Daryl A. Scott

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 5%percentile

0.461Author DataRank

Indexed papers

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Papers

Driven by 50 papers — median percentile 59. Top paper: “BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms”.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

1.7DataRank · unranked

49 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Human Mutation(2020)10.1002/humu.23992

N/A

0.961DataRank · unranked

28 citations

Hui Guo, Evan E. Eichler, Jill A. Rosenfeld, Kaifang Pang, Zhandong Liu +20 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0.587DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

Nature Communications(2023)10.1038/s41467-023-40363-1

N/A

0.581DataRank · unranked

47 citations

Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon +6 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.002

N/A

0.561DataRank · unranked

41 citations

Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain +48 more

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

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

EMBO Reports(2023)10.15252/embr.202255043

N/A

0.385DataRank · unranked

8 citations

David Humphrey, Richard J. Mills, Peter Kaltzis, Shikha Pachauri, Matthew S. Graus +16 more

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(2023)10.1136/jmg-2022-109127

N/A

0.385DataRank · unranked

12 citations

Maryam Vaseghi‐Shanjani, Jill A. Rosenfeld, Gui Xiang Yang, Henry Y. Lu, Mehul Sharma +23 more

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62976

N/A

0.385DataRank · unranked

12 citations

Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza‐Meireles +48 more

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Frontiers in Cell and Developmental Biology(2021)10.3389/fcell.2021.631428

N/A

0.360DataRank · unranked

10 citations

Tokiko Fukuda, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia +13 more

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia

Ophthalmic Epidemiology(2021)10.1080/09286586.2020.1862244

N/A

0.330DataRank · unranked

8 citations

Renata H. Benjamin, Daryl A. Scott, Brian P. Brooks, Robert B. Hufnagel, Scott D. McLean +12 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

Journal of Pediatric Genetics(2023)10.1055/s-0043-1767731

N/A

0.269DataRank · unranked

5 citations

Andrés Hernández, Jennifer M. Lyu, Ian M. Campbell, Chad A. Shaw, Julie Vogt +5 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0.241DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0.208DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.008

N/A

0.208DataRank · unranked

3 citations

Sunil Kumar Singh, Rachel B Walkup, Dorelle V. Fawwal, Kendra Vilfort, Amanda Koloskee +25 more

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2

Human Molecular Genetics(2023)10.1093/hmg/ddad050

N/A

0.208DataRank · unranked

3 citations

Katherine E. Pendleton, Sangbae Kim, Yumei Li, Bum Joon Kim, Hitisha P. Zaveri +7 more

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

medRxiv(2025)10.1101/2025.01.17.25320742

N/A

0.104DataRank · unranked

1 citations

Sunil Kumar Singh, Rachel B Walkup, Dorelle V. Fawwal, Wasiu Lanre Adeyemo, Terri H. Beaty +21 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0.104DataRank · unranked

1 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63845

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Lisa Emrick, Jill A. Rosenfeld, Shamika Ketkar, Lindsay C. Burrage +2 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

European Journal of Human Genetics(2025)10.1038/s41431-025-01929-3

N/A

0DataRank · unranked

4 citations

Xiaonan Zhao, Jill A. Rosenfeld, Pamela N. Luna, Chad A. Shaw, Jennifer E. Posey +2 more

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 more

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

medRxiv(2025)10.1101/2025.01.30.25321185

N/A

0DataRank · unranked

0 citations

Dina Issakova, Barry Slaff, San Jewell, Nicholas F. Lahens, Gregory R. Grant +7 more

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

Developmental Biology(2025)10.1016/j.ydbio.2025.09.016

N/A

0DataRank · unranked

0 citations

Bum‐Joon Kim, David Chitayat, Patrick Shannon, Stephanie Hedges, Maria Al Bandari +10 more

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

European Journal of Human Genetics(2025)10.1038/s41431-025-01916-8

N/A

0DataRank · unranked

2 citations

Xiaonan Zhao, Nichole Owen, Tom Evans, Muriel Holder‐Espinasse, Nayana Lahiri +28 more

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 more

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019

N/A

0DataRank · unranked

25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Human Molecular Genetics(2020)10.1093/hmg/ddz307

N/A

0DataRank · unranked

1 citations

Danielle Veenma, Oleg A. Shchelochkov, Zhiyin Yu, Bum‐Joon Kim, Hitisha P. Zaveri +12 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.14.297234

N/A

0DataRank · unranked

1 citations

Lindsay C. Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain +49 more

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.12.04.412288

N/A

0DataRank · unranked

0 citations

Sangbae Kim, Yumei Li, Bum‐Joon Kim, Hitisha P. Zaveri, Valerie K. Jordan +5 more

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

medRxiv(2021)10.1101/2021.07.07.21259278

N/A

0DataRank · unranked

2 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Matthew J. Dysart, Hannah T. M. Contreras +33 more

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00212-2

N/A

0DataRank · unranked

0 citations

Laura Mackay, Keren Machol, Sundeep G. Keswani, Lorraine Potocki, Eleonora Di Gregorio +5 more

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2105228119

N/A

0DataRank · unranked

31 citations

Jiehong Pan, David R. Spielberg, Neil A. Hanchard, Daryl A. Scott, Lindsay C. Burrage +21 more

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human Mutation(2022)10.1002/humu.24332

N/A

0DataRank · unranked

16 citations

Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian +19 more

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62889

N/A

0DataRank · unranked

10 citations

Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F. Wangler, Samantha A. Schrier Vergano +2 more

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

N/A

0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 more

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63331

N/A

0DataRank · unranked

17 citations

Saad A. Ehsan, Lilei Zhang, Samuel Mackenzie, Mahshid S. Azamian, Daryl A. Scott +3 more

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

Circulation Genomic and Precision Medicine(2023)10.1161/circgen.122.003912

N/A

0DataRank · unranked

13 citations

Amir Nima Fatahian, Alice Chan, Jeffery Mortenson, Jennifer Osher, Bo Sun +21 more

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

European Journal of Human Genetics(2023)10.1038/s41431-023-01451-4

N/A

0DataRank · unranked

8 citations

Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel, Inger Lily Hjuler Dorf +27 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.002

N/A

0DataRank · unranked

8 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart +34 more

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

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

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

Nature Communications(2024)10.1038/s41467-023-44611-2

N/A

0DataRank · unranked

15 citations

Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David R. Bell +53 more

MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63868

N/A

0DataRank · unranked

7 citations

Elizabeth Mizerik, Carlos A. Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A. Scott +1 more

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

Investigative Ophthalmology & Visual Science(2024)10.1167/iovs.65.3.25

N/A

0DataRank · unranked

8 citations

Bailey A. Martin‐Giacalone, Xiaonan Zhao, Pamela N. Luna, Brian P. Brooks, Robert B. Hufnagel +6 more

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

JCI Insight(2024)10.1172/jci.insight.172152

N/A

0DataRank · unranked

4 citations

Edmond Wonkam‐Tingang, Monesha Gupta‐Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo +19 more

Daryl A. Scott

Indexed papers

Top data-sharing exemplar

Papers