Jennifer Tarpinian

Molecular Diagnostic Outcomes from 700 Cases

Jill R. Murrell, Addie Nesbitt, Samuel W. Baker, Kieran B. Pechter et autres

Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic alterations contributing to disease in 700 pediatric cases analyzed at the Children's Hospital of Philadelphia. The overall diagnostic yield …

us, it (code pays fourni par la source)

Nonlethal presentations of CYP26B1 ‐related skeletal anomalies and multiple synostoses syndrome

Katheryn Grand, Cara Skraban, Jennifer L. Cohen, Leah Dowsett et autres

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies caused …

us (code pays fourni par la source)

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raúl Torres, Rotem Ben‐Shachar et autres

BACKGROUND: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by …

de, us (code pays fourni par la source)

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga‐Jauregui, Sirinart Molidperee et autres

ca, us, fr, in, it, au, ve, tr, es (code pays fourni par la source)

A Centralized Approach for Practicing Genomic Medicine

Sawona Biswas, Līvija Medne, Batsal Devkota, Emma Bedoukian et autres

Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there remain several challenges in its widespread implementation. Barriers such as lack of infrastructure or expertise within local health systems and complex result interpretation …

de, us, it (code pays fourni par la source)

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raúl Torres, Rotem Ben‐Shachar et autres

Abstract Background Severity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically available ECS panel. We then mapped …

de, us (code pays fourni par la source)

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

Grand K, Christina X Gonzalez-Gandolfi, Ackermann AM, Deema Aljeaid et autres

This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.

A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

Nolwenn Jean‐Marçais, Heather E. Olson, Edward Yang, D. Héron et autres

fr, us, gb, nl, kr (code pays fourni par la source)

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau et autres

fr, ca, gb, au, us, no, se, nl (code pays fourni par la source)

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

Katheryn Grand, Christina X Gonzalez-Gandolfi, Amanda M. Ackermann, Deema Aljeaid et autres

Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features and intellectual disability caused by haploinsufficiency of the NSD1 gene. Genotype-phenotype correlations have been observed, with major anomalies seen more frequently in patients with 5q35 deletions than those with point mutations …

us, sa (code pays fourni par la source)

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia et autres

us, ca, nl, es, au, gb, fr (code pays fourni par la source)

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter et autres

Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery of novel gene-disease and variant-disease associations are expected to increase the diagnostic yield of CES. Performing systematic reanalysis of previously nondiagnostic CES …

us, de (code pays fourni par la source)