Skip to main content
Features
Assistant
AI grounded in research
Search
Full-text citation search
Collections
Organize and monitor papers
All Features →
Integrations
MCP
Connect AI agents to Scite
API
Programmatic data access
Holdings
Full-text via your library
Zotero Plugin
Citation data in Zotero
Browser Extension
Citation badges anywhere
All Integrations →
Data
Rankings
Pricing
Log In
Start Free Trial
Features
Assistant
AI grounded in research
Search
Full-text citation search
Collections
Organize and monitor papers
All Features →
Integrations
MCP
Connect AI agents to Scite
API
Programmatic data access
Holdings
Full-text via your library
Zotero Plugin
Citation data in Zotero
Browser Extension
Citation badges anywhere
All Integrations →
Data
Rankings
Pricing
Log In
Start Free Trial
Christine de Die‐Smulders
Sign up to set email alerts
230
Publications
6,337
Citation Statements Received
5,779
Citation Statements Given
How they've been cited
7,766
275
6,022
40
How they cite others
7,328
249
5,497
33
Affiliations
Maastricht University Medical Centre
,
Maastricht University
Publications
Order By: Most citations
Biallelic Inactivation of
BRCA2
in Fanconi Anemia
Howlett
1
,
Taniguchi
2
,
Olson
3
et al.
2002
Science
Abstract
Show
1,125
13
811
3
Get access via publisher
Add to collection
Cite
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
van der Meij
1
,
Sistermans
2
,
Macville
3
et al.
2019
The American Journal of Human Genetics
Abstract
Show
387
34
430
7
Get access via publisher
Add to collection
Cite
The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly
Nanni
1
,
Ming
2
,
Bocian
3
et al.
1999
Human Molecular Genetics
Abstract
Show
368
12
292
2
Get access via publisher
Add to collection
Cite
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
Simón‐Sánchez
1
,
Dopper
2
,
Cohn‐Hokke
3
et al.
2012
Abstract
Show
268
23
248
1
Get access via publisher
Add to collection
Cite
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients
Braida
1
,
Stefanatos
2
,
Adam
3
et al.
2010
Abstract
Show
164
11
201
4
Get access via publisher
Add to collection
Cite
Age and causes of death in adult-onset myotonic dystrophy
de Die‐Smulders
1
1998
Abstract
Show
256
10
171
1
Get access via publisher
Add to collection
Cite
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
Hoornaert
1
,
Vereecke
2
,
Dewinter
3
et al.
2010
Eur J Hum Genet
Abstract
Show
154
5
165
0
1
Get access via publisher
Add to collection
Cite
Early onset collagen VI myopathies: Genetic and clinical correlations
Briñas
1
,
Richard
2
,
Quijano‐Roy
3
et al.
2010
Annals of Neurology
Abstract
Show
134
12
151
4
Get access via publisher
Add to collection
Cite
1
2
3
4
5