Slavotinek Lab

Publications

Theobald, K; Shillington, A; Jackson, F; Lopes, J; Brewer, CJ; Dawson, B; Wu, G; Denton, J; Pauciulo, M; Zhang, X; Slavotinek, A. Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery. Clinical Genetics. 2026; 109(4):717-724.

Showpnil, IA; Feinstein-Goren, N; Greenbaum, L; Barel, O; Koboldt, DC; Brugmann, SA; Weaver, KN; Slavotinek, A; Pode-Shakked, B; Stottmann, RW. Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. Clinical Genetics. 2026; 109(4):788-795.

Haanpää, MK; Haldeman-Englert, CR; Hietala, M; Tanverdi, MS; Koty, PP; Brightman, D; Dosunmu, E; Tibrewal, S; Kaur, S; Kaur, A; Verma, RK; De Alba Campomanes, AG; Utz, V; Slavotinek, AM; Curry, C. Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes. American Journal of Medical Genetics, Part A. 2026; 200(3):642-652.

Muto, V; Fasano, G; Radio, FC; Pedalino, C; Carvetta, M; Coppola, S; Zara, E; Petrini, S; Schluth-Bolard, C; Bilbault, C; Hodoglugil, U; Slavotinek, A; Tartaglia, M; Lauri, A. Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations. European Journal of Human Genetics. 2026; 34(3):438-443.

Cavender, C; Atzinger, C; Slavotinek, A. A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions. Orphanet Journal of Rare Diseases. 2026.

Leon Tenorio, AA; Sugio, T; Cheng, J; Bonner, DE; Esfahani, MS; Kasinathan, S; Hsu, JJ; Moyer, A; Pimentel Vera, L; Carter, J; Serrano, TJ; Vasiliou, V; Halstead, W; Jiang, Y. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatology. 2026; 8(2).

Cheng, TL; Al Muhairi, AA; Slavotinek, A; Cariappa, B. International approaches to early identification of rare diseases and precision medicine. Pediatric Research. 2025.

Jo, S; Lee, C; White, L; Shillington, A; Slavotinek, A; Wu, Y. A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry. Clinical Genetics. 2025.

Brightman, D; Shinwari, N; Porollo, A; Dosunmu, EO; Ullah, E; Guan, B; Hufnagel, RB; Brooks, BP; Blain, D; Fuhrmann, S; Simpson, B; Slavotinek, AM. Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases. Clinical Genetics. 2025; 108(5):589-593.

Cooperstein, IB; Marwaha, S; Ward, A; Kobren, SN; Carter, JN; Wheeler, MT; Marth, GT. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Medicine. 2025; 17(1):127.

Buasri, K; Pakhathirathien, P; Sananmuang, T; Dumrongwongsiri, S; Thatrimontrichai, A; Maneenil, G; Khongkraparn, A; Ngiwsara, L; Sawangareetrakul, P; Svasti, J; Slavotinek, A; Wattanasirichaigoon, D. New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review. Journal of Medical Genetics. 2025; 62(11):726-733.

Chang, HR; Bannon, M; Opper, C; Slavotinek, A; Hijazi, G; Widmeyer, KM; Kellner, ES; Iqneibi, M; Bayart, C; Marathe, KS; Bridges, C. Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation. Pediatric Dermatology. 2025.

Swanson, K; Hodoglugil, U; Sparks, TN; Lianoglou, BR; Slavotinek, AM; Norton, ME. Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results. Prenatal Diagnosis. 2025.

Buecking, J; An, Y; Bi, W; Hinderhofer, K; Theiß, S; Slavotinek, A; Schaaf, CP. A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116. American Journal of Medical Genetics, Part A. 2025; 197(8):e64070.

Biesecker, BB; Ackerman, SL; Brothers, KB; East, KM; Foreman, AKM; Hindorff, LA; Horowitz, CR; Jarvik, GP; Knight, SJ; Leo, MC; Suckiel, SA; Veenstra, DL; Zinberg, RE; Hunter, JE. Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results. Genetics in Medicine. 2025; 27(4):101363.

Peron, A; D'arco, F; Aldinger, KA; Smith-Hicks, C; Zweier, C; Gradek, GA; Bradbury, K; Accogli, A; Andersen, EF; Au, PYB; Guillemot, F; Dobyns, WB; Viskochil, D; Dias, C. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. European Journal of Human Genetics. 2025; 33(3):312-324.

Le, T; Htun, S; Pandey, MK; Sun, Y; Magnusen, AF; Ullah, E; Lauzon, J; Beres, S; Lee, C; Guan, B; Hufnagel, RB; Brooks, BP; Baranzini, SE; Slavotinek, A. A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression. Frontiers in Cell and Developmental Biology. 2025; 13:1522094.

Beatty, K; Verma, AD; Moe, M; Htun, S; Scerri, T; Sidhu, A; Ginter, J; Walker, L; Deardorff, M; Do, J; Van De Laar, I; Pauly, M; Vasileiou, G; Morgan, A; Slavotinek, A. P338: Studying the role of the DIP2C gene in humans and zebrafish. Genetics in Medicine Open. 2025; 3:102303.

Garg, R; Zhang, W; Hartmann, JE; Slavotinek, A. Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype. Frontiers in Pediatrics. 2025; 13:1518782.

Theobald, K; Jackson, F; Lopes, J; Shillington, A; Chaib, H; Dawson, B; Kinga-Bakienga, L; Pauciulo, M; Slavotinek, A. P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study. Genetics in Medicine Open. 2025; 3:102227.

Schwan, A; Jackson, F; Karimi, K; Kerkhof, J; Swarr, D; Russell, D; Zhang, X; Balci, T; Sadikovic, B; Slavotinek, A. P331: Establishing episignatures as a diagnostic tool for diabetic embryopathy. Genetics in Medicine Open. 2025; 3:102296.

Ratna, R; Tiwari, A; Ganjoo, S; Budhiraja, A; Brooks, BP; Vanita, V; Slavotinek, A; Tibrewal, S. A rare ocular phenotype associated with oculofaciocardiodental syndrome. Taiwan Journal of Ophthalmology. 2024.

Mitchell, DL; Chambers, TM; Agopian, AJ; Benjamin, RH; Shumate, CJ; Slavotinek, A; Hufnagel, RB; Brooks, BP; Mitchell, LE; Lupo, PJ. Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Research. 2024; 116(11):e2413.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Obstetrical and Gynecological Survey. 2024; 79(11):632-633.

Scollon, S; Robinson, JO; Jo, E; Suckiel, SA; Amendola, LM; Foreman, AKM; Jarvik, GP; Rini, C; Wang, T; Slavotinek, A. Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium. Genetics in Medicine. 2024; 26(9):101176.

Timberlake, AT; Hemal, K; Gustafson, JA; Hao, LT; Valenzuela, I; Slavotinek, A; Cunningham, ML; Kahle, KT; Lifton, RP; Persing, JA. AXIN1 mutations in nonsyndromic craniosynostosis. Journal of Neurosurgery: Pediatrics. 2024; 34(3):246-251.

Slavotinek, AM; Thompson, ML; Martin, LJ; Gelb, BD. Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease. HGG Advances. 2024; 5(3):100286.

Gangaram, B; Lee, V; Slavotinek, A. Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American Journal of Medical Genetics, Part A. 2024; 194(7):e63567.

Ha, T; Morgan, A; Bartos, MN; Beatty, K; Cogné, B; Braun, D; Gerber, CB; Gaspar, H; Kopps, AM; Rieubland, C; Palafoll, MIV; Nawaz, U; Voineagu, I; Slavotinek, A. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American Journal of Medical Genetics, Part A. 2024; 194(7):e63559.

Gregory Feero, W; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Genetics in Medicine. 2024; 26(5):101118.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Journal of the American Medical Association (JAMA). 2024; 331(15):1276-1278.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. HGG Advances. 2024; 5(2):100282.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. American Journal of Human Genetics. 2024; 111(4):621-623.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Nature Genetics. 2024; 56(4):555-556.

Mavura, Y; Sahin-Hodoglugil, N; Hodoglugil, U; Kvale, M; Martin, P-M; Van Ziffle, J; Devine, WP; Ackerman, SL; Koenig, BA; Kwok, P-Y; Norton, ME; Slavotinek, A; Risch, N. Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. npj Genomic Medicine. 2024; 9(1):1.

Li, D; Wang, Q; Bayat, A; Battig, MR; Zhou, Y; Bosch, DG; Van Haaften, G; Granger, L; Petersen, AK; Pérez-Jurado, LA; Zackai, EH; Akizu, N; Song, Y; Hakonarson, H. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. Journal of Clinical Investigation. 2024; 134(1).

Moe, M; Sharma, S; Htun, S; Sun, Y; Baranzini, S; Slavotinek, A. P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon. Genetics in Medicine Open. 2024; 2:101624.

Schwan, A; Jackson, F; Swarr, D; Russell, D; Slavotinek, A. P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy. Genetics in Medicine Open. 2024; 2:101190.

Slavotinek, A. Case 11.12.2 Neurodevelopmental Cases: Delayed Speech, Polydactyly, and Short Stature. In: Genomics in the Clinic. Elsevier; 2024:421-423.

Haldeman-Englert, CR; Slavotinek, AM. Sonic Hedgehog Pathway. In: Nelson Textbook of Pediatrics Volume 1 2. 2024:787-795.e1.

Slavotinek, AM. Dysmorphology, Phenotyping, and Sequences. In: Nelson Textbook of Pediatrics Volume 1 2. 2024:778-787.1.

Haldeman-Englert, CR; Slavotinek, AM. Craniosynostoses. In: Nelson Textbook of Pediatrics Volume 1 2. 2024:787-795.e1.

Haldeman-Englert, CR; Slavotinek, AM. Ciliopathies. In: Nelson Textbook of Pediatrics Volume 1 2. 2024:787-795.e1.

Haldeman-Englert, CR; Slavotinek, AM. RAS/MAPK Pathway. In: Nelson Textbook of Pediatrics Volume 1 2. 2024:787-795.e1.

Cavender, C; Slavotinek, A; Atzinger, C. P395: Hallermann-Streiff syndrome: Characteristic features and diagnostic overlap. Genetics in Medicine Open. 2024; 2:101289.

Stallworth, JY; Blair, DR; Slavotinek, A; Moore, AT; Duncan, JL; De Alba Campomanes, AG. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic Genetics. 2023; 44(5):486-490.

Slavotinek, A. Genetics in Pediatric Practice: From Baby Steps to Running Fast. Pediatric Clinics of North America. 2023; 70(5):885-894.

Slavotinek, A; Simpson, B; Tam, A. Genetics in Pediatric Practice. Pediatric Clinics of North America. 2023; 70(5):xvii-xix.

Marsili, L; Magnusen, AF; Trivedi, VS; Slavotinek, AM; Pandey, MK. Embracing the Science of Motherhood: Pregnancy's Transformative Effects on the Central Nervous System and the Radiance of Maternal Hormones and Immune Responses. DISCOVERY MEDICINE. 2023; 35(178):673-696.

Slavotinek, A; Prasad, H; Outram, S; Scollon, S; Rego, S; Yip, T; Hoban, H; Foreman, KM; Kelley, W; Finnila, C; Berg, J; Murali, P; Bonini, KE; Martin, LJ; Hott, A. Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study. Genetics in Medicine. 2023; 25(9):100899.

Priestley, JRC; Deshwar, AR; Murthy, H; D'agostino, MD; Dupuis, L; Gangaram, B; Gray, C; Jobling, R; Pannia, E; Platzer, K; Dowling, JJ; Mendoza-Londono, R; Slavotinek, A; Bhoj, EJ. Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine. 2023; 25(8):100863.

Smith, HS; Ferket, BS; Gelb, BD; Hindorff, L; Ferar, KD; Norton, ME; Sahin-Hodoglugil, N; Slavotinek, A; Lich, KH; Berg, JS; Russell, HV. Parent-Reported Clinical Utility of Pediatric Genomic Sequencing. Pediatrics. 2023; 152(2).

Brin, MF; Kirby, RS; Slavotinek, A; Adams, AM; Parker, L; Ukah, A; Radulian, L; Elmore, MRP; Yedigarova, L; Yushmanova, I. Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update. Neurology. 2023; 101(2):e103-e113.

Srivastava, P; Tenney, J; Lodish, M; Slavotinek, A; Baskin, L. Utility of genetic work-up for 46, XY patients with severe hypospadias. Journal of Pediatric Urology. 2023; 19(3):261-272.

Slavotinek, A; Rego, S; Sahin-Hodoglugil, N; Kvale, M; Lianoglou, B; Yip, T; Hoban, H; Outram, S; Anguiano, B; Chen, F; Ackerman, S; Risch, N; Kwok, P-Y; Norton, ME. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. npj Genomic Medicine. 2023; 8(1):10.

Smallwood, K; Watt, KEN; Ide, S; Baltrunaite, K; Brunswick, C; Inskeep, K; Capannari, C; Adam, MP; Begtrup, A; Bertola, DR; Maeshima, K; Stottmann, RW; Trainor, PA; Weaver, KN. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. American Journal of Human Genetics. 2023; 110(5):809-825.

Truty, R; Rojahn, S; Ouyang, K; Kautzer, C; Kennemer, M; Pineda-Alvarez, D; Johnson, B; Stafford, A; Basel-Salmon, L; Saitta, S; Suarez, CJ; Burnett, L; Nussbaum, RL; Aradhya, S. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. American Journal of Human Genetics. 2023; 110(4):551-564.

Penon-Portmann, M; Hodoglugil, U; Arun P, W; Yip, T; Slavotinek, A; Tenney, JL. TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American Journal of Medical Genetics, Part A. 2023; 191(4):1077-1082.

Wigby, K; Hammer, M; Tokita, M; Patel, P; Jones, MC; Larson, A; Bartolomei, FV; Dykzeul, N; Slavotinek, A; Yip, T; Dimmock, D; Maron, J; Davis, J; Del Campo, M. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American Journal of Medical Genetics, Part A. 2023; 191(4):930-940.

Adutwum, M; Hurst, A; Mirzaa, G; Kushner, JD; Rogers, C; Khalek, N; Cristancho, AG; Burrill, N; Seifert, ME; Scarano, MI; Schnur, RE; Slavotinek, A. Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients. Clinical Genetics. 2023; 103(1):97-102.

Sparks, TN; Lianoglou, BR; Hodoglugil, NS; Swanson, K; Downum, SL; Slavotinek, A; Devine, P; Hodoglugil, U; Van Ziffle, J; Norton, ME. Deep phenotyping expands our knowledge of fetal manifestations of genetic disease. American Journal of Obstetrics and Gynecology. 2023; 228(1):s750-s751.

Sparks, T; Lianoglou, B; Sahin-Holodlugil, N; Kvale, M; Van Ziffle, J; Devine, WP; Hodoglugil, U; Martin, P-M; Koenig, B; Kwok, P-Y; Ackerman, S; Slavotinek, A; Risch, N; Norton, M. O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort. Genetics in Medicine Open. 2023; 1(1):100648.

Norton, M; Lianoglou, B; Shear, M; Ackerman, S; Sahin-Holodlugil, N; Kvale, M; Van Ziffle, J; Devine, WP; Hodoglugil, U; Martin, P-M; Koenig, B; Risch, N; Kwok, P-Y; Slavotinek, A; Sparks, T. O40: Clinical utility of prenatal exome sequencing in a diverse cohort* Genetics in Medicine Open. 2023; 1(1):100647.

Qu'd, D; Schmitt, LM; Leston, A; Harris, JR; Slavotinek, A; Riddle, I; Brightman, DS; Simpson, BN. Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome. Frontiers in Genetics. 2023; 14:1116919.

Bowling, KM; Thompson, ML; Kelly, MA; Scollon, S; Slavotinek, AM; Powell, BC; Kirmse, BM; Hendon, LG; Brothers, KB; Korf, BR; Cooper, GM; Greally, JM; Hurst, ACE. Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. Genome Medicine. 2022; 14(1):131.

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(22).

Fasano, G; Muto, V; Radio, FC; Venditti, M; Mosaddeghzadeh, N; Coppola, S; Paradisi, G; Zara, E; Bazgir, F; Ziegler, A; Dallapiccola, B; Ahmadian, MR; Lauri, A; Tartaglia, M. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nature Communications. 2022; 13(1):6841.

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(11):1749-1760.

Ferket, BS; Baldwin, Z; Murali, P; Pai, A; Mittendorf, KF; Russell, HV; Chen, F; Lynch, FL; Lich, KH; Hindorff, LA; Savich, R; Slavotinek, A; Smith, HS; Gelb, BD; Veenstra, DL. Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. Genetics in Medicine. 2022; 24(10):2014-2027.

Riedhammer, KM; Burgemeister, AL; Cantagrel, V; Amiel, J; Siquier-Pernet, K; Boddaert, N; Hertecant, J; Kannouche, PL; Pouvelle, C; Htun, S; Kopajtich, R; Meitinger, T; Suleiman, J; El-Hattab, AW. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics. 2022; 31(18):3083-3094.

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(9):2766-2771.

Minatogawa, M; Unzaki, A; Morisaki, H; Syx, D; Sonoda, T; Janecke, AR; Slavotinek, A; Voermans, NC; Lacassie, Y; Mendoza-Londono, R; Matsumoto, N; Malfait, F; Miyake, N; Kosho, T. 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(9):865-877.

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(9):2724-2731.

Dias, K-R; Carlston, CM; Blok, LER; De Hayr, L; Nawaz, U; Evans, C-A; Bayrak-Toydemir, P; Htun, S; Zhu, Y; Ma, A; Buckley, MF; Schenck, A; Harvey, RJ; Roscioli, T. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine. 2022; 24(9):1952-1966.

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(8):2479-2484.

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(7):1997-2004.

Penon-Portmann, M; Carlston, CM; Martin, P-M; Slavotinek, A. Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. Molecular Syndromology. 2022; 13(4):337-342.

Rego, S; Hoban, H; Outram, S; Zamora, AN; Chen, F; Sahin-Hodoglugil, N; Anguiano, B; Norstad, M; Yip, T; Lianoglou, B; Sparks, TN; Norton, ME; Koenig, BA; Slavotinek, AM; Ackerman, SL. Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach. Genetics in Medicine. 2022; 24(6):1206-1216.

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(6):104496.

Chen, F; Ni, C; Wang, X; Cheng, R; Pan, C; Wang, Y; Liang, J; Zhang, J; Cheng, J; Chin, YE; Slavotinek, AM; Zhang, S; Li, M; Yao, Z. S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome. EMBO Molecular Medicine. 2022; 14(5):e14904.

Swanson, K; Sparks, TN; Lianoglou, BR; Chen, F; Downum, S; Patel, S; Rego, S; Yip, T; Van Ziffle, J; Koenig, BA; Slavotinek, AM; Norton, ME. Preference for secondary findings in prenatal and pediatric exome sequencing. Prenatal Diagnosis. 2022; 42(6):753-761.

Slavotinek, A; Lefebvre, M; Brehin, A-C; 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(2):104407.

Norstad, M; Outram, S; Brown, JEH; 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(2):410-418.

Phillips, KA; Trosman, JR; Douglas, MP; Gelb, BD; Ferket, BS; Hindorff, LA; Slavotinek, AM; Berg, JS; Russell, HV; Devine, B; Greve, V; Smith, HS. 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(1):238-244.