Use the journals feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up
Journals
Genetics in Medicine : Officia...
Genetics in Medicine : Official Journal of the American College of Medical Genetics
#1
JOURNAL ARTICLE
Maria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, Judith Haasters, Kerstin Becker, Birgit Budde, Christian Becker, Holger Thiele, Shahid M Baig, María Isidoro-García, Dominic Winter, Hans-Martin Pogoda, Sajjad Muhammad, Matthias Hammerschmidt, Florian Kraft, Ingo Kurth, Hilario Gomez Martin, Matias Wagner, Peter Nürnberg, Muhammad Sajid Hussain
PURPOSE: Neurodevelopmental disorders exhibit clinical and genetic heterogeneity, ergo manifest dysfunction in components of diverse cellular pathways; the precise pathomechanism for the majority remains elusive. METHODS: We studied five affected individuals from three unrelated families manifesting global developmental delay, postnatal microcephaly, and hypotonia. We employed exome sequencing and prioritized variants that were subsequently characterized using immunofluorescence, immunoblotting, pulldown assays, and RNA sequencing...
April 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#2
JOURNAL ARTICLE
Precilla D'Souza, Cristan Farmer, Jean M Johnston, Sangwoo T Han, David Adams, Adam L Hartman, Wadih Zein, Laryssa A Huryn, Beth Solomon, Kelly King, Christopher P Jordan, Jennifer Myles, Elena-Raluca Nicoli, Caroline E Rothermel, Yoliann Mojica Algarin, Reyna Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, Ashura Buckley, Carmen Brewer, Debra S Regier, Brian P Brooks, Maria T Acosta, Eva H Baker, Gilbert Vézina, Audrey Thurm, Cynthia J Tifft
PURPOSE: GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments. METHODS: Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study. RESULTS: Classification of 37 distinct variants using ACMG criteria resulted in the upgrade of six and the submission of four new variants...
April 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#3
JOURNAL ARTICLE
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, Damian Smedley
PURPOSE: Existing resources that characterise the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from human population sequencing studies. Several repositories document phenotypic annotations for rare disorders, however there is a lack of comprehensive reporting on lethal phenotypes. METHODS: We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death...
April 13, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#4
JOURNAL ARTICLE
William R Thompson, Ryan Manuel, Anthony Abbruscato, Jim Carr, John Campbell, Brittany Hornby, Frédéric M Vaz, Hilary J Vernon
PURPOSE: Evaluate long-term efficacy and safety of elamipretide during the open-label extension (OLE) of the TAZPOWER trial in individuals with Barth syndrome (BTHS) . METHODS: TAZPOWER was a 28-week randomized, double-blind, placebo-controlled trial followed by a 168-week OLE. Patients entering the OLE continued elamipretide 40mg subcutaneous daily. OLE primary endpoints were safety and tolerability; secondary endpoints included change from baseline in the 6-minute walk test (6MWT) and BarTH Syndrome Symptom Assessment (BTHS-SA) Total Fatigue...
April 7, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#5
EDITORIAL
Kyle J McKibbin, Alice B Popejoy, Mahsa Shabani
No abstract text is available yet for this article.
March 28, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#6
JOURNAL ARTICLE
Alinoë Lavillaureix, Paul Rollier, Artem Kim, Veranika Panasenkava, Marie De Tayrac, Wilfrid Carré, Hélène Guyodo, Marie Faoucher, Elisabeth Poirel, Linda Akloul, Chloe Quelin, Sandra Whalen, Jessica Bos, Marjoleine Broekema, Johanna M van Hagen, Katheryn Grand, Michelle Allen-Sharpley, Emily Magness, Scott McLean, Hülya Kayserili, Umut Altunoglu, Angie En Qi Chong, Shifeng Xue, Mederic Jeanne, Naif Almontashiri, Wisam Habhab, Clemence Vanlerberghe, Laurence Faivre, Eleonore Viora Dupont, Christophe Philippe, Hana Safraou, Fanny Laffargue, Luisa Mittendorf, Rami Abou Jamra, Siddaramappa Jagdish Patil, Ashwin Dalal, Asodu Sandeep Sarma, Boris Keren, Bruno Reversade, Christèle Dubourg, Sylvie Odent, Valérie Dupé
PURPOSE: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog (SHH), a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with DISP1 variants. METHODS: This study was based on the identification of at least one pathogenic variant of the DISP1 gene in individuals for whom detailed clinical data were available...
March 23, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#7
JOURNAL ARTICLE
Mengqi Ma, Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E Bove, Norma Quintanilla, Sebnem O Sag, Sehime G Temel, Charles A LeDuc, Amanda J McPartland, Elaine M Pereira, Yufeng Shen, Jacob Hagen, Christie P Thomas, Nhu Thao Nguyen Galván, Xueyang Pan, Shenzhao Lu, Jill A Rosenfeld, Daniel G Calame, Michael F Wangler, James R Lupski, Davut Pehlivan, Paula M Hertel, Wendy K Chung, Hugo J Bellen
PURPOSE: YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases. METHODS: We report three unrelated individuals with rare homozygous missense variants in YKT6 who exhibited neurological disease with or without a progressive infantile liver disease. We modeled the variants in Drosophila. We generated wild-type and variant genomic rescue constructs (GRs) of the fly ortholog dYkt6 and compared their ability in rescuing the loss-of-function phenotypes in mutant flies...
March 21, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#8
JOURNAL ARTICLE
Ning Yuan Lee, Melissa Hum, Matthew Wong, Pei-Yi Ong, Soo-Chin Lee, Ann S G Lee
PURPOSE: Germline variant interpretation often depends on population-matched control cohorts. This is not feasible for population-groups that are underrepresented in current population reference databases. METHODS: We classify germline variants with population-matched controls for two ancestrally diverse cohorts of patients: 132 early-onset or familial CRC patients from Singapore (SG), and 100 early-onset CRC patients from the United States (US). The effects of using a population-mismatched control cohort are simulated by swapping the control cohorts used for each patient cohort, with or without the popmax computational strategy...
March 21, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#9
JOURNAL ARTICLE
Daniel J Kats, Karen Donelan, Souvik Banerjee, Gert de Graaf, Ellen Skladzien, Brian Takashi Hooper, Rose Mordi, Tetiana Mykhailenko, Frank Buckley, Stephanie L Santoro, Vasiliki Patsiogiannis, Kavita Krell, Kelsey Haugen, Brian G Skotko
PURPOSE: We previously designed the Down Syndrome Societal Services and Supports Survey (DS-4S) to measure country-specific supports for people with Down syndrome (DS) across multiple life domains (healthcare, education, policy, independence, and community inclusion). We now report and analyze the results. METHODS: We partnered with international DS consortia, who distributed the DS-4S to 154 cumulative members representing over 100 countries. Organizations were included if they had a holistic focus on the lives of people with DS and if at least 50% of their members either have DS or are family members of people with DS...
March 19, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#10
JOURNAL ARTICLE
Gabriela Elizondo, Ajesh Saini, Cesar Gonzalez de Alba, Ashley Gregor, Cary O Harding, Melanie B Gillingham, Jeffrey M Vinocur
BACKGROUND: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder characterized by recurrent episodes of metabolic decompensation and rhabdomyolysis as well as retinopathy, peripheral neuropathy, and cardiac involvement such as infantile dilated cardiomyopathy. As LCHADD patients are surviving longer, we sought to characterize LCHADD-associated major cardiac involvement in adolescence and young adulthood. METHODS: A retrospective cohort of 16 adolescent and young adult participants with LCHADD was reviewed for cardiac phenotype...
March 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#11
JOURNAL ARTICLE
Whiwon Lee, Daena Hirjikaka, Sonya Grewal, Angela Shaw, Stephanie Luca, Marc Clausen, Yvonne Bombard, Robin Z Hayeems
BACKGROUND: Digital tools are increasingly incorporated into genetics practice to address challenges with the current model of care. Yet, genetics providers' perspectives on digital tool use are not well characterized. METHODS: Genetics providers across Canada were recruited. Semi-structured interviews were conducted to ascertain their perspectives on digital tool use and the clinical practice factors that might inform digital tool integration. A qualitative interpretive description approach was used for analysis...
March 13, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#12
EDITORIAL
W Gregory Feero, Robert D Steiner, Anne Slavotinek, Tiago Faial, Michael J Bamshad, Jehannine Austin, Bruce R Korf, Annette Flanagin, Kirsten Bibbins-Domingo
No abstract text is available yet for this article.
March 12, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#13
JOURNAL ARTICLE
Frédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, Miguel A Prado, Byung-Hoon Lee, Sophie Möller, Martin Wendlandt, Barbara A Zieba, Laëtitia Florenceau, Virginie Vignard, Léa Poirier, Bérénice Toutain, Isabella Moroni, Charlotte Dubucs, Nicolas Chassaing, Judit Horvath, Holger Prokisch, Sébastien Küry, Stéphane Bézieau, Joao A Paulo, Daniel Finley, Elke Krüger, Daniele Ghezzi, Bertrand Isidor
PURPOSE: Imbalances in protein homeostasis affect human brain development, with the ubiquitin-proteasome system (UPS) and autophagy playing crucial roles in neurodevelopmental disorders (NDD). This study explores the impact of biallelic USP14 variants on neurodevelopment, focusing on its role as a key hub connecting UPS and autophagy. METHODS: Here, we identified biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease...
March 9, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#14
EDITORIAL
Wendy K Chung, Shoumita Dasgupta, Debra S Regier, Benjamin D Solomon
No abstract text is available yet for this article.
March 8, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#15
JOURNAL ARTICLE
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Maja Studencka-Turski, Yannis Duffourd, Sébastien Moutton, Frédédic Tran Mau-Them, Christophe Philippe, John Dean, Stephen Tennant, Alice S Brooks, Marjon A van Slegtenhorst, Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Eleina M England, Mayra Martinez Ojeda, Elizabeth C Engle, Caroline D Robson, Michelle Morrow, A Micheil Innes, Ryan Lamont, Matthea Sanderson, Elke Krüger, Christel Thauvin, Ben Distel, Laurence Faivre, Ype Elgersma, Antonio Vitobello
PURPOSE: FEM1B acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CRL2 E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status by controlling mitochondrial activity, but its implication in human disease remains elusive. METHODS: To understand the involvement of FEM1B in human disease, we made use of Matchmaker exchange platforms to identify individuals with de novo variants in FEM1B and performed their clinical evaluation...
March 7, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#16
JOURNAL ARTICLE
Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, German Moris, Ayşe Ipek Polat, Uluc Yis, Carmen Espinos, Liedewei Van de Vondel, Els De Vriendt, Georgia Karadima, Brunhilde Wirth, Michael Hanna, Henry Houlden, Jose Berciano, Albena Jordanova
PURPOSE: We describe three families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype. METHODS: The patients underwent extensive clinical examinations. Exome sequencing was done in four affected individuals. The functional effect of the c...
March 5, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#17
JOURNAL ARTICLE
Zoe Fehlberg, Ilias Goranitis, Andrew J Mallett, Zornitza Stark, Stephanie Best
PURPOSE: Determining the value of genomic tests in rare disease necessitates a broader conceptualization of genomic utility beyond diagnostic yield. Despite widespread discussion, consensus towards which aspects of value to consider is lacking. This study aimed to use expert opinion to identify and refine priority indicators of utility in rare disease genomic testing. MATERIALS AND METHODS: We used two survey rounds following Delphi methodology to obtain consensus on indicators of utility among experts involved in policy, clinical, research, and consumer advocacy leadership in Australia...
March 5, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#18
JOURNAL ARTICLE
Jenna Pucel, Lauren C Briere, Chloe Reuter, Perman Gochyyev, Kimberly LeBlanc
PURPOSE: Exome (ES) and genome sequencing (GS) are increasingly being utilized for individuals with rare and undiagnosed diseases; however, guidelines on their use remain limited. This study aimed to identify factors associated with diagnosis by ES and/or GS in a heterogeneous population of patients with rare and undiagnosed diseases. METHODS: In this case control study, we reviewed data from 400 diagnosed and 400 undiagnosed randomly selected participants in the Undiagnosed Diseases Network (UDN), all of whom had undergone ES and/or GS...
March 1, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#19
JOURNAL ARTICLE
Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott McLean, Carrie Schmid, Morgan Nutter, Melissa Stuebben, Emily Magness, Olivia Juarez, Dina El Achi, Bailey Mitchell, Kevin E Glinton, Laurie Robak, Sandesh Cs Nagamani, Lisa Saba, Adasia Ritenour, Lilei Zhang, Haley Streff, Katie Chan, K Jordan Kemere, Kent Carter, Nichole Owen, Liesbeth Vossaert, Pengfei Liu, Hugo Bellen, Michael Wangler
PURPOSE: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing. METHODS: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project...
February 28, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#20
JOURNAL ARTICLE
Julie W Rutten, Minne N Cerfontaine, Kyra L Dijkstra, Aat A Mulder, Jeroen Vreijling, Mark Kruit, Roman I Koning, Susanne T de Bot, Koen M van Nieuwenhuizen, Hans J Baelde, Henk W Berendse, Leon H Mei, George J G Ruijter, Frank Baas, Carolina R Jost, Sjoerd G van Duinen, Esther A R Nibbeling, Gido Gravesteijn, Saskia A J Lesnik Oberstein
PURPOSE: To describe a recessively inherited cerebral small vessel disease, caused by loss-of-function variants in Nitrilase1 (NIT1). METHODS: We performed exome sequencing, brain MRI, neuropathology, electron microscopy, Western Blotting and transcriptomic and metabolic analyses in seven NIT1-small vessel disease patients from five unrelated pedigrees. RESULTS: The first identified patients were three siblings, compound heterozygous for the NIT1 c...
February 27, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
