Scott, M.D., Ph.D.
Scott, M.D., Ph.D.
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Faculty Member
Graduate Program in Development, Disease Models & Therapeutics
Baylor College of Medicine
Medical Research Pathway
Baylor College of Medicine
- BS from Brigham Young University
- 01/1993 - Provo, UT United States
- PhD from University Of Iowa
- 01/2000 - Iowa City, IA United States
- MD from University Of Iowa
- 01/2000 - Iowa City, IA United States
- Residency at University Of Utah
- 01/2003 - Salt Lake City, UT United States
- Residency at Baylor College Of Medicine
- 01/2004 - Houston, TX United States
- Clinical Genetics
- General Pediatrics
- American Board of Pediatrics
- Clinical Genetics
- American Board of Medical Genetics
Honors & Awards
- National finalist for Council of Graduate Schools/UMI Outstanding Dissertation in the Biological and Life Sciences
- Spriestersbach Dissertation Prize
- University of Iowa (01/1999)
- 3rd Place, Oral Presentation, Midwest Student Medical Research Forum
- Borts Award
- University of Iowa (01/1996)
- New Researcher Club Award
- University of Iowa (01/1994)
- Outstanding Graduate Teaching Award 2011
- Molecular and Human Genetics Department (01/2012)
- Fulbright and Jaworski L.L.P. Faculty Excellence Award for Teaching/Evaluation
- Baylor College of Medicine (01/2013)
- Identifying and characterizing genes responsible for common birth defects
Professional StatementOur laboratory is dedicated to identifying and characterizing genes and genomic alterations that cause common, life-threatening birth defects and determining the molecular mechanisms by which they impact human health.
Congenital Diaphragmatic Hernia and Cardiovascular Malformations: Children with congenital diaphragmatic hernia (CDH) have an abnormal opening in the diaphragm that allows abdominal organs, like the liver and intestines, to enter the chest. This invasion interferes with normal lung development causing severe respiratory problems at birth. CDH affects about one in every 3,500 newborns. CDH-associated mortality and morbidity are high, particularly in the subset of individuals who have a co-existing cardiovascular malformation (CVM). We use clinical and molecular data from patients and machine learning to identify genes associated with CDH and/or CVM. Genes we have worked on include GATA4, SOX7, ZFPM2, FREM1, FREM2, FRAS1, NONO, NR2F2, FZD2, HCCS, HEY2, FBN1, SON, TRRAP, FGFRL1, and FOXP1. We are now using mouse models developed in our laboratory to discover the morphogenetic and molecular mechanisms by which a subset of these genes function during diaphragm and heart development.
1p36 Deletion Syndrome: Deletions of chromosome 1p36 can cause a variety of birth defects including brain anomalies, eye/vision problems, hearing loss, cardiovascular defects, cardiomyopathy and renal anomalies. Approximately one in 5,000 newborns carry either a terminal or interstitial deletion on chromosome 1p36. The RERE gene is located on chromosome 1p36 and encodes a nuclear receptor coregulator that plays an important role during embryonic development. Using a combination of animal models and data from individuals with mutations of RERE, we have shown that RERE plays a critical role in the development of the brain, eye, inner ear, heart and kidneys. We are actively working to determine the molecular mechanisms by which RERE deficiency causes defects in each of these organs. We are also searching for other genes that contribute to the medical problems seen in individuals with 1p36 deletions.
Esophageal Atresia/Tracheoesophageal Fistula (EA/TEF): Another life-threatening birth defect of interest is esophageal atresia/tracheoesophageal fistula (EA/TEF). During development, the esophagus (stomach tube) and the trachea (windpipe) develop from a common progenitor called the anterior foregut tube. In about one in 3,500 newborns, the development of these tubes is abnormal resulting in failure of the esophagus to reach the stomach (esophageal atresia) or an abnormal connection between the trachea and esophagus (tracheoesophageal fistula). Approximately 50% of EA/TEF cases occur in association with additional anomalies and 10% of cases have a constellation of findings known as VACTERL (Vertebral, Anal, Cardiac, TracheoEsophageal Fistula, Renal and Limb) association. We are using clinical and molecular data from research, clinical and public databases, in conjunction with machine learning, to identify new genes for EA/TEF and the other structural anomalies associated with VACTERL association.
Neurodevelopmental Phenotypes: We work with physicians and scientists from around the world to identify genes and genomic regions that are associated with neurodevelopmental phenotypes including developmental delay, intellectual disability and autism.
- Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, (…), Scott DA "Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data." Am J Med Genet A..2022;188:2958-2968. Pubmed PMID: 35904974
- 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/September;188:2718-2723. Pubmed PMID: 35796094
- Gofin Y, Wang T, Gillentine MA, Scott TM, (...), Scott DA "Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency." Hum Mutat.2022;43:461-470. Pubmed PMID: 35094443
- Kim BJ, Scott DA "RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells.." Dev Dyn..2021;250:1398-140. Pubmed PMID: 33742727
- 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 30 : 595-602.
- Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, (…), 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 108 : 502-516.
- 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.. 2021 : Pubmed PMID: 33461977
- 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 185 : 836-840.
- Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, (…), 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 107 : 1096-1112.
- Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, (...), Scott DA "Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.." Am J Med Genet A. 2020 182 : 652-658.
- Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, (...), Scott DA "BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.." Hum Mutat. 2020 41 : 921-925.
- 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 179 : 1376-1382.
- Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, (...), Scott DA, (...), Bolduc F, Bézieau S, Küry S, Campeau PM "Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.." Am J Hum Genet.. 2019 104 : 530-541.
- Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, (...), Scott DA, (...), Isidor B, Le Caignec C, Stankiewicz P "Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.." Am J Hum Genet. 2019 104 : 213-228.
- Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, (...), Scott DA, (...), Eng CM, Lupski JR, Liu P "Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.." Genome Med.. 2019 11 : 16.
- 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 11 : dmm031534. Pubmed PMID: 30061196
- Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM "Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.." Blood. 2018 132 : 658-662. Pubmed PMID: 29784638
- Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Pain IS, Posey JE, Munzy 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 7 : 164-173. Pubmed PMID: 30430034
- Jordan VK, Beck TF, Hernandez-Garcia A, (...), Lupski JR, Scott DA "The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.." Mol Hum Genet. 2018 27 : 2064-2075. Pubmed PMID: 29618029
- Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, (...), Scott DA "Genotype-phenotype correlations in individuals with pathogenic RERE variants.." Hum Mutat.. 2018 39 : 666-675. Pubmed PMID: 29330883
- 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 54 : 4753. Pubmed PMID: 27550220
- 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 : e0175962. Pubmed PMID: 28414775
- Tokita MJ, Braxton AA, Shao Y, (...), Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA "De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive." Am J Hum Genet. 2016 99 : 720-7. Pubmed PMID: 27545676
- Starkovich M, Lalani SR, Mercer CL, Scott DA "Chromosome 5q33 deletions associated with congenital heart defects." Am J Med Genet A. 2016 170 : 3338-3342. Pubmed PMID: 27589475
- Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, (...), Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A "Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.." Eur J Hum Genet. 2016 24 : 1715-1723. Pubmed PMID: 27436264
- Fregeau B, Kim BJ, Hernández-García A, Jordan VK, (...), Scott DA*, Sherr EH* "De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions." Am J Hum Genet. 2016 98 : 963-70. Pubmed PMID: 27087320
- 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 April ; 167 : 831-6. Pubmed PMID: 25736269
- 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 January 23; 9 (1): e87518. Pubmed PMID: 24466353
- Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA "Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36." PLoS One. 2014 January 15; 9 (1): e85600. Pubmed PMID: 24454898
- Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA "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. Pubmed PMID: 23451234
- 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 August ; 149 (8): 1661-77. Pubmed PMID: 19606479
- 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 March 1; 22 (5): 1026-38. Pubmed PMID: 23221805
- 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 June ; 152 (6): 1588-90. Pubmed PMID: 20503342
- Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA "Genetic factors in congenital diaphragmatic hernia.." Am. J. Hum. Genet.. 2007 May ; 80 (5): 825-45. Pubmed PMID: 17436238
- 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. Pubmed PMID: 21525063
- Wat MJ, Beck TF, Hernández-García A, 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 "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 September 15; 21 (18): 4115-25. Pubmed PMID: 22723016
- Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA "Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.." PLoS ONE. 2013 8 (3): e58830. Pubmed PMID: 23536828
- 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 November ; 47 (11): 777-81. Pubmed PMID: 20921022
- American Society of Human Genetics
- American Heart Association
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