OOIR: Observatory of International Research

Papers

(The H4-Index of Clinical Genetics is 23. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)

Article	Citations
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE	73
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center	65
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review	40
A review on age‐related cancer risks in PTEN hamartoma tumor syndrome	39
Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review	37
Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes	32
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome	31
New insight into the role of substance P/neurokinin‐1 receptor system in breast cancer progression and its crosstalk with microRNAs	29
Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects	29
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature	28
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology	28
A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family	28
Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella	26
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility	26
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease	25
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late	25
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome	25
Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort	25
The Thai reference exome (T‐REx) variant database	24
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice	23
Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa	23
Prenatal exome sequencing in fetuses with congenital heart defects	23
Premature aging disorders: A clinical and genetic compendium	23