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DARYL SCOTT

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    R01HD098458     (SCOTT, DARYL ARMSTRONG)Jul 1, 2020 - Apr 30, 2025
    NIH
    Mechanisms of Abnormal Diaphragm and Cardiac Development
    Role: Principal Investigator
    R03HD093962     (SCOTT, DARYL ARMSTRONG)Jul 20, 2018 - Jun 30, 2020
    NIH
    Morphogenetic and Molecular Mechanisms Underlying GATA4-Related Congenital Diaphragmatic Hernia
    Role: Principal Investigator
    R03HD075892     (SCOTT, DARYL ARMSTRONG)Aug 1, 2014 - Jul 31, 2016
    NIH
    The Role of RERE in Congenital Cardiac Anomalies
    Role: Principal Investigator
    R01HD064667     (SCOTT, DARYL ARMSTRONG)Mar 15, 2010 - Feb 28, 2015
    NIH
    Retinoid-Related Genes in Diaphragm and Cardiac Development
    Role: Principal Investigator
    K08HD050583     (SCOTT, DARYL ARMSTRONG)Sep 5, 2005 - Aug 31, 2010
    NIH
    Molecular Genetics of Congenital Diaphragmatic Hernia
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. 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 05; 65(3):25. PMID: 38502138; PMCID: PMC10959191.
      Citations:    Fields:    Translation:HumansAnimals
    2. Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, R?da M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR, 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. PMID: 37872713.
      Citations:    Fields:    Translation:HumansCells
    3. 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 12; 31(12):1430-1439. PMID: 37673932; PMCID: PMC10689790.
      Citations: 2     Fields:    Translation:Animals
    4. 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 09; 191(9):2433-2439. PMID: 37421366; PMCID: PMC10612108.
      Citations:    Fields:    Translation:Humans
    5. Hern?ndez-Garc?a 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 06 19; 32(13):2152-2161. PMID: 37000005; PMCID: PMC10281751.
      Citations: 1     Fields:    Translation:Animals
    6. 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. PMID: 38567173; PMCID: PMC10984716.
      Citations:    
    7. 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 03; 191(3):805-812. PMID: 36541232; PMCID: PMC9928897.
      Citations:    Fields:    Translation:Humans
    8. 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 03; 31(3):296-303. PMID: 36474027; PMCID: PMC9995493.
      Citations:    Fields:    Translation:Humans
    9. 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, T?rring 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 12; 188(12):3492-3504. PMID: 36135330; PMCID: PMC9669235.
      Citations:    
    10. 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 09; 188(9):2718-2723. PMID: 35796094; PMCID: PMC9378577.
      Citations:    Fields:    
    11. Gofin Y, Scott DA. Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia. J Pediatr. 2022 09; 248:13-14. PMID: 35667445; PMCID: PMC9912172.
      Citations:    Fields:    
    12. 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 04; 43(4):461-470. PMID: 35094443; PMCID: PMC8960338.
      Citations:    Fields:    Translation:HumansAnimals
    13. Scott DA, Gofin Y, Berry AM, Adams AD. Underlying genetic etiologies of congenital diaphragmatic hernia. Prenat Diagn. 2022 Mar; 42(3):373-386. PMID: 35037267; PMCID: PMC8924940.
      Citations: 1     Fields:    Translation:Humans
    14. 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 07; 6(1):104. PMID: 34876591; PMCID: PMC8651650.
      Citations:    
    15. 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 02; 24(2):364-373. PMID: 34906496; PMCID: PMC8957292.
      Citations:    Fields:    Translation:Humans
    16. Marom R, Burrage LC, Venditti R, 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, Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B, Cl?ment A, Blanco-S?nchez B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724. PMID: 34450031; PMCID: PMC8456174.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    17. 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. PMID: 34210367; PMCID: PMC8988429.
      Citations:    Fields:    Translation:Humans
    18. 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 05 12; 30(7):595-602. PMID: 33772547.
      Citations:    Fields:    Translation:HumansAnimalsCells
    19. Kim BJ, Scott DA. RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells. Dev Dyn. 2021 10; 250(10):1398-1409. PMID: 33742727.
      Citations:    Fields:    Translation:Animals
    20. Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Hernandez-Garcia A, Scott DA, Di Gregorio E, Naretto VG, Brusco A. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840. PMID: 33443296; PMCID: PMC8011624.
      Citations: 2     Fields:    Translation:Humans
    21. 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 10; 28(5):428-435. PMID: 33345678; PMCID: PMC8214631.
      Citations: 1     Fields:    Translation:Humans
    22. Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, 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, Keren B, Nava C, Mignot C, Faoucher M, Lesca G, Edery P. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. PMID: 33232675; PMCID: PMC7820627.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    23. Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA. Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966. PMID: 32449285.
      Citations: 3     Fields:    Translation:Humans
    24. Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761. PMID: 31970900.
      Citations: 4     Fields:    Translation:Humans
    25. Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA, Whalen S, Keren B, Courtin T. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. Am J Med Genet A. 2020 04; 182(4):652-658. PMID: 31883306.
      Citations: 3     Fields:    Translation:Humans
    26. Pillai NR, Shayota BJ, Ghosh R, Sun Q, Azamian MS, Lalani SR, Scott DA, Yubero D, Oyarz?bal A, Arjona C, Brandi N, Palau F, Artuch R, Garc?a-Cazorla A. Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468. PMID: 31520464.
      Citations: 4     Fields:    Translation:HumansAnimals
    27. Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382. PMID: 31069960; PMCID: PMC6557668.
      Citations: 18     Fields:    Translation:HumansCells
    28. Karolak JA, Deutsch G, Gambin T, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Denis-Musquer M, Joubert M, Martinovic J, Carles D, Devisme L, Chalabreysse L, Don M, Orsaria M, Missirian C, Sanlaville D, Pons L, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Stankiewicz P, Vincent M, Cogn? B, Pichon O, Besnard T, Petit F, Bache I, T?mer Z, B?n?teau C, Molin A, Andr? G, Bieth E, Chassaing N, Pasquier L, Secq V, Mortreux J, K?ry S, B?zieau S, Liet JM, Joram N, Bihou?e T, Isidor B, Le Caignec C. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228. PMID: 30639323; PMCID: PMC6369446.
      Citations: 28     Fields:    Translation:HumansCells
    29. Kim BJ, Zaveri HP, Jordan VK, Hernandez-Garcia A, Jacob DJ, Zamora DL, Yu W, Schwartz RJ, Scott DA. RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects. Dis Model Mech. 2018 08 28; 11(9). PMID: 30061196; PMCID: PMC6176990.
      Citations:    Fields:    Translation:AnimalsCells
    30. Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075. PMID: 29618029; PMCID: PMC5985720.
      Citations: 7     Fields:    Translation:HumansAnimals
    31. Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny D, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet. 2018 Dec; 7(4):164-173. PMID: 30430034; PMCID: PMC6234038.
      Citations: 6     
    32. Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM, Hern?ndez PP. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662. PMID: 29784638; PMCID: PMC6085991.
      Citations:    Fields:    Translation:Humans
    33. Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Boddaert N, Cantagrel V, Lewis AM, Scaglia F, Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA, Rio M. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675. PMID: 29330883; PMCID: PMC5903952.
      Citations: 12     Fields:    Translation:Humans
    34. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083; PMCID: PMC6359927.
      Citations: 130     Fields:    Translation:Humans
    35. Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One. 2017; 12(4):e0175962. PMID: 28414775; PMCID: PMC5393878.
      Citations: 6     Fields:    Translation:HumansCells
    36. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420. PMID: 27657687; PMCID: PMC5362362.
      Citations: 36     Fields:    Translation:Humans
    37. Starkovich M, Lalani SR, Mercer CL, Scott DA. Chromosome 5q33 deletions associated with congenital heart defects. Am J Med Genet A. 2016 12; 170(12):3338-3342. PMID: 27589475.
      Citations: 3     Fields:    Translation:HumansCells
    38. Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 01; 54(1):47-53. PMID: 27550220.
      Citations: 5     Fields:    Translation:Humans
    39. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Walkiewicz MA, Vincent M, K?ry S, Besnard T, Isidor B, Latypova X, B?zieau S, Schaaf CP. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727. PMID: 27545676; PMCID: PMC5011061.
      Citations: 19     Fields:    Translation:Humans
    40. Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH. Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 09; 119(1-2):68-74. PMID: 27484306; PMCID: PMC5031536.
      Citations: 3     Fields:    Translation:HumansCells
    41. Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015; 8:189-200. PMID: 26345236; PMCID: PMC4555966.
      Citations: 51     
    42. Jordan VK, Rosenfeld JA, Lalani SR, Scott DA. Duplication of HEY2 in cardiac and neurologic development. Am J Med Genet A. 2015 Sep; 167A(9):2145-9. PMID: 25832314; PMCID: PMC4545384.
      Citations: 4     Fields:    Translation:HumansAnimals
    43. Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6. PMID: 25736269; PMCID: PMC4522925.
      Citations: 13     Fields:    Translation:Humans
    44. Kim BJ, Scott DA. Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells. PLoS One. 2014; 9(1):e87518. PMID: 24466353; PMCID: PMC3900724.
      Citations: 8     Fields:    Translation:AnimalsCells
    45. Zaveri HP, Beck TF, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA, Hern?ndez-Garc?a A. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One. 2014; 9(1):e85600. PMID: 24454898; PMCID: PMC3893250.
      Citations: 22     Fields:    Translation:HumansCells
    46. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P, Rodr?guez Rojas LX. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409. PMID: 23657883; PMCID: PMC3759717.
      Citations: 60     Fields:    Translation:HumansCells
    47. Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA, Hern?ndez-Garc?a A. Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. PLoS One. 2013; 8(3):e58830. PMID: 23536828; PMCID: PMC3594180.
      Citations: 8     Fields:    Translation:AnimalsCells
    48. Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA, Hern?ndez-Garc?a A. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013; 8(2):e57460. PMID: 23451234; PMCID: PMC3581587.
      Citations: 13     Fields:    Translation:AnimalsCells
    49. Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 01; 22(5):1026-38. PMID: 23221805; PMCID: PMC3561915.
      Citations: 19     Fields:    Translation:HumansAnimals
    50. Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910. PMID: 22890305; PMCID: PMC3493700.
      Citations: 21     Fields:    Translation:HumansCells
    51. Wat MJ, Beck TF, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA, Hern?ndez-Garc?a A. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet. 2012 Sep 15; 21(18):4115-25. PMID: 22723016; PMCID: PMC3428158.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    52. Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA, Hern?ndez-Garc?a A. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul; 158A(7):1785-7. PMID: 22639458.
      Citations: 7     Fields:    Translation:Humans
    53. Richards EG, Zaveri HP, Wolf VL, Kang SH, Scott DA. Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22. Am J Med Genet A. 2011 Jul; 155A(7):1729-34. PMID: 21671376.
      Citations: 4     Fields:    Translation:HumansCells
    54. Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307. PMID: 21525063; PMCID: PMC3227222.
      Citations: 36     Fields:    Translation:HumansCells
    55. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6. PMID: 21150890; PMCID: PMC3061988.
      Citations: 39     Fields:    Translation:HumansCells
    56. Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. J Med Genet. 2010 Nov; 47(11):777-81. PMID: 20921022; PMCID: PMC3225959.
      Citations: 18     Fields:    Translation:HumansCells
    57. Qidwai K, Pearson DM, Patel GS, Pober BR, Immken LL, Cheung SW, Scott DA. Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A. 2010 Jun; 152A(6):1588-90. PMID: 20503342; PMCID: PMC2909827.
      Citations: 6     Fields:    Translation:HumansCells
    58. Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA. Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010 Feb; 152A(2):453-8. PMID: 20101693.
      Citations: 2     Fields:    Translation:HumansCells
    59. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906; PMCID: PMC3158566.
      Citations: 213     Fields:    Translation:HumansCells
    60. Williams JM, Beck TF, Pearson DM, Proud MB, Cheung SW, Scott DA. A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am J Med Genet A. 2009 Aug; 149A(8):1758-62. PMID: 19606485; PMCID: PMC2909829.
      Citations: 31     Fields:    Translation:HumansCells
    61. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77. PMID: 19606479; PMCID: PMC2765374.
      Citations: 58     Fields:    Translation:HumansCells
    62. Holder AM, Graham BH, Lee B, Scott DA. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet A. 2007 Nov 01; 143A(21):2576-80. PMID: 17394214.
      Citations: 1     Fields:    Translation:Humans
    63. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86. PMID: 17607705.
      Citations: 59     Fields:    Translation:HumansCells
    64. Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1071-81. PMID: 17431898.
      Citations: 19     Fields:    Translation:HumansCells
    65. Scott DA. Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg. 2007 May; 16(2):88-93. PMID: 17462560.
      Citations: 10     Fields:    Translation:HumansCells
    66. Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet. 2007 Feb 15; 16(4):424-30. PMID: 17210672.
      Citations: 35     Fields:    Translation:HumansCells
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