High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data [0.03%]
Andrew M George,Bamelak T Duki,Zoe S Katz et al.
Andrew M George et al.
WAGR spectrum disorder (WAGRSD) is an ultra-rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays,...
A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients [0.03%]
Siew Li Ting,John Bassett,Jonathan Meyer et al.
Siew Li Ting et al.
Fumarase deficiency (FMRD) is a rare autosomal recessive disorder caused by fumarate hydratase (FH) deficiency, with variable presentation from severe early-onset encephalopathy to mild cognitive impairment. Heterozygous carriers of some va...
The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families [0.03%]
Carly A Rasmussen,Monika Izdebski,Allison Paltzer et al.
Carly A Rasmussen et al.
Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes meas...
Identification of a Novel AMER1 Variant and Craniofacial Phenotypic Spectrum in Osteopathia Striata with Cranial Sclerosis [0.03%]
Qing Chen,Xin Wang,Nianke Liu et al.
Qing Chen et al.
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder mediated by variants in the AMER1 gene, characterized primarily by generalized skeletal sclerosis and striated changes. However, research on its ...
Caitlin N Harrington,Emily Kohl,Zainab Gilitwala et al.
Caitlin N Harrington et al.
CBL syndrome is a RASopathy with phenotypic variability including neurodevelopmental differences, cardiac defects, growth delay, dysmorphic and cutaneous findings, hematologic, immunologic, and vascular manifestations, and predisposition to...
The Society for Craniofacial Genetics and Developmental Biology 48th Annual Meeting [0.03%]
第48届头面遗传与发育生物学学会年会
Kristin B Artinger,Katherine A Fantauzzo,Amy E Merrill et al.
Kristin B Artinger et al.
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 48th Annual Meeting at the University of Minnesota in Minneapolis on September 29-October 1, 2025. On the first day of the meeting, Drs. Timothy Cox and Jennif...
Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism [0.03%]
TRAPP基因簇1031-1159变异的两名患者的长期随访：具有或不具有畸形面容和自闭症的发育迟缓表型的扩展
Roseli Maria Zechi-Ceide,Vinicius Contrucci Dantas Segarra,Siulan Vendramini-Pittoli et al.
Roseli Maria Zechi-Ceide et al.
The transformation/transcription domain-associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (...
Co-Occurring Non-Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects [0.03%]
伴有先天性心脏病患者的非心脏先天性异常共病分析
Claude Stoll,Yves Alembik,Marie-Paule Roth
Claude Stoll
Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co-occurring anomalies in CHD in a well-defined population. The anomalies co-occurr...
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline [0.03%]
涉及2q31.1的新发复杂基因组重排的从头复杂基因组重组谱系2q31.1：先天畸形患者的基因型表型相关性及CGR检测流程的发展
Katherine Helle,Jesse D Bengtsson,Mira Gandhi et al.
Katherine Helle et al.
The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Geno...
Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort [0.03%]
外显子组测序揭示膈疝的基因组病因：560例先证者的致病突变及独立队列验证
Justin Blair,Kevin Carratu,Natalie E Rintoul et al.
Justin Blair et al.
There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of e...