Clinical Genetics ▲ Sign in to save

• ▲ Frank F. Baas

  Leiden University Medical Center Neuroscience
  36.2k

  citations

  98

  h-index

  49

  Aachen papers
• ▲ Marjanka K. Schmidt

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  33.8k

  citations

  88

  h-index

  51

  Aachen papers
• ▲ Christi J. van Asperen

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  17.3k

  citations

  64

  h-index

  70

  Aachen papers
• ▲ Claudia A. L. Ruivenkamp

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  10.7k

  citations

  56

  h-index

  47

  Aachen papers
• ▲ Maartje Nielsen

  Leiden University Medical Center Medicine
  7.13k

  citations

  44

  h-index

  74

  Aachen papers
• ▲ Yvonne Hilhorst‐Hofstee

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  6.53k

  citations

  31

  h-index

  14

  Aachen papers
• ▲ Emilia K. Bijlsma

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  5.85k

  citations

  42

  h-index

  50

  Aachen papers
• ▲ Eveline M. A. Bleiker

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  4.99k

  citations

  38

  h-index

  38

  Aachen papers
• ▲ Monique Losekoot

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  4.93k

  citations

  43

  h-index

  20

  Aachen papers
• ▲ Kees Fluiter

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  3.77k

  citations

  33

  h-index

  12

  Aachen papers
• ▲ Emmelien Aten

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.7k

  citations

  22

  h-index

  12

  Aachen papers
• ▲ Jeroen Knijnenburg

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.56k

  citations

  28

  h-index

  18

  Aachen papers
• ▲ Hermine A. van Duyvenvoorde

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.2k

  citations

  22

  h-index

  28

  Aachen papers
• ▲ Daniela Q.C.M. Barge‐Schaapveld

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.18k

  citations

  25

  h-index

  51

  Aachen papers
• ▲ Manon Suerink

  Leiden University Medical Center Medicine
  1.22k

  citations

  20

  h-index

  34

  Aachen papers
• ▲ Tamara T. Koopmann

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  1.16k

  citations

  15

  h-index

  31

  Aachen papers
• ▲ Thomas P. Potjer

  Leiden University Medical Center Medicine
  1.16k

  citations

  15

  h-index

  20

  Aachen papers
• ▲ Sahila Balkassmi

  Leiden University Medical Center Medicine
  1.01k

  citations

  6

  h-index

  1

  Aachen papers
• ▲ Diantha Terlouw

  Leiden University Medical Center Medicine
  284

  citations

  10

  h-index

  26

  Aachen papers
• ▲ Lily Sensuk

  Leiden University · Leiden University Medical Center Medicine
  24

  citations

  2

  h-index

  3

  Aachen papers
• ▲ Hristina Hristova

  Leiden University · Leiden University Medical Center Medicine
  24

  citations

  2

  h-index

  2

  Aachen papers
• ▲ TT Koopmann

  Leiden University Medical Center Medicine
  0

  citations

  0

  h-index

  2

  Aachen papers

22 results

• Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

  2021 JAMA Neurology article Medicine Amyotrophic Lateral Sclerosis Research Open access

  85

  citations
• Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology

  2020 Journal of Medical Genetics article Medicine Cardiomyopathy and Myosin Studies Open access

  39

  citations
• Development of a patient decision aid for patients with breast cancer who consider immediate breast reconstruction after mastectomy

  2021 Health Expectations article Health Professions Patient-Provider Communication in Healthcare Open access

  27

  citations
• De novo variants in ATP2B1 lead to neurodevelopmental delay

  2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  25

  citations
• Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

  2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  18

  citations
• Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas

  2020 Journal of Clinical Pathology article Medicine Genetic factors in colorectal cancer Open access

  18

  citations
• Growth of the aortic root in children and young adults with Marfan syndrome

  2022 Open Heart article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access

  8

  citations
• Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia

  2025 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  5

  citations
• Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

  2022 Human Molecular Genetics article Medicine Cardiac electrophysiology and arrhythmias Open access

  5

  citations
• The Added Value of Blood Glucose Monitoring in High-Risk Individuals Undergoing Pancreatic Cancer Surveillance

  2024 Pancreas article Medicine Pancreatic and Hepatic Oncology Research Open access

  2

  citations
• Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Cardiac electrophysiology and arrhythmias Open access

  1

  citations
• Risk of subsequent in situ and invasive lesions after a primary diagnosis of ductal carcinoma in situ with follow-up time up to 28 years

  2020 European Journal of Cancer article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies

  0

  citations
• Contralateral breast cancer in patients with ductal carcinoma in situ and invasive breast cancer in the Netherlands

  2020 European Journal of Cancer article Medicine Multiple and Secondary Primary Cancers Open access

  0

  citations
• Recurrent variant of unknown significance in KCNH2 classified through functional characterisation

  2022 EP Europace article Medicine Cardiac electrophysiology and arrhythmias

  0

  citations
• Therapeutic inhibition of complement component 5 does not reduce NASH progression but does attenuate atherosclerosis development in Ldlr-/-.Leiden mice

  2022 Journal of Hepatology article Medicine Liver Disease Diagnosis and Treatment

  0

  citations
• 161P Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

  2024 ESMO Open article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  0

  citations
• Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease

  2026 Journal of Medical Genetics article Neuroscience Genetic Neurodegenerative Diseases

  0

  citations
• PDGFR-beta variant as a causal driver of myxomatous mitral valve degeneration

  2026 Cardiovascular Research article Medicine Cardiac Valve Diseases and Treatments

  0

  citations

18 results