P. van der Spek

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder

Andrew P. Stubbs, G. Mortier, P. J. van der Spek, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing

D. Zheng, H. Lachman, P. Chiurazzi, 2022, Scientific Reports.

An autoimmune phenotype in vulvar lichen sclerosus and lichen planus: a Th1 response and high levels of microRNA-155.

M. van Beurden, L. Blok, W. I. van der Meijden, 2012, The Journal of investigative dermatology.

Diagnostic Techniques and Criteria for First-Trimester Conjoined Twin Documentation: A Review of the Literature Illustrated by Three Recent Cases

E. Steegers, P. J. van der Spek, E. Kompanje, 2013, Obstetrical and Gynecological Survey.

Preoperative prediction of cosmetic results in breast conserving surgery

L. Koppert, I. Obdeijn, C. Verhoef, 2015, Journal of surgical oncology.

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Jonathan H. Morgan, M. P. Concas, Adriana I. Iglesias, 2018, Nature Genetics.

Identification of candidate genes for developmental colour agnosia in a single unique family

B. van der Zwaag, M. V. van Zandvoort, T. Nijboer, 2021, medRxiv.

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

R. Aebersold, J. Ranish, J. Hoeijmakers, 2004, Nature Genetics.

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

B. D. de Vries, L. Koster, B. Oostra, 2018, European Journal of Human Genetics.

The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia.

Andrew P. Stubbs, J. Tchinda, M. Fornerod, 2007, Blood.

Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing

D. Zheng, H. Lachman, P. Chiurazzi, 2022, Scientific Reports.

Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants

J. D. de Boer, Michelle M. Thomsen, S. Swagemakers, 2023, Frontiers in molecular neuroscience.

Plasticity mechanisms of genetically distinct Purkinje cells

Robin Broersen, C. I. De Zeeuw, S. Swagemakers, 2024, Bioessays.

A novel nicastrin mutation in a three‐generation Dutch family with hidradenitis suppurativa: a search for functional significance

A. Vossen, K. R. van Straalen, S. Swagemakers, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

B. D. de Vries, L. Koster, A. Verkerk, 2018, European Journal of Human Genetics.