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D

Daryl A. Scott

baylor college of medicine

55H-index
259Paper Count
1.1WCitation Count
Published Papers 80
Publication Date
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Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
errClinical Genetics
IF2.3
err2026-06-23
err0
errOAAI
errEvan Burchfiel; Xiaonan Zhao; Nichole M. Owen; Tia Gordon; Mahshid S. Azamian; Eric C. Kao; Fan Xia; Xi Luo; Jill A. Rosenfeld; Seema R. Lalani; Allison P. Ortega; Steven B. Bleyl; Florence Petit; Sulekha Rajagopolan; Bénédicte Demeer; Meredith K. Gillespie; Lijia Huang; Matthew Osmond; Kym M. Boycott; Kyra E. Stuurman; Marjon A. van Slegtenhorst; Haley Soller; Céline Jost; Aurore Garde; Hana Safraou; Laurence Faivre; Victor Faundes; Daryl A. Scott
errShare
errSave
MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data
errGenetics in Medicine
IF6.2
err2026-06-09
err0
PREAI
errJoseph K. Aicher; Dina Issakova; Barry Slaff; San Jewell; Nicholas F. Lahens; Gregory R. Grant; Diana Baralle; Jill A. Rosenfeld; Daryl A. Scott; Elizabeth J. Bhoj; Yoseph Barash
errShare
errSave
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
errClinical Genetics
IF2.3
err2026-02-24
err0
errOAAI
errSarah Araji; Xiaonan Zhao; Jill A. Rosenfeld; Seema R. Lalani; Daryl A. Scott
errShare
errSave
WNT4 Deficiency Impacts Heart, Diaphragm, and Palate Development: Insights from Human Genetics, Machine Learning, and Mouse Models
errDevelopmental Biology
IF2.1
err2025-09-22
err0
PREAI
errAndrés Hernández-García; Bum Jun Kim; David Chitayat; Patrick Shannon; Stephanie Hedges; Maria Al Bandari; Maria J. Guillen Sacoto; Emily Anne Bates; Yunus H. Ozekin; Victor Faundes; Pamela N. Luna; Chad A. Shaw; Tara L. Rasmussen; Chih-Wei Hsu; Daryl A. Scott
errShare
errSave
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
errClinical Genetics
IF2.3
err2025-09-10
err0
PREAI
errRandee E. Young; Lu Qiao; Rebecca Hernan; David A. Sweetser; Jessica L. Waxler; Daryl A. Scott; Tiana M. Scott; Seema R. Lalani; Mahshid S. Azamian; Jill A. Rosenfeld; Bret Bostwick; Lindsay C. Burrage; Undiagnosed Diseases Network; Lance H. Rodan; Bianca E. Russell; Marina Dutra-Clarke; Michael Kruer; Somayeh Bakhtiarim; Hossein Darvish; David J. Amor; Shamima Rahman; Karen Stals; Lisa Bradley; Susan Byrne; Leandra K. Tolusso; Beatrix Wong; Laura Benedict; Kimberly Wallis; Kestutis Micke; Cindy Colson; Thomas Smol; Sabrina V. Southwick; Kristen A. Miller; Michelle L. Kush; Odelia Chorin; Annick Rothschild; Wei Wang; Yufeng Shen; Wendy K. Chung
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errSave
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
errEuropean Journal of Human Genetics
IF4.6
err2025-09-06
err0
errOAAI
errE. Andres Rivera-Munoz; Xiaonan E. Zhao; Jill A. Rosenfeld; Pamela N. Luna; Chad A. Shaw; Jennifer E. Posey; Daryl A. Scott
errShare
errSave
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
erramerican journal of human genetics
IF0
err2025-09-02
err0
errOAAI
errKelsey Robinson; Sunil K. Singh; Rachel B. Walkup; Dorelle V. Fawwal; Kendra M. Vilfort; Amanda Koloskee; Azeez Fashina; Wasiu Lanre Adeyemo; Terri H. Beaty; Azeez Butali; Carmen J. Buxó; Wendy K. Chung; David J. Cutler; Michael P. Epstein; Brooklynn Gasser; Lord J.J. Gowans; Jacqueline T. Hecht; Anuj Mankad; Lina Moreno Uribe; Daryl A. Scott; Gary M. Shaw; Mary Ann Thomas; Seth M. Weinberg; Eric C. Liao; Harrison Brand; Mary L. Marazita; Robert J. Lipinski; Jeffrey C. Murray; Robert A. Cornell; Elizabeth J. Leslie-Clarkson
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errSave
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
errEuropean Journal of Human Genetics
IF4.6
err2025-08-12
err0
errOAAI
errJulia Volpi; Xiaonan Zhao; Nichole Owen; Tia Evans; Muriel Holder-Espinasse; Nayana Lahiri; Eleanor Sherlock; Gemma Poke; Jeroen Breckpot; Koen Devriendt; Bjorn Cools; Alfredo Brusco; Giovanni Battista Ferrero; Enrico Grosso; Pradeep Vasudevan; Sara Loddo; Antonio Novelli; Maria Cristina Digilio; Aafke Engwerda; Marrit Hitzert; Alison Male; Lucy Bownass; Ruth Newbury-Ecob; Zosia Miedzybrodzka; Ruth Armstrong; Sally Ann Lynch; Gunnar Houge; Shiyi Xiong; Seema R. Lalani; Jill A. Rosenfeld; Pamela N. Luna; Chad A. Shaw; Daryl A. Scott
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errSave
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
errSCIENCE ADVANCES
IF12.5
err2024-07-12
err0
errOAAI
errFruh, Simon; Boudkkazi, Sami; Koppensteiner, Peter; Sereikaite, Vita; Chen, Li-Yuan; Fernandez-Fernandez, Diego; Rem, Pascal D.; Ulrich, Daniel; Schwenk, Jochen; Chen, Ziyang; Le Monnier, Elodie; Fritzius, Thorsten; Innocenti, Sabrina M.; Besseyrias, Valerie; Trovo, Luca; Stawarski, Michal; Argilli, Emanuela; Sherr, Elliott H.; van Bon, Bregje; Kamsteeg, Erik-Jan; Iascone, Maria; Pilotta, Alba; Cutri, Maria R.; Azamian, Mahshid S.; Hernandez-Garcia, Andres; Lalani, Seema R.; Rosenfeld, Jill A.; Zhao, Xiaonan; Vogel, Tiphanie P.; Ona, Herda; Scott, Daryl A.; Scheiffele, Peter; Stromgaard, Kristian; Tafti, Mehdi; Gassmann, Martin; Fakler, Bernd; Shigemoto, Ryuichi; Bettler, Bernhard
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errSave
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension
errJCI INSIGHT
IF6.1
err2024-05-08
err0
errOAAI
errCopeland, Ian; Wonkam-Tingang, Edmond; Gupta-Malhotra, Monesha; Hashmi, S. Shahrukh; Han, Yixing; Jajoo, Aarti; Hall, Nancy J.; Hernandez, Paula P.; Lie, Natasha; Liu, Dan; Xu, Jun; Rosenfeld, Jill; Haldipur, Aparna; Desire, Zelene; Coban-Akdemir, Zeynep H.; Scott, Daryl A.; Li, Qing; Chao, Hsiao-Tuan; Zaske, Ana M.; Lupski, James R.; Milewicz, Dianna M.; Shete, Sanjay; Posey, Jennifer E.; Hanchard, Neil A.
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errSave
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2024-03-19
err2
errOAAI
errKunisetty, Bhavana; Martin-Giacalone, Bailey A.; Zhao, Xiaonan; Luna, Pamela N.; Brooks, Brian P.; Hufnagel, Robert B.; Shaw, Chad A.; Rosenfeld, Jill A.; Agopian, A. J.; Lupo, Philip J.; Scott, Daryl A.
errShare
errSave
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
errNATURE COMMUNICATIONS
IF15.7
err2024-01-08
err2
errOAAI
errAccogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J.
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errSave
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-10-01
err2
errOAAI
errPetit, Florence; Longoni, Mauro; Wells, Julie; Maser, Richard S.; Bogenschutz, Eric L.; Dysart, Matthew J.; Contreras, Hannah T. M.; Frenois, Frederic; Pober, Barbara R.; Clark, Robin D.; Giampietro, Philip F.; Ropers, Hilger H.; Hu, Hao; Loscertales, Maria; Wagner, Richard; Ai, Xingbin; Brand, Harrison; Jourdain, Anne-Sophie; Delrue, Marie-Ange; Gilbert-Dussardier, Brigitte; Devisme, Louise; Keren, Boris; McCulley, David J.; Qiao, Lu; Hernan, Rebecca; Wynn, Julia; Scott, Tiana M.; Calame, Daniel G.; Coban-Akdemir, Zeynep; Hernandez, Patricia; Hernandez-Garcia, Andres; Yonath, Hagith; Lupski, James R.; Shen, Yufeng; Chung, Wendy K.; Scott, Daryl A.; Bult, Carol J.; Donahoe, Patricia K.; High, Frances A.
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errSave
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-09-07
err5
PREAI
errHuth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A.
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errSave
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction
errEMBO REPORTS
IF6.2
err2023-08-08
err0
errOAAI
errChiang, Ivy K. N.; Humphrey, David; Mills, Richard J.; Kaltzis, Peter; Pachauri, Shikha; Graus, Matthew; Saha, Diptarka; Wu, Zhijian; Young, Paul; Sim, Choon Boon; Davidson, Tara; Hernandez-Garcia, Andres; Shaw, Chad A.; Renwick, Alexander; Scott, Daryl A.; Porrello, Enzo R.; Wong, Emily S.; Hudson, James E.; Red-Horse, Kristy; del Monte-Nieto, Gonzalo; Francois, Mathias
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errSave
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
errGENETICS IN MEDICINE
IF6.2
err2023-08-01
err1
errOAAI
errPriestley, Jessica R. C.; Deshwar, Ashish R.; Murthy, Harsha; D'Agostino, Maria D.; Dupuis, Lucie; Gangaram, Balram; Gray, Christopher; Jobling, Rebekah; Pannia, Emanuela; Platzer, Konrad; Prescott, Katrina; Redman, Melody; Rippert, Alyssa L.; Rosenfeld, Jill A.; Scott, Daryl A.; Wang, Yi W.; Schmederer, Zelia; Dalal, Ashwin; Sarma, Asodu S.; Skraban, Cara; Dowling, James J.; Mendoza-Londono, Roberto; Slavotinek, Anne; Bhoj, Elizabeth J.
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errSave
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
errCIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
err2023-08-01
err5
errOAAI
errKramer, Ryan J.; Fatahian, Amir Nima; Chan, Alice; Mortenson, Jeffery; Osher, Jennifer; Sun, Bo; Parker, Lauren E.; Rosamilia, Michael B.; Potter, Kyra B.; Moore, Kaila; Atkins, Sage L.; Rosenfeld, Jill A.; Birjiniuk, Alona; Jones, Edward; Howard, Taylor S.; Kim, Jeffrey J.; Scott, Daryl A.; Lalani, Seema; Rouzbehani, Omid M. T.; Kaplan, Samantha; Hathaway, Marissa A.; Cohen, Jennifer L.; Asaki, S. Yukiko; Martinez, Hugo R.; Boudina, Sihem; Landstrom, Andrew P.
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-06-14
err6
PREAI
errMohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Azamian, Mahshid Sababi; Worley, Kim C.; Del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna
errShare
errSave
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-03-31
err0
errOAAI
errHernandez-Garcia, Andres; Pendleton, Katherine E.; Kim, Sangbae; Li, Yumei; Kim, Bum J.; Zaveri, Hitisha P.; Jordan, Valerie K.; Berry, Aliska M.; Ljungberg, M. Cecilia; Chen, Rui; Lanz, Rainer B.; Scott, Daryl A.
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errSave
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2022-12-06
err7
errOAAI
errDeloge, Raymond Belanger; Zhao, Xiaonan; Luna, Pamela N.; Shaw, Chad A.; Rosenfeld, Jill A.; Scott, Daryl A.
errShare
errSave

Research Directions

No research directions
Co-authors
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