Susan White

Elements of morphology: Standard terminology for the trunk and limbs.

Leslie G Biesecker, Margaret P Adam, Brian Hon-Yin Chung, Kenjiro Kosaki, Leonie A Menke, Susan M White, John C Carey, Raoul CM Hennekam

Journal article  |  2022  |  Am J Med Genet A

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to desc..

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

William Dufour, Salem Alawbathani, Anne-Sophie Jourdain, Maria Asif, Geneviève Baujat, Christian Becker, Birgit Budde, Lyndon Gallacher, Theodoros Georgomanolis, Jamal Ghoumid, Wolfgang Höhne, Stanislas Lyonnet, Iman Ali Ba-Saddik, Sylvie Manouvrier-Hanu, Susanne Motameny, Angelika A Noegel, Lynn Pais, Clémence Vanlerberghe, Prerana Wagle, Susan M White, et al.

Journal article  |  2022  |  Genet Med

PURPOSE: LEF1 encodes a transcription factor acting downstream of the WNT-β-catenin signaling pathway. It was recently suspected a..

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, et al.

Journal article  |  2022  |  HGG Adv

CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein kinase II (CK2), which is known to media..

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Elizabeth E Palmer, Katherine B Howell

Journal article  |  2022  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). MET..

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Ilias Goranitis, You Wu, Sebastian Lunke, Susan M White, Tiong Y Tan, Alison Yeung, Matthew F Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: To evaluate whether the additional cost of providing increasingly faster genomic results in pediatric critical care is ou..

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Sarah EM Stephenson, Gregory Costain, Laura ER Blok, Michael A Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E Alhuzaimi, James J Dowling, Susan Walker, Kimberly Amburgey, Robin Z Hayeems, Lance H Rodan, Marc A Schwartz, Jonathan Picker, Sally A Lynch, Aditi Gupta, Kristen J Rasmussen, Lisa A Schimmenti, Eric W Klee, Zhiyv Niu, et al.

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function..

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas, Zeynep Demir, Christopher T Gordon, Sylvain Breton, Vanessa L Romanelli Tavares, Hugo Moisset, Roseli Zechi-Ceide, Nancy M Kokitsu-Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung, Nicole Revencu, Daphne Lehalle, Florence Petit, Evan J Propst, Blake C Papsin, John H Phillips, et al.

Journal article  |  2022  |  HUMAN MUTATION

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at ..

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease

Stephanie Best, Nada Vidic, Kim An, Felicity Collins, Susan M White

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Place plays a significant role in our health. As genetic/genomic services evolve and are increasingly seen as mainstream, especial..

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Nicole J Van Bergen, Daniella H Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M Ryan, Colleen D'Arcy, Margot Nash, Sile Smith, Nikeisha J Caruana, David R Thorburn, et al.

Journal article  |  2022  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-r..