[HTML][HTML] GAVIN: Gene-Aware variant interpretation for medical sequencing

…, B Sikkema-Raddatz, KM Abbott, A Knopperts… - Genome biology, 2017 - Springer
We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately
classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific …

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature …

AP Knopperts, M Nielsen, RC Niessen, CMJ Tops… - Familial Cancer, 2013 - Springer
In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic
testing because of early-onset disease and/or a positive family history, typically undergo …

Risk of recurrence of mood disorders during pregnancy and the impact of medication: a systematic review

…, PJJ Goossens, EAM Knoppert-van der Klein… - Journal of affective …, 2019 - Elsevier
Background Mood disorders can be difficult to treat during pregnancy. There is still lack of
evidence whether pregnancy influences their natural course and whether continuation of …

[HTML][HTML] Cellular senescence and the kidney: potential therapeutic targets and tools

SN Knoppert, FA Valentijn, TQ Nguyen… - Frontiers in …, 2019 - frontiersin.org
Chronic kidney disease (CKD) is an increasing health burden (affecting approximately 13.4%
of the population). Currently, no curative treatment options are available and treatment is …

[HTML][HTML] The clinical spectrum of microcystic macular edema

…, J Trieu, WAEJ de Vries-Knoppert… - … & visual science, 2014 - iovs.arvojournals.org
Purpose.: Microcystic macular edema (MME), originally described in British literature as
microcystic macular oedema (MMO), defines microcysts in the inner nuclear layer (INL) of the …

Effect of domperidone on milk production in mothers of premature newborns: a randomized, double-blind, placebo-controlled trial

OP da Silva, DC Knoppert, MM Angelini, PA Forret - Cmaj, 2001 - Can Med Assoc
Background: Varying degrees of success have been reported with strategies to increase
milk production when lactation is failing. The objective of this study was to investigate the …

Family caregiving in bipolar disorder: caregiver consequences, caregiver coping styles, and caregiver distress

…, EAM Knoppert-Van Der Klein… - … Journal of Social …, 2008 - journals.sagepub.com
Aims: This study investigated the consequences caregivers of outpatients with bipolar
disorder are confronted with, the distress they experience and their coping styles. Methods: …

[HTML][HTML] Fetal, neonatal and developmental outcomes of lithium-exposed pregnancies

…, IL van Kamp, EAM Knoppert-van der Klein… - Early human …, 2012 - Elsevier
INTRODUCTION: Many women with a bipolar disorder are of reproductive age and will need
to continue lithium treatment during pregnancy. The teratogenic and perinatal effects of …

Enoxaparin for neonatal thrombosis: a call for a higher dose for neonates

JI Malowany, P Monagle, DC Knoppert, DSC Lee… - Thrombosis research, 2008 - Elsevier
INTRODUCTION: Enoxaparin is the current anticoagulant of choice for neonatal thrombosis.
Present neonatal treatment guidelines of 1.5 mg/kg every 12 hours (q12 h) are extrapolated …

The effect of two different domperidone doses on maternal milk production

DC Knoppert, A Page, J Warren… - Journal of Human …, 2013 - journals.sagepub.com
Background: The benefits of breast milk to the newborn infant are well established. The
Canadian Paediatric Society recommends exclusive breastfeeding for the first 6 months of life for …