Pedro A. Sanchez‐Lara

Biochemistry, Genetics and Molecular Biology

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 16 papers. Top paper: “Automated syndrome diagnosis by three-dimensional facial imaging”.

Automated syndrome diagnosis by three-dimensional facial imaging

Genetics in Medicine(2020)10.1038/s41436-020-0845-y

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0DataRank · unranked

106 citations

J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan +33 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

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0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

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0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

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0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62194

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0DataRank · unranked

12 citations

Nisha Patel, John M. Graham, Michael J. Bamshad, Deborah A. Nickerson, Janson J. White +10 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

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0DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014

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0DataRank · unranked

36 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

A neurodevelopmental disorder associated with an activatingde novomissense variant inARF1

Human Molecular Genetics(2022)10.1093/hmg/ddac279

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0DataRank · unranked

15 citations

María Gabriela Otero, Christina Freeman, Pedro A. Sanchez‐Lara, Carlos M. Guardia, Tyler Mark Pierson +2 more

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

Cellular and Molecular Life Sciences(2023)10.1007/s00018-023-04705-y

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0DataRank · unranked

11 citations

Miranda J. McDaniel, Riley E. Perszyk, Sukhan Kim, Gerarda Cappuccio, Kevin A. Shapiro +13 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

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0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105677

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0DataRank · unranked

6 citations

Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan +36 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004

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0DataRank · unranked

1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

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0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

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0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome

EBioMedicine(2025)10.1016/j.ebiom.2025.105578

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0DataRank · unranked

0 citations

Hyeon Jun Shin, Alan Gutierrez, Noelle Yoo, Jennefer Par‐Young, Lais Osmani +6 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