Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Autor: Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

Publikováno v: HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)

Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases th

Externí odkaz: https://doaj.org/article/08f67d5e060d475c83319e61695d173d

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Autor: Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues

Publikováno v: Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins

PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

Autor: Cynthia M. Powell, Kathleen Wallace, Arthur S. Aylsworth, Natasha T. Strande, Laura V. Milko, Jonathan S. Berg, Myra I. Roche, Bradford C. Powell, Stephanie B. Crowley, Muge Gucsavas-Calikoglu, Dianne M. Frazier, Julianne M. O’Daniel, Daniela M. DeCristo, Lonna Mollison, Ann Katherine M. Foreman, Neeta L. Vora, Zahra S. Girnary, Lacey Boshe

Publikováno v: J Pediatr

Objective To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods. Study design The Nor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da96e7867c918d93f90b15bcb7dbd224
https://doi.org/10.1016/j.jpeds.2018.12.027

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Autor: Arthur S. Aylsworth, Kathryn M. Shively, Kati J. Buckingham, Mariam Al-Mulla, Paul M.L. Janssen, Periyasamy Radhakrishnan, Julien Fauré, Klaus Dieterich, Deborah A. Nickerson, Tawfeg Ben-Omran, Francesca Inzana, Emily M Teets, Yline Capri, Xenia Latypova, David M. Warshaw, Tamar Harel, Brit L. Martin, Ulrich A. Schatz, Katta M. Girisha, Sharon L. Amacher, Michael J. Bamshad, Reem Saadeh-Haddad, John Rendu, Hagar Mor-Shaked, Colby T. Marvin, Anju Shukla, Shalini S. Nayak, Samantha Beck Previs, Jessica X. Chong, Fatima Almusafri, Jared C. Talbot

Publikováno v: Am J Hum Genet

We identified ten persons in six consanguineous families with Distal Arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b23bc28fe1f7737e218e54ee40affc
https://europepmc.org/articles/PMC7413889/

Response to Hall et al

Autor: Tawfeg Ben-Omran, Xenia Latypova, Jared C. Talbot, Reem Saadeh-Haddad, Julien Fauré, Mariam Al-Mulla, Jessica X. Chong, Arthur S. Aylsworth, Kati J. Buckingham, John Rendu, Fatima Almusafri, Yline Capri, Brit L. Martin, Deborah A. Nickerson, Emily M Teets, Francesca Inzana, Paul M.L. Janssen, Shalini S. Nayak, Sharon L. Amacher, Klaus Dieterich, David M. Warshaw, Katta M. Girisha, Colby T. Marvin, Periyasamy Radhakrishnan, Kathryn M. Shively, Ulrich A. Schatz, Tamar Harel, Hagar Mor-Shaked, Michael J. Bamshad, Anju Shukla, Samantha Beck Previs

Publikováno v: The American Journal of Human Genetics. 107:1188-1189

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ffc18cde37683aaf474199a44241613d
https://doi.org/10.1016/j.ajhg.2020.11.006