Pedro A. Sanchez‐Lara

Cedars-Sinai Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

36h-index4.1kcitations180works0.32yr avg
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Research Topics

Cleft Lip and Palate Research(49), Craniofacial Disorders and Treatments(49), Genomic variations and chromosomal abnormalities(18), Genomics and Rare Diseases(15), Genetics and Neurodevelopmental Disorders(13)

Publications177 total

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
The American Journal of Human Genetics·2025Open Access
Corrigendum: “Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome” EBioMedicine, 2025, Feb:112:105578
EBioMedicine·2025Open Access
Updates in Trisomy 18
NeoReviews·2025
Integrative omics analyses identified a damaging protein–altering variant in KIF1B contributing to the risk of craniofacial microsomia
Seminars in Orthodontics·2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
Journal of Bone and Mineral Research·2025
A clinical and genotype-phenotype analysis of MACF1 variants
The American Journal of Human Genetics·2025· 1 citedOpen Access
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·2025Open Access
A Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment
International Dental Journal·2025· 1 citedOpen Access
Congenital Anomalies of the Skull
Elsevier eBooks·2025
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
EBioMedicine·2025· 2 citedOpen Access
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
2025· 2 citedOpen Access
Acid Ceramidase Deficiency
Neurology Genetics·2025· 1 citedOpen Access
Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
EBioMedicine·2025Open Access
Craniosynostosis
Elsevier eBooks·2024
List of Contributors
Elsevier eBooks·2024Open Access
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Annals of Neurology·2024· 9 citedOpen Access
A Reversible Etiology of Progressive Motor Decline in a Previously Healthy Child
PEDIATRICS·2024Open Access
Cephalohematoma
Elsevier eBooks·2024
Nasal Deformation
Elsevier eBooks·2024
Lambdoidal Craniosynostosis
Elsevier eBooks·2024
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Frequent Co-authors

John M. Graham(11), Mark M. Urata(8), William P. Magee(8), Yang Chai(7), Junichi Iwata(6), William B. Dobyns(5), Akiko Suzuki(5), Richard Pelikan(5), Margaret P Adam(4), Joan M. Stoler(4), Elaine H. Zackai(4), Joseph T.C. Shieh(4), A. Micheil Innes(4), Thach‐Vu Ho(4), Margaret Au(4), Ian A. Glass(3), Michael L. Cunningham(3), Ophir D. Klein(3), C. Nowak(3), Fowzan S. Alkuraya(3)