Daryl A. Scott - Publications, H-index & Citations

Daryl A. Scott

baylor college of medicine

55H指数

261论文数

1.1W被引数

收录论文 82

发表时间

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border 揭示德克萨斯州-墨西哥边境地区儿童听力损失的遗传景观

Clinical Genetics

IF2.3

2026-09-27

OAAI

Desiree Lanehart; Michelle Gray; Roberta Sierra; Camille Maldonado; Daniel Brooks; Hongzheng Dai; Aaly Rahimtoola; Sandy Magallan; Sarah Rodriguez; Jose Gamez; Pattie Rosenlund; Surya N. Mulukutla; Alberto Allegre; Lori Berry; Brendan Lee; Daryl A. Scott; Blake Vuocolo; Seema R. Lalani

SPEN deficiency contributes to the development of orofacial clefts in humans and mice SPEN缺陷在人类和小鼠中导致唇腭裂的发生

Human Molecular Genetics

IF3.2

2026-07-15

PREAI

Bum Jun Kim; Andrés Hernández-García; David L Curtis; Olivia Thompson; Neena Champaigne; Manuela Priolo; Francesca Clementina Radio; Marco Tartaglia; Muge Gucsavas-Calikoglu; Yael Shiloh-Malawsky; Yezmin Perilla-Young; Sarah Josephi-Taylor; Adam M Bournazos; Sandra T Cooper; Koen van Gassen; Marie-José van den Boogaard; Yunus H Ozekin; Emily Anne Bates; Natee Kongchan; Chih-Wei Hsu; Daryl A Scott

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants 杂合SEMA6A变异个体的神经发育表型与脑部异常

Clinical Genetics

IF2.3

2026-06-23

OAAI

Evan 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

MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data MAJIQ-CLIN：一种用于从RNA-Seq数据中识别孟德尔疾病致病变异的新型工具

Genetics in Medicine

IF6.2

2026-06-09

PREAI

Joseph 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

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions 非孤立性Dandy-Walker畸形：全外显子测序的有效性及表型扩展

Clinical Genetics

IF2.3

2026-02-24

OAAI

Sarah Araji; Xiaonan Zhao; Jill A. Rosenfeld; Seema R. Lalani; Daryl A. Scott

WNT4 Deficiency Impacts Heart, Diaphragm, and Palate Development: Insights from Human Genetics, Machine Learning, and Mouse Models WNT4 缺乏影响心脏、膈肌和腭部发育：来自人类遗传学、机器学习和小鼠模型的见解

Developmental Biology

IF2.1

2025-09-22

PREAI

Andrés 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

LONP1 Variants Are Associated With Clinically Diverse Phenotypes LONP1 变体与临床表型多样性相关

Clinical Genetics

IF2.3

2025-09-10

PREAI

Randee 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

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)临床外显子测序的有效性及涉及非孤立性肾脏和尿路先天性异常（CAKUT+）表型扩展

European Journal of Human Genetics

IF4.6

2025-09-06

OAAI

E. Andres Rivera-Munoz; Xiaonan E. Zhao; Jill A. Rosenfeld; Pamela N. Luna; Chad A. Shaw; Jennifer E. Posey; Daryl A. Scott

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy PRKCI基因中的罕见变异导致范德沃德综合征以及表皮样病的相关特征。

american journal of human genetics

IF0

2025-09-02

OAAI

Kelsey 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

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions 非隔离性法洛四联症（TOF+）：全外显子组测序的有效性及表型扩展

European Journal of Human Genetics

IF4.6

2025-08-12

OAAI

Julia 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

Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release

SCIENCE ADVANCES

IF12.5

2024-07-12

OAAI

Fruh, 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

Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension

JCI INSIGHT

IF6.1

2024-05-08

OAAI

Copeland, 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.

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2024-03-19

OAAI

Kunisetty, 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.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

NATURE COMMUNICATIONS

IF15.7

2024-01-08

OAAI

Accogli, 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.

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-10-01

OAAI

Petit, 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.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return 涉及异常肺静脉回流的临床外显子组测序功效和表型扩展

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-09-07

PREAI

Huth, 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.

Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction

EMBO REPORTS

IF6.2

2023-08-08

OAAI

Chiang, 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

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

GENETICS IN MEDICINE

IF6.2

2023-08-01

OAAI

Priestley, 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.

PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2023-08-01

OAAI

Kramer, 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.

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-06-14

PREAI

Mohajeri, 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

研究方向