Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Lauren Jeffries"'
Autor:
Bilal Azab, Dunia Aburizeg, Sherin T. Shaaban, Weizhen Ji, Lina Mustafa, Nooredeen Jamal Isbeih, Amal Saleh Al-Akily, Hashim Mohammad, Lauren Jeffries, Mustafa Khokha, Saquib A. Lakhani, Iyad Al-Ammouri
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan. We sought to uncover the genetic land
Externí odkaz:
https://doaj.org/article/5f67b5f0f24440549110a09f99d7af09
Autor:
Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji, Emily K. Mis, Joshua Tijerino, Michele Spencer-Manzon, Lauren Jeffries, E. Kevin Hall, David Panisello-Manterola, Mustafa K. Khokha, Engin Deniz, P. Bryant Chase, Saquib A. Lakhani, Jose Renato Pinto
Publikováno v:
Frontiers in Physiology, Vol 10 (2020)
Familial dilated cardiomyopathy (DCM), clinically characterized by enlargement and dysfunction of one or both ventricles of the heart, can be caused by variants in sarcomeric genes including TNNC1 (encoding cardiac troponin C, cTnC). Here, we report
Externí odkaz:
https://doaj.org/article/d54c1495d9574db285c1dbf940168414
Autor:
Samir Al‐Ali, Lauren Jeffries, E. Vincent S. Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong‐hui Jiang, Michele Spencer‐Manzon, Allen Bale, Hui Zhang, Julie McGlynn, James M. McGrath, Thierry Tremblay, Nina N. Brodsky, Carrie L. Lucas, Richard Pierce, Engin Deniz, Mustafa K. Khokha, Saquib A. Lakhani
Publikováno v:
American Journal of Medical Genetics Part A. 188:2869-2878
The Pediatric Genomics Discovery Program (PGDP) at Yale uses next-generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic diseases. We conducted a retrospectiv
Autor:
Alexander C. Bertalovitz, Weizhen Ji, Thomas V. McDonald, Jorge McCormack, Emily Sempou, Lauren Jeffries, Maliheh Najari Beidokhti, Mustafa K. Khokha, Saquib A. Lakhani
Publikováno v:
Molecular Genetics and Genomics. 296:823-836
Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific tar
Autor:
Mustafa K. Khokha, Thomas Mitzelfelt, Monica Konstantino, Weizhen Ji, Tracy Cartwright, Emily K Mis, Annalisa G Sega, Stanley F. Nelson, Hane Lee, Lauren Jeffries, Elysa J. Marco, Martin G. Martin, Christina G.S. Palmer, Rebecca Signer, Saquib A. Lakhani, Julian A. Martinez-Agosto
Publikováno v:
Am J Med Genet A
De novo heterozygous variants in the brain-specific transcription factor Neuronal Differentiation Factor 2 (NEUROD2) have been recently associated with early-onset epileptic encephalopathy and developmental delay. Here, we report an adolescent with d
Autor:
Emily K Mis, Mustafa K. Khokha, Weizhen Ji, Lauren Jeffries, Saquib A. Lakhani, Monica Konstantino, Michele Spencer-Manzon, Samir Al-Ali
Publikováno v:
American Journal of Medical Genetics Part A. 182:2291-2296
Recessive variants in the GLDN gene, which encodes the gliomedin protein and is involved in nervous system development, have recently been associated with Arthrogryposis Multiplex Congenita (AMC), a heterogenous condition characterized by congenital
Autor:
Eugen Widmeier, Raffaella A. Morotti, Emily K Mis, Velibor Tasic, Kathya Arana, Jonathan Marquez, Monica Konstantino, Julia Baptista, Mustafa K. Khokha, Charu Deshpande, Julie A. McGlynn, Hannah Hugo, Saquib A. Lakhani, Martin Konrad, Friedhelm Hildebrandt, Nina Mann, Lauren Jeffries, Weizhen Ji, Sian Ellard, Engin Deniz
Publikováno v:
Journal of Medical Genetics
BackgroundCilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-know
Autor:
James L. McGrath, Leina Alrabadi, Arik Alper, Lauren Jeffries, Anthony F. Porto, Debra Okafor
Publikováno v:
Clinical Pediatrics. 58:707-710
Autor:
Corinne Beurrier, Karen Runge, Sylvie Giacuzz, Rémi Mathieu, Saadet Mercimek-Andrews, Laurent Fasano, Nenad Sestan, Sandra Goebbels, Antoinette Gelot, Lauren Jeffries, Gabriel Santpere, Jill A. Rosenfeld, Carlos Cardoso, Dina Amrom, Candace Gamble, Stéphane Bugeon, Chana Ratner, Antoine de Chevigny, Harold Cremer, Sahra Lafi, Audrey Van Hecke, Kristin Lindstrom, Arie van Haeringen, Sébastien Küry, Emilie Pallesi-Pocachard, Eva Hudson, Olivier Vanakker, Léonard Hérault, Arthur Loubat, Andreas Bosio, Bernard Jacq, Aurélie Montheil, Belen Lorente-Galdos, Fabienne Schaller, Stephane Gaillard, Surajit Sahu, Alfonso Represa, Reena Jethva
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 2021, ⟨10.1038/s41380-021-01179-x⟩
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01179-x⟩
Molecular Psychiatry, 26. SPRINGERNATURE
Molecular psychiatry
Molecular Psychiatry, 2021, ⟨10.1038/s41380-021-01179-x⟩
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01179-x⟩
Molecular Psychiatry, 26. SPRINGERNATURE
Molecular psychiatry
While the transcription factor NEUROD2 has recently been associated with epilepsy, its precise role during nervous system development remains unclear. Using a multi-scale approach, we set out to understand how Neurod2 deletion affects the development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1084c38c4e5bf87f9bcd9a2c9ebef1f0
https://hal-amu.archives-ouvertes.fr/hal-03328734
https://hal-amu.archives-ouvertes.fr/hal-03328734
Autor:
Maliheh, Najari Beidokhti, Alexander C, Bertalovitz, Weizhen, Ji, Jorge, McCormack, Lauren, Jeffries, Emily, Sempou, Mustafa K, Khokha, Thomas V, McDonald, Saquib A, Lakhani
Publikováno v:
Molecular genetics and genomics : MGG. 296(4)
Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific tar