Lorenzo D. Botto

Medicine

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 2%percentile

2.7Author DataRank

Indexed papers

5in 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 5 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.

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

Birth Defects Research(2021)10.1002/bdr2.1891

Top 17%

1.2DataRank

Top 17%30 citations

Gareth Baynam, Jorieke E. H. Bergman, Eva Bermejo, Lorenzo D. Botto, Mark A. Canfield +24 more

Papers

Driven by 46 papers — median percentile 64. Top paper: “Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs”.

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

Birth Defects Research(2021)10.1002/bdr2.1891

Top 17%

1.2DataRank

Top 17%30 citations

Gareth Baynam, Jorieke E. H. Bergman, Eva Bermejo, Lorenzo D. Botto, Mark A. Canfield +24 more

Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997–2011

Birth Defects Research(2021)10.1002/bdr2.1900

Top 26%

0.763DataRank

Top 26%18 citations

Suzanne M. Gilboa, Cynthia A. Moore, D. Kim Waller, Regina M. Simeone, Shin Y. Kim +6 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

Individuals aged 1-64 years with documented congenital heart defects at healthcare encounters, five U.S. surveillance sites, 2011-2013

American Heart Journal(2021)10.1016/j.ahj.2021.04.007

Top 36%

0.542DataRank

Top 36%22 citations

Sherry L. Farr, Wendy Book, Lorenzo D. Botto, Jennifer S. Li, Aida Soim +9 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Using a health observance event to raise awareness: An assessment of World Birth Defects Day

Birth Defects Research(2023)10.1002/bdr2.2210

Top 78%

0.104DataRank

Top 78%1 citations

T. Cara, Eva Bermejo, Boris Groisman, Salimah R. Walani, Jessica L. Peck +6 more

Comorbidities in Adolescents With Congenital Heart Disease: A Population-based Study

Pediatrics Open Science(2025)10.1542/pedsos.2025-000967

Top 78%

0.104DataRank

Top 78%1 citations

Lorenzo D. Botto, George K. Lui, Marcia L. Feldkamp, Jill Glidewell, Wendy M. Book +15 more

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study

Birth Defects Research(2025)10.1002/bdr2.2472

N/A

0.104DataRank · unranked

1 citations

Denise M. Kay, Faith Pangilinan, Lynn M. Almli, Mary M. Jenkins, Elizabeth Blue +24 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects

Birth Defects Research(2022)10.1002/bdr2.2068

N/A

0DataRank · unranked

4 citations

Lorenzo D. Botto, Sarah C. Tinker, Mark A. Canfield, Richard H. Finnell, M. Shayne Gallaway +6 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.02.486804

N/A

0DataRank · unranked

3 citations

Jan Parolek, Mads Møller Foged, Dmytro I. Danylchuk, Manuel Bozan, Bingshati Sarkar +12 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

International Undiagnosed Diseases Programs (UDPs): components and outcomes

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-023-02966-1

N/A

0DataRank · unranked

14 citations

Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren +3 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine

Neurology Genetics(2023)10.1212/nxg.0000000000200062

N/A

0DataRank · unranked

4 citations

Lana Vukadin, John C. Carey, Lorenzo D. Botto, Matt Velinder, Rong Mao +4 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017

Birth Defects Research(2024)10.1002/bdr2.2306

N/A

0DataRank · unranked

21 citations

Mark A. Canfield, Sergey Krikov, David Prieto‐Merino, A Šípek, Nathalie Lelong +27 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101851

N/A

0DataRank · unranked

4 citations

Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai +72 more

Cardiovascular disease risk factors in congenital heart disease survivors are associated with heart failure

Pediatric Research(2024)10.1038/s41390-024-03352-8

N/A

0DataRank · unranked

2 citations

Tracy Spears, Alfred D’Ottavio, Karen Chiswell, Kristin Sommerhalter, Aida Soim +8 more

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63516

N/A

0DataRank · unranked

2 citations

Nicola Longo, Robert G. Lewis, Thomas J. Nicholas, Steven E. Boyden, Ashley Andrews +6 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach

UNC Libraries(2024)10.17615/4h14-yj71

N/A

0DataRank · unranked

0 citations

Jianlin Li, Paul A. Romitti, Wendy N. Nembhard, Andrew F. Olshan, Marilyn L. Browne +11 more

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

BMC Medical Genomics(2025)10.1186/s12920-025-02227-z

N/A

0DataRank · unranked

4 citations

John M. O’Shea, Lucilla Pizzo, Ting Wen, Makenzie Fulmer, Jian Zhao +20 more

Neonatal outcomes of pregnancy in women with congenital heart disease

American Heart Journal(2025)10.1016/j.ahj.2025.08.009

N/A

0DataRank · unranked

2 citations

Lindsay A. Edwards, Ester Nilles, Karen Chiswell, Alfred D’Ottavio, Matthew R. Reeder +8 more

Comorbidity and Multimorbidity in Adults With Congenital Heart Disease: Findings From a Multi‐Site Population‐Based Study

Birth Defects Research(2025)10.1002/bdr2.2515

N/A

0DataRank · unranked

1 citations

Matthew R. Reeder, George K. Lui, Jill Glidewell, Wendy M. Book, Tessa Crume +15 more

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

Blood Advances(2025)10.1182/bloodadvances.2024015347

N/A

0DataRank · unranked

3 citations

Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher +9 more

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64108

N/A

0DataRank · unranked

0 citations

Jian Zhao, Steven E. Boyden, Rong Mao, Pınar Bayrak‐Toydemir, A. Pflaum +9 more

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework

Journal of Bone and Mineral Research(2025)10.1093/jbmr/zjaf183

N/A

0DataRank · unranked

0 citations

Hannah McCurry, Amanda Girod, Madeline Hughes, Emma H. Wilcox, Mayher Patel +23 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings

Birth Defects Research(2021)10.1002/bdr2.1898

N/A

0DataRank · unranked

19 citations

Aminkeng Zawuo Leke, P Whitfield, R.T. Moore, Katy Karnell, Ingeborg Barišić +12 more

Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach

PLoS Genetics(2021)10.1371/journal.pgen.1009413

N/A

0DataRank · unranked

4 citations

Emine Bircan, Xinyu Tang, Mohammed S. Orloff, Charlotte A. Hobbs, Marilyn L. Browne +11 more

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

eLife(2022)10.7554/elife.79278

N/A

0DataRank · unranked

37 citations

Jan Parolek, Mads Møller Foged, Dmytro I. Danylchuk, Manuel Bozan, Bingshati Sarkar +12 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0DataRank · unranked

32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Lorenzo D. Botto

Indexed papers

Top data-sharing exemplar

Papers