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Thyroid : Official Journal of the American Thyroid Association|August 12, 2021
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-βPeter Lauffer, Hennie Bikker, Mark R Garrelfs, et al.Thyroid : Official Journal of the American Thyroid Association|April 2, 2024
Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval: A Systematic Review and Meta-Analysis of Individual Participant DataPeter Lauffer, Charlotte A Heinen, Annika W M Goorsenberg, et al.Clinical Genetics|November 24, 2025
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal PhenotypeArda Arduç, Linda C Zuurbier, Merel C van Maarle, et al.Human Molecular Genetics|April 13, 2022
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutationYalan Hu, Peter Lauffer, Michelle Stewart, et al.Thyroid : Official Journal of the American Thyroid Association|November 3, 2022
Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down SyndromePeter Lauffer, Nitash Zwaveling-Soonawala, Shaobo Li, et al.Journal of Crohn'S & Colitis|August 1, 2023
Peripheral Blood DNA Methylation Signatures and Response to Tofacitinib in Moderate-to-severe Ulcerative ColitisVincent Joustra, Andrew Y F Li Yim, Sara van Gennep, et al.The Journal of Clinical Endocrinology and Metabolism|April 14, 2020
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall StaturePeter Lauffer, Erick Miranda-Laferte, Hermine A van Duyvenvoorde, et al.Journal of the Endocrine Society|March 2, 2022
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall StaturePeter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, et al.International Journal of Molecular Sciences|April 13, 2023
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)Izabela M Krzyzewska, Peter Lauffer, Adri N Mul, et al.American Journal of Medical Genetics. Part A|April 4, 2025
Growth Charts for Children With Beckwith-Wiedemann SpectrumSaskia M Maas, Peter Lauffer, Guido Cocchi, et al.Pageof 4