2022; 141:1749-1760.

Sole-Navais, P; Flatley, C; Steinthorsdottir, V; Vaudel, M; Juodakis, J; Chen, J; Laisk, T; LaBella, A; Westergaard, D; Bacelis, J; et al. Genetic effects on the timing of parturition and links to fetal birth weight. 2022; 2022.05.04.22274624.

Sprague, AC; Niu, L; Jandarov, R; Zhang, X; Zhang, G; Chen, A; Šarac, J; Coklo, M; Missoni, S; Rudan, P; et al. Stable methylation loci are associated with systolic blood pressure in a Croatian island population. Epigenomics. 2022; 14:1343-1354.

Staklinski, SJ; Chang, MC; Yu, F; Collins Ruff, K; Franz, DN; Qian, Z; Bloom, LB; Merritt, ME; McKenna, R; Kilberg, MS. Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. The Journal of biological chemistry. 2022; 298:102385.

Swanson, K; Sparks, TN; Lianoglou, BR; Chen, F; Downum, S; Patel, S; Rego, S; Yip, T; Van Ziffle, J; Koenig, BA; et al. Preference for secondary findings in prenatal and pediatric exome sequencing. Prenatal Diagnosis. 2022; 42:753-761.

Toshner, M; Church, C; Harbaum, L; Rhodes, C; Villar Moreschi, SS; Liley, J; Jones, R; Arora, A; Batai, K; Desai, AA; et al. Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2022; 59:2002463.

Treble-Barna, A; Wade, SL; Pilipenko, V; Martin, LJ; Yeates, KO; Taylor, HG; Kurowski, BG. Brain-Derived Neurotrophic Factor Val66Met and Behavioral Adjustment after Early Childhood Traumatic Brain Injury. Journal of Neurotrauma. 2022; 39:114-121.

Trivedi, VS; Magnusen, AF; Rani, R; Marsili, L; Slavotinek, AM; Prows, DR; Hopkin, RJ; McKay, MA; Pandey, MK. Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. International Journal of Molecular Sciences. 2022; 23:14340.

van Woerden, GM; Senden, R; de Konink, C; Trezza, RA; Baban, A; Bassetti, JA; van Bever, Y; Bird, LM; van Bon, BW; Brooks, AS; et al. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation. 2022; 43:1377-1395.

Voulgaridou, A; Elgammal, Y; Husami, A; Emberesh, S; Seu, K; Ramamoorthy, M; Trump, L; Barasa, N; Nelson, AS; Lorsbach, RB; et al. De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts. Blood. 2022; 140:1234-1235.

Ware, SM; Bhatnagar, S; Dexheimer, PJ; Wilkinson, JD; Sridhar, A; Fan, X; Shen, Y; Tariq, M; Schubert, JA; Colan, SD; et al. The genetic architecture of pediatric cardiomyopathy. The American Journal of Human Genetics. 2022; 109:282-298.

Weaver, KN; Care, M; Wakefield, E; Zarate, YA; Skoch, J; Gripp, KW; Prada, CE. Craniosynostosis is a feature of Costello syndrome. American Journal of Medical Genetics, Part A. 2022; 188:1280-1286.

Weaver, KN; Chen, J; Shikany, A; White, PS; Prada, CE; Gelb, BD; Cnota, JF. Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation: Genomic and Precision Medicine. 2022; 15:e003635.

Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al. Robin sequence without cleft palate: Genetic diagnoses and management implications. American Journal of Medical Genetics, Part A. 2022; 188:160-177.

Webster, J; Wiley, S; Schorry, E; Bowers, K; Collins Ruff, K; Riddle, I. Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Journal of Genetic Counseling. 2022; 31:153-163.

Witt, RM; Riley, JM; Hamparian, CN; Owens, TL; Simmons, D; Byars, KC; Hogenesch, JB; Smith, DF; Dye, TJ. Safe and Effective Use of Suvorexant in Children with Neurodevelopmental Disorders: A Single-Center, Retrospective Study of Clinical Practice. Sleep Medicine. 2022; 100:s172-s173.

Witt, RM; Riley, JM; Hamparian, CN; Owens, TL; Simmons, D; Byars, KC; Hogenesch, JB; Smith, DF; Dye, TJ. Suvorexant Is Safe and Effective in a Pediatric Population: A Single-Center, Retrospective Study. Sleep Medicine. 2022; 100:s208.

Wu, G; Ruben, MD; Francey, LJ; Lee, YY; Anafi, RC; Hogenesch, JB. An in silico genome-wide screen for circadian clock strength in human samples. Editor, Mathelier A. Bioinformatics. 2022; 38:5375-5382.

Wynn, J; Milo Rasouly, H; Vasquez-Loarte, T; Saami, AM; Weiss, R; Ziniel, SI; Appelbaum, PS; Wright Clayton, E; Christensen, KD; Fasel, D; et al. Do research participants share genomic screening results with family members?. Journal of Genetic Counseling. 2022; 31:447-458.

Yang, J; Ambade, AS; Nies, M; Griffiths, M; Damico, R; Vaidya, D; Brandal, S; Pauciulo, MW; Lutz, KA; Coleman, AW; et al. Hepatoma-derived growth factor is associated with pulmonary vascular remodeling and PAH disease severity and survival. Pulmonary Circulation. 2022; 12:e12007.

Yang, Z; Shikany, A; Ni, Y; Zhang, G; Weaver, KN; Chen, J. Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients. Genetics in Medicine. 2022; 24:2329-2337.

Yogasundaram, H; Nikhanj, A; Chatur, S; Qi, A; Hagen, L; Bailey, L; Khan, A; Hopkin, RJ; Fine, NM; Jefferies, JL; et al. Burden of Valvular Heart Disease in Patients with Fabry Disease. Journal of the American Society of Echocardiography. 2022; 35:236-238.

Zanobetti, A; Ryan, PH; Coull, B; Brokamp, C; Datta, S; Blossom, J; Lothrop, N; Miller, RL; Beamer, PI; Visness, CM; et al. Childhood Asthma Incidence, Early and Persistent Wheeze, and Neighborhood Socioeconomic Factors in the ECHO/CREW Consortium. JAMA Pediatrics. 2022; 176:759-767.

Zarate, YA; Morris, SA; Blackshare, A; Algaze, CA; Connor, BS; Kim, AJ; Yutzey, KE; Miller, EM; Weaver, KN; Collins, RT. A clinical scoring system for early onset (neonatal) Marfan syndrome. Genetics in Medicine. 2022; 24:1503-1511.

Zhang, T; Du, X; Gu, Y; Dong, Y; Zhang, W; Yuan, Z; Huang, X; Zou, C; Zhou, Y; Liu, Z; et al. Analysis of Diurnal Variations in Heart Rate: Potential Applications for Chronobiology and Cardiovascular Medicine. Frontiers in Physiology. 2022; 13:835198.

Zhao, C; Lancman, JJ; Yang, Y; Gates, KP; Cao, D; Barske, L; Matalonga, J; Pan, X; He, J; Graves, A; et al. Intrahepatic cholangiocyte regeneration from an Fgf-dependent extrahepatic progenitor niche in a zebrafish model of Alagille Syndrome. Hepatology. 2022; 75:567-583.

Zhao, X; Hasan, S; Liou, B; Lin, Y; Sun, Y; Liu, C. Analysis of the Biomarkers for Neurodegenerative Diseases in Aged Progranulin Deficient Mice. International Journal of Molecular Sciences. 2022; 23:629.

Zhou, X; Zheng, H; Fu, H; Dillehay McKillip, KL; Pinney, SM; Liu, Y. CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing. Genome Medicine: medicine in the post-genomic era. 2022; 14:138.

Zoubovsky, SP; Williams, MT; Hoseus, S; Tumukuntala, S; Riesenberg, A; Schulkin, J; Vorhees, CV; Campbell, K; Lim, H; Muglia, LJ. Neurobehavioral abnormalities following prenatal psychosocial stress are differentially modulated by maternal environment. Translational Psychiatry. 2022; 12:22.

Zouk, H; Yu, W; Oza, A; Hawley, M; Vijay Kumar, PK; Koch, C; Mahanta, LM; Harley, JB; Jarvik, GP; Karlson, EW; et al. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. Genetics in Medicine. 2022; 24:454-462.