Annabelle Tuttle

O47: Utilization and impact of exome and genome sequencing by non-genetics providers

Michelle M. Morrow, Bobbi McGivern, Erin Torti, Olivia L Redlich et autres

Over the last five years, exome and genome sequencing (ES/GS) have become increasingly integral to medical care. Current research and guidelines recommend ES/GS as a first-tier test for multiple indications, including epilepsies, multiple congenital anomalies, intellectual disability, and global developmental delay. While …

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Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer et autres

Objective: Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods: We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical …

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati et autres

Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct variants in PSMC5, encoding the AAA⁺ ATPase subunit PSMC5/RPT6, in individuals with …

fr, ie, nl, de, ca, us, cn, me, au, ch, am, cz, il, gb, es (code pays fourni par la source)

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

Florence Desprez, Solène Remizé, Liberty François‐Moutal, Dévina C. Ung et autres

Neurodevelopmental disorders (NDD) with brain malformations have recently been associated with de novo variants in the DPYSL5 gene, which encodes a member of the dihydropyrimidinase-like proteins family. Here, we aimed to understand its role in NDD by characterizing novel or recurrent de …

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

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Eva Berger, Robin‐Tobias Jauss, Judith D. Ranells, Emir Zonic et autres

PURPOSE: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to …

de, us, sa, cl, au, fr, ca, lu, gb, do, in, be (code pays fourni par la source)

Retrospective comparison of thyroid hormones in Steller sea lions Eumetopias jubatus under professional care with and without thyroid disease

A. Fontem Lum, TC Weisbrod, S. Jacob, Ramiro Isaza et autres

An evaluation of morbidity and mortality in Steller sea lions (SSLs) Eumetopias jubatus under professional care identified a high prevalence of thyroid disease in aged animals. While studies have investigated the effects of age, season, nutrition, stressors, and pollutants on thyroid hormones …

us, ca (code pays fourni par la source)

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin et autres

BACKGROUND: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative …

ch, it, ru, us, ca, de, nl, no, fr, si, fi (code pays fourni par la source)

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E. Stanton, Geeske van Woerden, Tzung‐Chien Hsieh et autres

Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study, we identified 23 unique variants in PSMC5 , which encodes the AAA-ATPase …

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin et autres

Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative …

ch, it, de, us, nl, no, fr, si, fi (code pays fourni par la source)

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung‐Chien Hsieh et autres

Abstract Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study, we identified 23 unique variants in PSMC5 , which encodes the …

fr, ie, nl, de, ca, us, cn, me, ch, am, cz, il, gb, es, gr (code pays fourni par la source)

An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder

Tooba Shafiq, Lindsay A. Phillips, Kara Murias, Marcia Ferguson et autres

Disruption of genes within the HNRNP gene family has been observed in neurodevelopmental and neurodegenerative diseases . The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs), while each unique, have been recently described with similar clinical and molecular features across variation in several genes. However, the …

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Three cases of gastric prolapse through the gill slit in sand tiger sharks, Carcharhinus taurus (Rafinesque)

Annabelle Tuttle, O Burrus, M. A. BURKART, P W Scott et autres

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