Slavotinek Lab

Publications

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:e64070.

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.

Biesecker, BB; Ackerman, SL; Brothers, KB; East, KM; Foreman, AK M; 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; 27:101363.

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.

Peron, A; D’Arco, F; Aldinger, KA; Smith-Hicks, C; Zweier, C; Gradek, GA; Bradbury, K; Accogli, A; Andersen, EF; Au, PY B; 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; 33:312-324.

Beatty, K; Deepak Verma, A; 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.

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

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: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; 79:632-633.

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; 34:246-251.

Scollon, S; Robinson, JO; Jo, E; Suckiel, SA; Amendola, LM; Foreman, AK M; 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; 26:101176.

Slavotinek, AM; Thompson, ML; Martin, LJ; Gelb, BD. Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease. Human Genetics and Genomics Advances. 2024; 5:100286.

Ha, T; Morgan, A; Bartos, MN; Beatty, K; Cogné, B; Braun, D; Gerber, CB; Gaspar, H; Kopps, AM; Rieubland, C; Palafoll, MI V; 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:e63559.

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:e63567.

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; 26:101118.

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; 331:1276-1278.

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. Human Genetics and Genomics Advances. 2024; 5:100282.

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. The American Journal of Human Genetics. 2024; 111:621-623.

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; 56:555-556.

Li, D; Wang, Q; Bayat, A; Battig, MR; Zhou, Y; Bosch, DG M; van Haaften, G; Granger, L; Petersen, AK; Pérez-Jurado, LA; Schmidt, R; Randolph, L; Spillmann, RC; Shashi, V. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation. 2024; 134:e171235.

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.

Slavotinek, AM. Dysmorphology, Phenotyping, and Sequences. Nelson Textbook of Pediatrics Volume 1 2. 2024.

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

Haldeman-Englert, CR; Slavotinek, AM. Ciliopathies. Nelson Textbook of Pediatrics Volume 1 2. 2024.

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.

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

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

Haldeman-Englert, CR; Slavotinek, AM. Craniosynostoses. Nelson Textbook of Pediatrics Volume 1 2. 2024.

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, PY; Norton, ME. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. npj Genomic Medicine. 2023; 8:10.

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; 35:673-696.

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

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

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 (Informa). 2023; 44:486-490.

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; 25:100899.

Priestley, JR C; 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; 25:100863.

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:e2022060318.

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

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.

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; 19:261-272.

Smallwood, K; Watt, KE N; 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. The American Journal of Human Genetics. 2023; 110:809-825.

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. The American Journal of Human Genetics. 2023; 110:551-564.

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; 191:930-940.

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; 191:1077-1082.

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

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: an international journal of genetics and molecular medicine. 2023; 103:97-102.

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:s750-s751.

Sparks, T; Lianoglou, B; Sahin-Holodlugil, N; Kvale, M; Van Ziffle, J; Devine, WP; Hodoglugil, U; Martin, P; Koenig, B; Kwok, P; 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; 1:100648.

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, AC E. 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.

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; 13:6841.

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.

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.

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; 24:2014-2027.

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; 31:3083-3094.

Dias, KR; Carlston, CM; Blok, LE R; De Hayr, L; Nawaz, U; Evans, CA; 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; 24:1952-1966.

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; 59:865-877.

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.

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.

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.

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.

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.

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; 24:1206-1216.

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; 65:104496.

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: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; 42:753-761.

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.

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.

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; 24:238-244.

Shieh, JT; Penon-Portmann, M; Wong, KH Y; Levy-Sakin, M; Verghese, M; Slavotinek, A; Gallagher, RC; Mendelsohn, BA; Tenney, J; Beleford, D; Klein, OD; Martin, D; Kwok, PY; Boffelli, D. Application of full-genome analysis to diagnose rare monogenic disorders. npj Genomic Medicine. 2021; 6:77.

Haverfield, EV; Esplin, ED; Aguilar, SJ; Hatchell, KE; Ormond, KE; Hanson-Kahn, A; Atwal, PS; Macklin-Mantia, S; Hines, S; Sak, CW M; Mendelsohn, BA; Green, RC; Aradhya, S; Nussbaum, RL. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Medicine. 2021; 19:199.

Mannucci, I; Dang, ND P; Huber, H; Murry, JB; Abramson, J; Althoff, T; Banka, S; Baynam, G; Bearden, D; Beleza-Meireles, A; Fischer, U; Yeo, NC; Kreienkamp, HJ; Lessel, D. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine: medicine in the post-genomic era. 2021; 13:90.

Schirwani, S; Albaba, S; Carere, DA; Guillen Sacoto, MJ; Milan Zamora, F; Si, Y; Rabin, R; Pappas, J; Renaud, DL; Hauser, N; Lynch, SA; Li, D; Graham, JM; Balasubramanian, M. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics, Part A. 2021; 185:3446-3458.

Biesecker, LG; Adam, MP; Alkuraya, FS; Amemiya, AR; Bamshad, MJ; Beck, AE; Bennett, JT; Bird, LM; Carey, JC; Chung, B; Weaver, DD; Williams, MS; Zackai, E; Zarate, YA. Response to Hamosh et al. The American Journal of Human Genetics. 2021; 108:1809-1810.

Whalen, S; Shaw, M; Mignot, C; Héron, D; Bastaraud, SC; Walti, CC; Liebelt, J; Elmslie, F; Yap, P; Hurst, J; Thomson, G; Riccardi, F; Gecz, J; Villard, L. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics. 2021; 29:1405-1417.

Rossignol, F; Duarte Moreno, MS; Benoist, JF; Boehm, M; Bourrat, E; Cano, A; Chabrol, B; Cosson, C; Díaz, JL D; D’Harlingue, A; Süßmuth, K; Thies, J; Ferreira, CR; Schiff, M. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genetics in Medicine. 2021; 23:1604-1615.

Mardy, AH; Hodoglugil, U; Yip, T; Slavotinek, AM. Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clinical Genetics: an international journal of genetics and molecular medicine. 2021; 100:93-99.

Nisselle, A; Janinski, M; Martyn, M; McClaren, B; Kaunein, N; Maguire, J; Riggs, ER; Barlow-Stewart, K; Belcher, A; Bernat, JA; Wessels, TM; Metcalfe, S; Jordan, H; Gaff, C. Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genetics in Medicine. 2021; 23:1356-1365.

Szot, JO; Slavotinek, A; Chong, K; Brandau, O; Nezarati, M; Cueto-González, AM; Patel, MS; Devine, WP; Rego, S; Acyinena, AP; Elliott, AM; Phillips, RS; Chapman, G; Dunwoodie, SL. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation. 2021; 42:862-876.

Chopra, M; McEntagart, M; Clayton-Smith, J; Platzer, K; Shukla, A; Girisha, KM; Kaur, A; Kaur, P; Pfundt, R; Veenstra-Knol, H; Robertson, SP; Lyonnet, S; Amiel, J; Gordon, CT. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. The American Journal of Human Genetics. 2021; 108:1138-1150.

Rots, D; Chater-Diehl, E; Dingemans, AJ M; Goodman, SJ; Siu, MT; Cytrynbaum, C; Choufani, S; Hoang, N; Walker, S; Awamleh, Z; Vissers, LE L M; Kleefstra, T; Koolen, DA; Weksberg, R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. The American Journal of Human Genetics. 2021; 108:1053-1068.

Sheppard, SE; Campbell, IM; Harr, MH; Gold, N; Li, D; Bjornsson, HT; Cohen, JS; Fahrner, JA; Fatemi, A; Harris, JR; Wilnai, Y; Zadeh, N; Zand, DJ; Falk, MJ. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American Journal of Medical Genetics, Part A. 2021; 185:1649-1665.

Brodie, KD; Moore, AT; Slavotinek, AM; Meyer, AK; Nadaraja, GS; Conrad, DE; Weinstein, JE; Chan, DK. Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome. The Laryngoscope. 2021; 131:E2053-E2059.

Sparks, TN; Lianoglou, BR; Adami, RR; Pluym, ID; Holliman, K; Duffy, K; Downum, SL; Patel, S; Faubel, A; Boe, NM; Van Ziffle, J; Sanders, SJ; MacKenzie, TC; Norton, ME. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. 2021; 41:91-92.

Flores Pimentel, MA; De La Huerta, I; Duncan, JL; Slavotinek, AM; Moore, AT; De Alba Campomanes, AG. PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. Retinal Cases and Brief Reports. 2021; 15:324-329.

Donohue, KE; Gooch, C; Katz, A; Wakelee, J; Slavotinek, A; Korf, BR. Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clinical Genetics: an international journal of genetics and molecular medicine. 2021; 99:638-649.

Carlston, C; Martin, P; Archibald, H; Wamsley, M; Greene, M; Vogel, H; Slavotinek, A. eP293 Homozygous PISD truncating variant in an adult patient presenting with chronic dysphagia, hoarseness, pectus carinatum, hearing loss, and hemiparesis. Molecular Genetics and Metabolism. 2021; 132:s185.

Klöckner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bönnemann, CG; Brilstra, EH; Zarate, YA; Møller, RS; Lemke, JR; Platzer, K. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine. 2021; 23:653-660.

Slavotinek, A; Prasad, H; Hoban, H; Yip, T; Rego, S; Martin, P; Van Ziffle, J; Devine, P; Hodoglugil, U. eP233 Predicting genes from phenotypes using Human Phenotype Ontology (HPO) terms. Molecular Genetics and Metabolism. 2021; 132:s149.

Sparks, TN; Lianoglou, BR; Adami, RR; Pluym, ID; Holliman, K; Duffy, J; Downum, SL; Patel, S; Faubel, A; Boe, NM; Van Ziffle, J; Sanders, SJ; MacKenzie, TC; Norton, ME. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. Obstetrical and Gynecological Survey. 2021; 76:139-141.

Slavotinek, AM. BARDET–BIEDL SYNDROME. Cassidy and Allanson's Management of Genetic Syndromes. : Wiley; Wiley; 2021.

Norton, ME; Lianoglou, BR; van Ziffle, J; Faubel, A; Downum, S; Slavotinek, AM; Kwok, P; Koenig, B; Risch, N; Devine, P; Sparks, TN. 1027 Diagnostic yield of exome sequencing in prenatal diagnosis. American Journal of Obstetrics and Gynecology. 2021; 224:s635-s636.

Biesecker, LG; Adam, MP; Alkuraya, FS; Amemiya, AR; Bamshad, MJ; Beck, AE; Bennett, JT; Bird, LM; Carey, JC; Chung, B; Weaver, DD; Williams, MS; Zackai, E; Zarate, YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. The American Journal of Human Genetics. 2021; 108:8-15.

Brin, MF; Kirby, RS; Slavotinek, A; Adams, A; Parker, L; Ukah, A; Radulian, L; Yedigarova, L; Yushmanova, I. Pregnancy outcomes following exposure to onabotulinumtoxinA update: 29 years of safety observation. Toxicon. 2021; 190:s10-s11.

Alankarage, D; Szot, JO; Pachter, N; Slavotinek, A; Selleri, L; Shieh, JT; Winlaw, D; Giannoulatou, E; Chapman, G; Dunwoodie, SL. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. 2021; 29:1068-1082.