Associated Papers
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.
Mokhtari A et al.
Clinical Genetics, 2026
Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.
Kovács E et al.
Genes, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome.
Li A et al.
Biorxiv : the Preprint Server for Biology, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A et al.
International Journal of Molecular Sciences, 2025
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Kritzer A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causality.
Byrjalsen A et al.
Journal of Gastrointestinal Oncology, 2024
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.
Yılmaz M et al.
Molecular Syndromology, 2024
Expanded targeted preconception screening panel in Israel: findings and insights.
Reches A et al.
Journal of Medical Genetics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions.
Hannah WB et al.
Genetics in Medicine Open, 2024
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Drexler KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF et al.
Molecular Syndromology, 2023
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J et al.
Nature Reviews. Genetics, 2023
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM et al.
Npj Genomic Medicine, 2022
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.
Farkas MH et al.
Molecular Vision, 2022
A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9.
Sirokha D et al.
Biology, 2021
Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis.
Anderson RH et al.
Cell Reports, 2021
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Różdżyńska-Świątkowska A et al.
Journal of Applied Genetics, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
Koczok K et al.
Biomolecules, 2021
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Altered Cholesterol Biosynthesis Affects Drug Metabolism.
Genaro-Mattos TC et al.
Acs Omega, 2021
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.
Zaidi AH et al.
Children (basel, Switzerland), 2021