My Bibliography

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Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M, Adams DR, Hisama FM, Shashi V. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2025 Apr;197(4):e63956. doi: 10.1002/ajmg.a.63956. Epub 2024 Dec 4. PubMed PMID: 39629753; PubMed Central PMCID: PMC12057405.

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Aicher JK, Issakova D, Slaff B, Jewell S, Lahens NF, Grant GR, Baralle D, Rosenfeld JA, Scott DA, Bhoj EJ, Barash Y. MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data. medRxiv. 2025 Feb 2;. doi: 10.1101/2025.01.30.25321185. PubMed PMID: 39974028; PubMed Central PMCID: PMC11838695.

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Robinson K, Singh SK, Walkup RB, Fawwal DV, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Chung WK, Cutler DJ, Epstein MP, Fashina A, Gasser B, Gowans LJ, Hecht JT, Uribe LM, Scott DA, Shaw GM, Thomas MA, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Murray JC, Cornell RA, Leslie-Clarkson EJ. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. medRxiv. 2025 Jan 17;. doi: 10.1101/2025.01.17.25320742. PubMed PMID: 39867391; PubMed Central PMCID: PMC11759255.

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Kao EC, Mizerik EA, Bacino CA, Dai H, Vossaert L, Scott DA. MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan;197(1):e63868. doi: 10.1002/ajmg.a.63868. Epub 2024 Aug 30. PubMed PMID: 39215511; PubMed Central PMCID: PMC11637953.

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Waskow ER, Emrick LT, Rosenfeld JA, Ketkar S, Burrage LC, Scott DA. Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2025 Jan;197(1):e63845. doi: 10.1002/ajmg.a.63845. Epub 2024 Aug 21. PubMed PMID: 39166428; PubMed Central PMCID: PMC11637968.

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Früh S, Boudkkazi S, Koppensteiner P, Sereikaite V, Chen LY, Fernandez-Fernandez D, Rem PD, Ulrich D, Schwenk J, Chen Z, Le Monnier E, Fritzius T, Innocenti SM, Besseyrias V, Trovò L, Stawarski M, Argilli E, Sherr EH, van Bon B, Kamsteeg EJ, Iascone M, Pilotta A, Cutrì MR, Azamian MS, Hernández-García A, Lalani SR, Rosenfeld JA, Zhao X, Vogel TP, Ona H, Scott DA, Scheiffele P, Strømgaard K, Tafti M, Gassmann M, Fakler B, Shigemoto R, Bettler B. Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Sci Adv. 2024 Jul 12;10(28):eadk5462. doi: 10.1126/sciadv.adk5462. Epub 2024 Jul 10. PubMed PMID: 38985877; PubMed Central PMCID: PMC11235169.

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Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 8;9(9). doi: 10.1172/jci.insight.172152. PubMed PMID: 38716726; PubMed Central PMCID: PMC11141928.

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Kunisetty B, Martin-Giacalone BA, Zhao X, Luna PN, Brooks BP, Hufnagel RB, Shaw CA, Rosenfeld JA, Agopian AJ, Lupo PJ, Scott DA. High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):25. doi: 10.1167/iovs.65.3.25. PubMed PMID: 38502138; PubMed Central PMCID: PMC10959191.

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Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. PubMed PMID: 37872713.

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Pendleton KE, Hernandez-Garcia A, Lyu JM, Campbell IM, Shaw CA, Vogt J, High FA, Donahoe PK, Chung WK, Scott DA. FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. J Pediatr Genet. 2024 Mar;13(1):29-34. doi: 10.1055/s-0043-1767731. eCollection 2024 Mar. PubMed PMID: 38567173; PubMed Central PMCID: PMC10984716.

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Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7. PubMed PMID: 37673932; PubMed Central PMCID: PMC10689790.

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Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14. PubMed PMID: 37316189; PubMed Central PMCID: PMC11206234.

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Chiang IK, Humphrey D, Mills RJ, Kaltzis P, Pachauri S, Graus M, Saha D, Wu Z, Young P, Sim CB, Davidson T, Hernandez-Garcia A, Shaw CA, Renwick A, Scott DA, Porrello ER, Wong ES, Hudson JE, Red-Horse K, Del Monte-Nieto G, Francois M. Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction. EMBO Rep. 2023 Oct 9;24(10):e55043. doi: 10.15252/embr.202255043. Epub 2023 Aug 8. PubMed PMID: 37551717; PubMed Central PMCID: PMC10561369.

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Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. PubMed PMID: 37751738; PubMed Central PMCID: PMC10577083.

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Miyake CY, Ehsan SA, Zhang L, Mackenzie SJ, Azamian MS, Scott DA, Hernandez-Garcia A, Lalani SR. Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. Am J Med Genet A. 2023 Sep;191(9):2433-2439. doi: 10.1002/ajmg.a.63331. Epub 2023 Jul 8. PubMed PMID: 37421366; PubMed Central PMCID: PMC10612108.

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Yankee TN, Oh S, Winchester EW, Wilderman A, Robinson K, Gordon T, Rosenfeld JA, VanOudenhove J, Scott DA, Leslie EJ, Cotney J. Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. Nat Commun. 2023 Aug 2;14(1):4623. doi: 10.1038/s41467-023-40363-1. PubMed PMID: 37532691; PubMed Central PMCID: PMC10397224.

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Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genet Med. 2023 Aug;25(8):100863. doi: 10.1016/j.gim.2023.100863. Epub 2023 Apr 28. PubMed PMID: 37125634.

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Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP. PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. Circ Genom Precis Med. 2023 Aug;16(4):390-400. doi: 10.1161/CIRCGEN.122.003912. Epub 2023 Jul 3. PubMed PMID: 37395136; PubMed Central PMCID: PMC10528350.

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Hernández-García A, Pendleton KE, Kim S, Li Y, Kim BJ, Zaveri HP, Jordan VK, Berry AM, Ljungberg MC, Chen R, Lanz RB, Scott DA. SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2. Hum Mol Genet. 2023 Jun 19;32(13):2152-2161. doi: 10.1093/hmg/ddad050. PubMed PMID: 37000005; PubMed Central PMCID: PMC10281751.

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Schraw JM, Benjamin RH, Shumate CJ, Canfield MA, Scott DA, McLean SD, Northrup H, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Agopian AJ, Lupo PJ. Patterns of co-occurring birth defects in children with anotia and microtia. Am J Med Genet A. 2023 Mar;191(3):805-812. doi: 10.1002/ajmg.a.63081. Epub 2022 Dec 21. PubMed PMID: 36541232; PubMed Central PMCID: PMC9928897.

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Belanger Deloge R, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. Eur J Hum Genet. 2023 Mar;31(3):296-303. doi: 10.1038/s41431-022-01255-y. Epub 2022 Dec 6. PubMed PMID: 36474027; PubMed Central PMCID: PMC9995493.

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Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. PubMed PMID: 36135330; PubMed Central PMCID: PMC9669235.

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Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. PubMed PMID: 35904974; PubMed Central PMCID: PMC9474674.

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Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. Review. PubMed PMID: 35796094; PubMed Central PMCID: PMC9378577.

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Gofin Y, Scott DA. Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia. J Pediatr. 2022 Sep;248:13-14. doi: 10.1016/j.jpeds.2022.05.059. Epub 2022 Jun 3. PubMed PMID: 35667445; PubMed Central PMCID: PMC9912172.

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Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. PubMed PMID: 35907405; PubMed Central PMCID: PMC9388395.

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Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 Jul;188(7):2198-2203. doi: 10.1002/ajmg.a.62747. Epub 2022 Apr 9. PubMed PMID: 35396900; PubMed Central PMCID: PMC9197987.

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Fick TA, Scott DA, Lupo PJ, Weigand J, Morris SA. The frequency and efficacy of genetic testing in individuals with scimitar syndrome. Cardiol Young. 2022 Apr;32(4):550-557. doi: 10.1017/S1047951121002535. Epub 2021 Jul 2. PubMed PMID: 34210367; PubMed Central PMCID: PMC8988429.

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Benjamin RH, Scheuerle AE, Scott DA, Navarro Sanchez ML, Langlois PH, Canfield MA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Birth defect co-occurrence patterns in the Texas Birth Defects Registry. Pediatr Res. 2022 Apr;91(5):1278-1285. doi: 10.1038/s41390-021-01629-w. Epub 2021 Jun 30. PubMed PMID: 34193968; PubMed Central PMCID: PMC8716666.

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Sanchez MLN, Benjamin RH, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Lupo PJ, Agopian AJ. Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate. Cleft Palate Craniofac J. 2022 Apr;59(4):417-426. doi: 10.1177/10556656211010060. Epub 2021 Apr 28. PubMed PMID: 33906455; PubMed Central PMCID: PMC8954502.

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Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 Apr;43(4):461-470. doi: 10.1002/humu.24332. Epub 2022 Jan 30. PubMed PMID: 35094443; PubMed Central PMCID: PMC8960338.

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Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet. 2022 Mar;59(3):270-278. doi: 10.1136/jmedgenet-2020-107317. Epub 2021 Jan 18. PubMed PMID: 33461977; PubMed Central PMCID: PMC8286264.

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Scott DA, Gofin Y, Berry AM, Adams AD. Underlying genetic etiologies of congenital diaphragmatic hernia. Prenat Diagn. 2022 Mar;42(3):373-386. doi: 10.1002/pd.6099. Epub 2022 Jan 22. Review. PubMed PMID: 35037267; PubMed Central PMCID: PMC8924940.

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Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA, Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6). doi: 10.1073/pnas.2105228119. PubMed PMID: 35121658; PubMed Central PMCID: PMC8832968.

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Chen CA, Lattier J, Zhu W, Rosenfeld J, Wang L, Scott TM, Du H, Patel V, Dang A, Magoulas P, Streff H, Sebastian J, Svihovec S, Curry K, Delgado MR, Hanchard NA, Lalani S, Marom R, Madan-Khetarpal S, Saenz M, Dai H, Meng L, Xia F, Bi W, Liu P, Posey JE, Scott DA, Lupski JR, Eng CM, Xiao R, Yuan B. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 Feb;24(2):364-373. doi: 10.1016/j.gim.2021.09.017. Epub 2021 Nov 30. PubMed PMID: 34906496; PubMed Central PMCID: PMC8957292.

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Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. PubMed PMID: 34876591; PubMed Central PMCID: PMC8651650.

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Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, Agopian AJ, Lupo PJ. A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 Oct;28(5):428-435. doi: 10.1080/09286586.2020.1862244. Epub 2020 Dec 20. PubMed PMID: 33345678; PubMed Central PMCID: PMC8214631.

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Kim BJ, Scott DA. RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells. Dev Dyn. 2021 Oct;250(10):1398-1409. doi: 10.1002/dvdy.330. Epub 2021 Mar 29. PubMed PMID: 33742727.

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Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. PubMed PMID: 34450031; PubMed Central PMCID: PMC8456174.

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Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8]. J Pediatr Urol. 2021 Aug;17(4):e1. doi: 10.1016/j.jpurol.2021.07.008. Epub 2021 Jul 26. PubMed PMID: 34325994.

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Diaz D, Benjamin RH, Navarro Sanchez ML, Mitchell LE, Langlois PH, Canfield MA, Chen H, Scheuerle AE, Schaaf CP, Scott DA, Northrup H, Ray JW, McLean SD, Swartz MD, Ludorf KL, Lupo PJ, Agopian AJ. Patterns of congenital anomalies among individuals with trisomy 13 in Texas. Am J Med Genet A. 2021 Jun;185(6):1787-1793. doi: 10.1002/ajmg.a.62175. Epub 2021 Mar 22. PubMed PMID: 33749998; PubMed Central PMCID: PMC8193718.

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Kim BJ, Zaveri HP, Kundert PN, Jordan VK, Scott TM, Carmichael J, Scott DA. RERE deficiency contributes to the development of orofacial clefts in humans and mice. Hum Mol Genet. 2021 May 12;30(7):595-602. doi: 10.1093/hmg/ddab084. PubMed PMID: 33772547.

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Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. Review. PubMed PMID: 32518176.

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Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. PubMed PMID: 33596411; PubMed Central PMCID: PMC8008487.

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Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021;9:631428. doi: 10.3389/fcell.2021.631428. eCollection 2021. PubMed PMID: 33748114; PubMed Central PMCID: PMC7965969.

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Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Di Gregorio E, Naretto VG, Brusco A, Hernandez-Garcia A, Scott DA. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14. PubMed PMID: 33443296; PubMed Central PMCID: PMC8011624.

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Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Patterns of co-occurring birth defects among infants with hypospadias. J Pediatr Urol. 2021 Feb;17(1):64.e1-64.e8. doi: 10.1016/j.jpurol.2020.11.015. Epub 2020 Nov 12. PubMed PMID: 33281045; PubMed Central PMCID: PMC7935759.

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Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. PubMed PMID: 33173220; PubMed Central PMCID: PMC7862064.

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Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. PubMed PMID: 33232675; PubMed Central PMCID: PMC7820627.

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Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE, Lupski JR, Scott DA, Zackai EH. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A. 2020 Dec;182(12):2919-2925. doi: 10.1002/ajmg.a.61878. Epub 2020 Sep 21. PubMed PMID: 32954677; PubMed Central PMCID: PMC7988837.