Publications

Adutwum, M; Hurst, A; Mirzaa, G; Kushner, JD; Rogers, C; Khalek, N; Cristancho, AG; Burrill, N; Seifert, ME; Scarano, MI; et al. Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients. Clinical Genetics. 2022.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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

Mannucci, I; Dang, ND P; Huber, H; Murry, JB; Abramson, J; Althoff, T; Banka, S; Baynam, G; Bearden, D; Beleza-Meireles, A; et al. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine. 2021; 13.

Schirwani, S; Albaba, S; Carere, DA; Guillen Sacoto, MJ; Milan Zamora, F; Si, Y; Rabin, R; Pappas, J; Renaud, DL; Hauser, N; et al. 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; et al. Response to Hamosh et al. American Journal of Human Genetics. 2021; 108:1809-1810.

Rossignol, F; Duarte Moreno, MS; Benoist, JF; Boehm, M; Bourrat, E; Cano, A; Chabrol, B; Cosson, C; Díaz, JL D; D’Harlingue, A; et al. 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.

Whalen, S; Shaw, M; Mignot, C; Héron, D; Bastaraud, SC; Walti, CC; Liebelt, J; Elmslie, F; Yap, P; Hurst, J; et al. 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.

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

Nisselle, A; Janinski, M; Martyn, M; McClaren, B; Kaunein, N; Riggs, ER; Barlow-Stewart, K; Belcher, A; Bernat, JA; Best, S; et al. 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.

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. 2021; 100:93-99.

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

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

Sheppard, SE; Campbell, IM; Harr, MH; Gold, N; Li, D; Bjornsson, HT; Cohen, JS; Fahrner, JA; Fatemi, A; Harris, JR; et al. 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. 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; et al. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. 2021; 41:91-92.

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. 2021; 99:638-649.

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.

Klöckner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bönnemann, CG; Brilstra, EH; et al. 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.

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.

Sparks, TN; Lianoglou, BR; Adami, RR; Pluym, ID; Holliman, K; Duffy, J; Downum, SL; Patel, S; Faubel, A; Boe, NM; et al. 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. 2021.

Norton, ME; Lianoglou, BR; van Ziffle, J; Faubel, A; Downum, S; Slavotinek, AM; Kwok, P; Koenig, B; Risch, N; Devine, P; et al. 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; et al. A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics. 2021; 108:8-15.

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.

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.

Barrus, K; Rego, S; Yip, T; Martin, PM; Glen, OA; Van Ziffle, J; Slavotinek, AM. The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients. American Journal of Medical Genetics, Part A. 2020; 182:2959-2963.

Islam, F; Htun, S; Lai, LW; Krall, M; Poranki, M; Martin, PM; Sobreira, N; Wohler, ES; Yu, J; Moore, AT; et al. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clinical Genetics. 2020; 98:499-506.

Sparks, TN; Lianoglou, BR; Adami, RR; Pluym, ID; Holliman, K; Duffy, J; Downum, SL; Patel, S; Faubel, A; Boe, NM; et al. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. New England Journal of Medicine. 2020; 383:1746-1756.

Hallgrímsson, B; Aponte, JD; Katz, DC; Bannister, JJ; Riccardi, SL; Mahasuwan, N; McInnes, BL; Ferrara, TM; Lipman, DM; Neves, AB; et al. Automated syndrome diagnosis by three-dimensional facial imaging. Genetics in Medicine. 2020; 22:1682-1693.

Solomon, BD; Slavotinek, AM. Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech. American Journal of Medical Genetics, Part A. 2020; 182:2003-2004.

Beleford, DT; Van Ziffle, J; Hodoglugil, U; Slavotinek, AM. A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. European Journal of Medical Genetics. 2020; 63.

Slavotinek, A; Misceo, D; Htun, S; Mathisen, L; Frengen, E; Foreman, M; Hurtig, JE; Enyenihi, L; Sterrett, MC; Leung, SW; et al. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human Molecular Genetics. 2020; 29:2218-2239.

Hampshire, K; Martin, PM; Carlston, C; Slavotinek, A. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. American Journal of Medical Genetics, Part A. 2020; 182:1923-1932.

Slavotinek, AM; Solomon, BD. Going forward in a new world. American Journal of Medical Genetics, Part A. 2020; 182:1553-1554.

Castilla-Vallmanya, L; Selmer, KK; Dimartino, C; Rabionet, R; Blanco-Sánchez, B; Yang, S; Reijnders, MR F; van Essen, AJ; Oufadem, M; Vigeland, MD; et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine. 2020; 22:1215-1226.

Zazo-Seco, C; Plaisancié, J; Bitoun, P; Corton, M; Arteche, A; Ayuso, C; Schneider, A; Zafeiropoulou, D; Gilissen, C; Roche, O; et al. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. Journal of Human Genetics. 2020; 65:487-491.

Slavotinek, A; van Hagen, JM; Kalsner, L; Pai, S; Davis-Keppen, L; Ohden, L; Weber, YG; Macke, EL; Klee, EW; Morava, E; et al. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. European Journal of Medical Genetics. 2020; 63.

Mendelsohn, BA; Beleford, DT; Abu-El-Haija, A; Alsaleh, NS; Rahbeeni, Z; Martin, PM; Rego, S; Huang, A; Capodanno, G; Shieh, JT; et al. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. American Journal of Medical Genetics, Part A. 2020; 182:513-520.

Trosman, JR; Weldon, CB; Slavotinek, A; Norton, ME; Douglas, MP; Phillips, KA. Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). Genetics in Medicine. 2020; 22:283-291.

de Amorim, J; Slavotinek, A; Fasken, MB; Corbett, AH; Morton, DJ. Modeling Pathogenic Variants in the RNA Exosome. 2020; 7.

Ko, J; Pomerantz, JH; Perry, H; Shieh, JT; Slavotinek, AM; Oberoi, S; Klein, OD. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. Cleft Palate-Craniofacial Journal. 2020; 57:132-136.

Sparks, TN; Chen, F; Rego, S; Lianoglou, BR; Patel, S; Slavotinek, AM; Koenig, B; Norton, ME. 904: Agreement to secondary findings with exome sequencing in pre- and postnatal settings. American Journal of Obstetrics and Gynecology. 2020; 222.

Sparks, TN; Lianoglou, BR; Patel, S; Adami, R; Rangwala, N; Pluym, ID; Holliman, K; Downum, S; Amezcua, J; Boe, NM; et al. 83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis. American Journal of Obstetrics and Gynecology. 2020; 222:s68-s69.

Darras, N; Ha, TK; Rego, S; Martin, PM; Barroso, E; Slavotinek, AM; Cilio, MR. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. American Journal of Medical Genetics, Part A. 2019; 179:2190-2195.

Slavotinek, A. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Human Genetics. 2019; 138:831-846.

Fischer-Zirnsak, B; Segebrecht, L; Schubach, M; Charles, P; Alderman, E; Brown, K; Cadieux-Dion, M; Cartwright, T; Chen, Y; Costin, C; et al. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. American Journal of Human Genetics. 2019; 105:631-639.

Balkin, DM; Poranki, M; Forester, CM; Dorsey, MJ; Slavotinek, A; Pomerantz, JH. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Molecular genetics & genomic medicine. 2019; 7.

Kanca, O; Andrews, JC; Lee, PT; Patel, C; Braddock, SR; Slavotinek, AM; Cohen, JS; Gubbels, CS; Aldinger, KA; Williams, J; et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 2019; 105:413-424.

Slavotinek, AM; Muenke, M. Introducing in AJMG Part A: Genetic Syndromes in Adults. American Journal of Medical Genetics, Part A. 2019; 179:1413-1414.

Johnston, JJ; Williamson, KA; Chou, CM; Sapp, JC; Ansari, M; Chapman, HM; Cooper, DN; Dabir, T; Dudley, JN; Holt, RJ; et al. NAA10 polyadenylation signal variants cause syndromic microphthalmia. Journal of Medical Genetics. 2019; 56:444-452.

Horowitz, CR; Orlando, LA; Slavotinek, AM; Peterson, J; Angelo, F; Biesecker, B; Bonham, VL; Cameron, LD; Fullerton, SM; Gelb, BD; et al. The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. American Journal of Human Genetics. 2019; 104:1088-1096.

Krall, M; Htun, S; Slavotinek, A. Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. PLoS ONE. 2019; 14.

Krall, M; Htun, S; Schnur, RE; Brooks, AS; Baker, L; de Alba Campomanes, A; Lamont, RE; Gripp, KW; Schneidman-Duhovny, D; Innes, AM; et al. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. European Journal of Human Genetics. 2019; 27:582-593.

Douglas, MP; Parker, SL; Trosman, JR; Slavotinek, AM; Phillips, KA. Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited. Genetics in Medicine. 2019; 21:152-160.

Abu-El-Haija, A; Fineman, J; Connolly, AJ; Murali, P; Judge, LM; Slavotinek, AM. Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. American Journal of Medical Genetics, Part A. 2018; 176:2877-2881.

Webber, EM; Hunter, JE; Biesecker, LG; Buchanan, AH; Clarke, EV; Currey, E; Dagan-Rosenfeld, O; Lee, K; Lindor, NM; Martin, CL; et al. Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. Human Mutation. 2018; 39:1677-1685.

Wang, X; Posey, JE; Rosenfeld, JA; Bacino, CA; Scaglia, F; Immken, LD; Harris, JM; Hickey, SE; Mosher, TM; Slavotinek, A; et al. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Annals of Clinical and Translational Neurology. 2018; 5:1277-1285.

Amendola, LM; Berg, JS; Horowitz, CR; Angelo, F; Bensen, JT; Biesecker, BB; Biesecker, LG; Cooper, GM; East, K; Filipski, K; et al. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. American Journal of Human Genetics. 2018; 103:319-327.

Slavotinek, A; Solomon, BD; Muenke, M. Early inspirations from times gone by. American Journal of Medical Genetics, Part A. 2018; 176:1797-1798.

Tan, W; Bird, LM; Sadhwani, A; Barbieri-Welge, RL; Skinner, SA; Horowitz, LT; Bacino, CA; Noll, LM; Fu, C; Hundley, RJ; et al. A randomized controlled trial of levodopa in patients with Angelman syndrome. American Journal of Medical Genetics, Part A. 2018; 176:1099-1107.

Krall, M; Htun, S; Anand, D; Hart, D; Lachke, SA; Slavotinek, AM. A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Human Genetics. 2018; 137:315-328.

Zarate, YA; Smith-Hicks, CL; Greene, C; Abbott, MA; Siu, VM; Calhoun, AR U L; Pandya, A; Li, C; Sellars, EA; Kaylor, J; et al. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics, Part A. 2018; 176:925-935.

Hirabayashi, KE; Moore, AT; Mendelsohn, BA; Taft, RJ; Chawla, A; Perry, D; Henry, D; Slavotinek, A. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). American Journal of Medical Genetics, Part A. 2018; 176:997-1000.

Anand, D; Agrawal, SA; Slavotinek, A; Lachke, SA. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Human Mutation. 2018; 39:471-494.

Kievit, A; Tessadori, F; Douben, H; Jordens, I; Maurice, M; Hoogeboom, J; Hennekam, R; Nampoothiri, S; Kayserili, H; Castori, M; et al. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European Journal of Human Genetics. 2018; 26:210-219.