M. Jongmans

发表

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

Genetics and Variation in Phenotype in Noonan Syndrome

B. Otten, I. van der Burgt, K. Noordam, 2004, Hormone Research in Paediatrics.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.

I. Nagtegaal, A. Eijkelenboom, M. Ligtenberg, 2020, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

H. Brunner, L. Hoefsloot, A. Magee, 2008, American journal of medical genetics. Part A.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

A. V. van Kessel, R. Kuiper, M. Ligtenberg, 2010, Genes, chromosomes & cancer.

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

L. Hoefsloot, B. Wolffenbuttel, C. V. van Ravenswaaij-Arts, 2012, The Journal of clinical endocrinology and metabolism.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline

A. Taylor, N. Roeleveld, G. Janssens, 2016, Clinical genetics.

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

R. Hofstra, L. Hoefsloot, R. Hofstra, 2011, Journal of Medical Genetics.

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.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

L. Hoefsloot, W. Crowley, T. Ogata, 2009, Clinical genetics.

Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

H. Scheffer, W. Nillesen, H. Yntema, 2013, Molecular Syndromology.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus suggestions for testing a child without malignancy

L. Messiaen, K. Wimmer, E. Legius, 2020 .

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

J. Houwing-Duistermaat, David Evans, S. Nikolaev, 2019, Genetics in Medicine.