M. Weiss

发表

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

J. D. de Vries, F. Baas, Q. Waisfisz, 2014, European Journal of Human Genetics.

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

R. Gibbs, D. Muzny, A. Sabo, 2016, Cold Spring Harbor molecular case studies.

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

D. Oepkes, E. Sistermans, M. Weiss, 2016, Prenatal diagnosis.

Leiden open variation database of the MUTYH gene

Peter Devilee, Florentia Fostira, Riccardo Fodde, 2010, Human mutation.

Genomic profiling of gastric cancer predicts lymph node status and survival

Ivar Siccama, Daniel Pinkel, Marjan M Weiss, 2003, Oncogene.

Best Practice Guidelines for the Use of Next‐Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

Quinten Waisfisz, M. Nelen, Q. Waisfisz, 2013, Human mutation.

Comparative genomic hybridisation.

M M Weiss, P. V. van Diest, E. Kuipers, 1999, Molecular pathology : MP.

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

D. Oepkes, D. Smeets, F. Jehee, 2019, American journal of human genetics.

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

M. Weiss, A. Balk, M. Slegtenhorst, 2010, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

E. Kuipers, J. Houwing-Duistermaat, T. Reinards, 2005, Journal of Medical Genetics.

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

G. Rasp, T. Stöver, K. Zerres, 2009, Cancer research.

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

H. Morreau, J. Romijn, M. Weiss, 2010, BMC Medical Genetics.

Barrett's adenocarcinomas resemble adenocarcinomas of the gastric cardia in terms of chromosomal copy number changes, but relate to squamous cell carcinomas of the distal oesophagus with respect to the presence of high‐level amplifications

E. Kuipers, G. Meijer, J. Baak, 2003, The Journal of pathology.

Detection limits of DNA copy number alterations in heterogeneous cell populations

B. Ylstra, G. Meijer, O. Krijgsman, 2013, Cellular Oncology.

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

M. Weiss, H. Dollfus, C. Tops, 2010, Ophthalmic genetics.

Rapid quantitative assessment of gastric corpus atrophy in tissue sections

E. Kuipers, G. Meijer, E. Bloemena, 2001, Journal of clinical pathology.

Helicobacter pylori‐related and ‐non‐related gastric cancers do not differ with respect to chromosomal aberrations

E. Kuipers, G. Meijer, E. Bloemena, 2000, The Journal of pathology.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

J. Rosenfeld, S. Wells, S. Mane, 2016, American journal of human genetics.

Recommendations for whole genome sequencing in diagnostics for rare diseases

N. de Leeuw, J. Belmont, J. Clayton-Smith, 2022, European Journal of Human Genetics.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

EuroGentest guidelines for diagnostic next generation sequencing

P. Bauer, M. Sturm, G. Matthijs, 2014 .

Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas.

J. Romijn, M. Weiss, A. V. D. van der Mey, 2009, Endocrine-Related Cancer.

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data

M. Reinders, Q. Waisfisz, E. Sistermans, 2017, European Journal of Human Genetics.

Recessive ITPA mutations cause an early infantile encephalopathy

Q. Waisfisz, M. Weiss, J. Bierau, 2015, Annals of neurology.

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

R. Hennekam, M. Weiss, H. Yntema, 2014, European journal of medical genetics.

Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer

C. Gilissen, M. Weiss, M. Janssen, 2022, Cancers.

Identification of Patients with (Atypical) MUTYH-Associated Polyposis by KRAS2 c.34G > T Prescreening Followed by MUTYH Hotspot Analysis in Formalin-Fixed Paraffin-Embedded Tissue

H. Morreau, T. van Wezel, M. Weiss, 2008, Clinical Cancer Research.

Identification of (atypical) MAP patients by KRAS2 c.34 G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue

M. Weiss, C. Tops, M. Nielsen, 2008 .

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

G. Vriend, G. Pals, D. Milewicz, 2015, Human mutation.

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

D. Oepkes, E. Sistermans, M. Weiss, 2017, Genetics in Medicine.

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

M. Kempers, V. Verhoeven, J. M. van de Kamp, 2017, European journal of medical genetics.

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Helger Yntema, Erika Souche, 2016, European Journal of Human Genetics.

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

D. Barge-Schaapveld, M. Weiss, J. P. van Tintelen, 2018, Molecular genetics & genomic medicine.

Determination of amplicon boundaries at 20q13.2 in tissue samples of human gastric adenocarcinomas by high‐resolution microarray comparative genomic hybridization

Bauke Ylstra, Daniel Pinkel, Marjan M Weiss, 2003, The Journal of pathology.

Complete COL1A1 allele deletions in osteogenesis imperfecta

G. Pals, H. Meijers-Heijboer, A. Plomp, 2010, Genetics in Medicine.

Quantitative assessment of gastric corpus atrophy in subjects using omeprazole: a randomized follow-up study.

E. Kuipers, G. Meijer, E. Bloemena, 2001 .

Quantitative assessment of gastric corpus atrophy in subjects using omeprazole: a randomized follow-up study

E. Kuipers, G. Meijer, E. Bloemena, 2001, American Journal of Gastroenterology.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

Genome wide array comparative genomic hybridisation analysis of premalignant lesions of the stomach

D. Pinkel, E. Kuipers, A. Snijders, 2003, Molecular pathology : MP.

Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival

D. Pinkel, D. Albertson, E. Kuipers, 2004, Cellular oncology : the official journal of the International Society for Cellular Oncology.

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

S. Nelson, P. Kwok, W. Grody, 2016, npj Genomic Medicine.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Soo-Mi Park, M. Weiss, K. Stuurman, 2014, Acta neuropathologica communications.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

R. Person, Y. Weber, M. Weiss, 2020, European journal of medical genetics.

Comparative genomic hybridisation as a supportive tool in diagnostic pathology

P. V. van Diest, E. Kuipers, G. Meijer, 2003, Journal of clinical pathology.

Genetic Alterations in Childhood Medulloblastoma Analyzed by Comparative Genomic Hybridization

F. Baas, P. Voûte, J. Baak, 2002, Journal of pediatric hematology/oncology.

Colorectal adenoma to carcinoma progression follows multiple pathways of chromosomal instability.

J. Arends, G. Meijer, J. Baak, 2002, Gastroenterology.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.

P. Devilee, S. Verhoef, M. Weiss, 2009, Endocrine-related cancer.

A novel CCM2 variant in a family with non‐progressive cognitive complaints and cerebral microbleeds

W. M. van der Flier, P. Scheltens, F. Barkhof, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Helger Yntema, Erika Souche, 2015, European Journal of Human Genetics.

Genomic imbalances defining novel intellectual disability associated loci

F. Duque, G. Oliveira, B. Ylstra, 2019, Orphanet Journal of Rare Diseases.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

J. Graham, Q. Waisfisz, D. Wieczorek, 2019, Brain : a journal of neurology.

Detection limits of DNA copy number alterations in heterogeneous cell populations

B. Ylstra, G. Meijer, O. Krijgsman, 2013, Cellular Oncology.

Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

Q. Waisfisz, M. Weiss, G. Salomons, 2021, Molecular genetics & genomic medicine.

Comparative genomic hybridization in cancer investigations.

P. V. van Diest, G. Meijer, M. Weiss, 2002, Methods in molecular biology.

Detection of chromosomal abnormalities by comparative genomic hybridization.

G. Meijer, J. Baak, M. Weiss, 2001, Methods in molecular biology.

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

M. Hestand, E. Sistermans, M. Weiss, 2018, European Journal of Human Genetics.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

T. Pandita, I. Thiffault, G. B. Schaefer, 2019, The Journal of clinical investigation.

First steps in exploring prospective exome sequencing of consanguineous couples.

H. Meijers-Heijboer, Q. Waisfisz, E. Sistermans, 2014, European journal of medical genetics.

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer

J. Klijn, M. Schutte, P. Devilee, 2010, Breast Cancer Research and Treatment.

Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer.

C. Gilissen, K. Reijnders, M. Weiss, 2023, European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology.

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

W. M. van der Flier, A. Hofman, A. Uitterlinden, 2017, European Journal of Human Genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Magalie S Leduc, H. Brunner, S. Lalani, 2018, Human mutation.

A 400 kb duplication , 2 . 4 Mb triplication and 130 kb duplication of 9 q 34 . 3 in a patient with severe mental retardation

E. Bakker, C. Ruivenkamp, M. Weiss, 2010 .

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

E. Bakker, C. Ruivenkamp, M. Weiss, 2008, European journal of medical genetics.

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data

M. Reinders, Q. Waisfisz, E. Sistermans, 2017, European Journal of Human Genetics.

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

C. Depienne, F. Saudou, C. Bacino, 2020, Nature Communications.

Microarrays—Detecting DNA Copy‐Number Changes

B. Ylstra, G. Meijer, B. Carvalho, 2004 .

Chromosomal Breakpoint Detection in Human Cancer

Elena Marchiori, Aad van der Vaart, Bauke Ylstra, 2003, EvoWorkshops.

Chromosomal changes in sporadic and familial head and neck paragangliomas

M. Weiss, M. Balbín, M. Hermsen, 2009, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review

E. Bakker, M. Weiss, M. Breuning, 2007, European Journal of Human Genetics.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Peter Devilee, Edward Blair, Jean-Pierre Bayley, 2006, BMC Medical Genetics.

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

P. Devilee, M. Losekoot, M. Weiss, 2009, BMC Medical Genetics.

Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management

M. Weiss, M. Balbín, M. Hermsen, 2010, Cellular oncology : the official journal of the International Society for Cellular Oncology.

Author ' s response to reviews Mutation analysis of SDHB and SDHC : Novel germline mutations in sporadic head and neck

P. Devilee, M. Weiss, L. Alpert, 2005 .

Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatin-assembly complex gene in pre-eclampsia.

M. van Dijk, E. Sistermans, M. Weiss, 2015, Human molecular genetics.