Publications by authors named "Saskia Bulk"

Claim this Profile
H
Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.
Charlotte Mouraux, Claire Fouquet, Keith Durkin, Vinciane Dideberg, Saskia Bulk

Tremor Other Hyperkinet Mov (N Y)· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Population-based, first-tier genomic newborn screening in the maternity ward.
François Boemer, Kristine Hovhannesyan, Flavia Piazzon, Frédéric Minner, Myriam Mni, Saskia Bulk

Nat Med· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Diagnostic algorithm of fetal sex discordance in the era of genomic NIPT : clinical illustration and practical recommendation].
Sophie Lorquet, Camille Chatelain, Marie Laterre, Julie Fudvoye, Alix Senterre, Saskia Bulk

Rev Med Liege· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
Camille Chatelain, Léna Kukor, Sophie Bailleux, Vincent Bours, Saskia Bulk

Eur J Med Genet· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic findings with familial implications: agenda setting in light of mainstreaming.
Amicia Phillips, Eva Van Steijvoort, Maria Siermann, Janneke M L Kuiper, Álvaro Mendes, Saskia Bulk

Open Res Eur· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Solitary kidney in a patient with Pallister-Hall syndrome.
Ines Vanderheyden, Saskia Bulk, François Jouret

Kidney Int· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Saskia Bulk

Int J Mol Sci· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy.
Joachim Levaux, Nesrine Farhat, Lieve Van Casteren, Saskia Bulk, Marie-Christine Seghaye

Clin Pract· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Saskia Bulk

Genet Med· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T Bjornsson, Saskia Bulk

Genet Med· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, François Boemer, Saskia Bulk

Obstet Gynecol· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Saskia Bulk

Brain· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk

Prenat Diagn· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Dineke Westra, Meyke I Schouten, Bas C Stunnenberg, Benno Kusters, Christiaan G J Saris, Saskia Bulk

J Neuromuscul Dis· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Christoph Bachmann, Faiza Noreen, Nicol C Voermans, Primo L Schär, John Vissing, Saskia Bulk

Hum Mutat· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk

Prenat Diagn· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Tim Van Damme, Xiaomeng Pang, Brecht Guillemyn, Sandrine Gulberti, Delfien Syx, Saskia Bulk

Hum Mol Genet· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1.
Christophe Barrea, Sandrine Vaessen, Saskia Bulk, Julie Harvengt, Jean-Paul Misson

Neuropediatrics· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Olivier Vanakker, Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Saskia Bulk

Eur J Med Genet· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Xenia L Stalpers, Aad Verrips, Bwee Tien Poll-The, Jan-Maarten Cobben, Irina N Snoeck, Saskia Bulk

Neuromuscul Disord· June 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Saskia Bulk

Am J Hum Genet· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Frequently asked questions on epilepsy, pregnancy and lactation: a EURAP-NL report.
Anca E Rapcencu, Dick Lindhout, Saskia Bulk

Seizure· October 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of 14 triage strategies for HPV DNA-positive women in population-based cervical screening.
Dorien C Rijkaart, Johannes Berkhof, Folkert J van Kemenade, Veerle M H Coupe, Albertus T Hesselink, Saskia Bulk

Int J Cancer· February 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation update for the PORCN gene.
Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T Gabbett

Hum Mutat· July 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
Nicole de Leeuw, Saskia Bulk, Andrew Green, Lane Jaeckle-Santos, Linda A Baker

Am J Med Genet A· December 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis