R. Pfundt

发表

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Frédérick A. Mallette, Dagmar Glatz, V. Aggarwal, 2020, Genetics in Medicine.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

J. Schuurs-Hoeijmakers, R. Pfundt, P. Lapunzina, 2009, European journal of medical genetics.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

R. Pfundt, T. Strom, D. Wieczorek, 2015, Human Genetics.

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

N. de Leeuw, J. Hehir-Kwa, A. Smits, 2010, Journal of Medical Genetics.

Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines

H Straatman, R Pfundt, R. Pfundt, 2006, Oncogene.

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression

A. Hoischen, R. Pfundt, H. Brunner, 2010, Molecular Syndromology.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

J C Murray, R Pfundt, R. Pfundt, 2007, Journal of Medical Genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

N. de Leeuw, J. Hehir-Kwa, D. Smeets, 2011, Cytogenetic and Genome Research.

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis

N. de Leeuw, B. D. de Vries, D. Smeets, 2007, Journal of Medical Genetics.

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

G. Zampino, A. Selicorni, D. Milani, 2008, Clinical genetics.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Pure subtelomeric microduplications as a cause of mental retardation

N. de Leeuw, T. Kleefstra, B. Hamel, 2007, Clinical genetics.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

R Pfundt, R. Pfundt, N. de Leeuw, 2008, Journal of Medical Genetics.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

H. Warren, P. Blackburn, L. Ousager, 2022, European journal of medical genetics.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

J. Hehir-Kwa, N. Leeuw, R. Pfundt, 2011, Cytogenetic and Genome Research.