当前期刊: Genetics in Medicine Go to current issue    加入关注   
显示样式:        排序: 导出
我的关注
我的收藏
您暂时未登录!
登录
  • GATAD2B -associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
    Genet. Med. (IF 8.683) Pub Date : 2020-01-17
    Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y. Huang; Ana P. G. Silva; Hane Lee; Emilie D. Douine; Maria G. Otero; Andrew Choi; Katheryn Grand; Ingrid P. Taff; Mauricio R. Delgado; M. J. Hajianpour; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W. Gripp; Samantha A. Vergano; Sonal Mahida; Sakkubai Naidu; Ana Berta Sousa; Karen E. Wain; Thomas D. Challman; Geoffrey Beek; Donald Basel; Judith Ranells; Rosemarie Smith; Roman Yusupov; Mary-Louise Freckmann; Lisa Ohden; Laura Davis-Keppen; David Chitayat; James J. Dowling; Richard Finkel; Andrew Dauber; Rebecca Spillmann; Loren D. M. Pena; Kay Metcalfe; Miranda Splitt; Katherine Lachlan; Shane A. McKee; Jane Hurst; David R. Fitzpatrick; Jenny E. V. Morton; Helen Cox; Sunita Venkateswaran; Juan I. Young; Eric D. Marsh; Stanley F. Nelson; Julian A. Martinez; John M. Graham; Usha Kini; Joel P. Mackay; Tyler Mark Pierson
    更新日期:2020-01-17
  • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
    Genet. Med. (IF 8.683) Pub Date : 2020-01-17
    Sara Cuvertino; Verity Hartill; Alice Colyer; Terence Garner; Nisha Nair; Lihadh Al-Gazali; Natalie Canham; Victor Faundes; Frances Flinter; Jozef Hertecant; Muriel Holder-Espinasse; Brian Jackson; Sally Ann Lynch; Fatima Nadat; Vagheesh M. Narasimhan; Michelle Peckham; Robert Sellers; Marco Seri; Francesca Montanari; Laura Southgate; Gabriella Maria Squeo; Richard Trembath; David van Heel; Santina Venuto; Daniel Weisberg; Karen Stals; Sian Ellard; Anne Barton; Susan J. Kimber; Eamonn Sheridan; Giuseppe Merla; Adam Stevens; Colin A. Johnson; Siddharth Banka
    更新日期:2020-01-17
  • Defining the clinical phenotype of Saul–Wilson syndrome
    Genet. Med. (IF 8.683) Pub Date : 2020-01-17
    Carlos R. Ferreira; Wadih M. Zein; Laryssa A. Huryn; Andrea Merker; Seth I. Berger; William G. Wilson; George E. Tiller; Lynne A. Wolfe; Melissa Merideth; Daniel R. Carvalho; Angela L. Duker; Heiko Bratke; Marte Gjøl Haug; Luis Rohena; Hanne B. Hove; Zhi-Jie Xia; Bobby G. Ng; Hudson H. Freeze; Melissa Gabriel; Alvaro H. Serrano Russi; Lauren Brick; Mariya Kozenko; Dawn L. Earl; Emma Tham; Gen Nishimura; John A. Phillips; William A. Gahl; Rizwan Hamid; Andrew P. Jackson; Giedre Grigelioniene; Michael B. Bober
    更新日期:2020-01-17
  • Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises
    Genet. Med. (IF 8.683) Pub Date : 2020-01-13
    Glenn E. Palomaki; Philip Wyatt; Robert Glen Best; Nathalie Lepage; Edward R. Ashwood; Rhona J. Souers; John A. Thorson
    更新日期:2020-01-13
  • Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
    Genet. Med. (IF 8.683) Pub Date : 2020-01-08
    Jennifer N. Dines; Brian H. Shirts; Thomas P. Slavin; Tom Walsh; Mary-Claire King; Douglas M. Fowler; Colin C. Pritchard
    更新日期:2020-01-08
  • Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
    Genet. Med. (IF 8.683) Pub Date : 2020-01-08
    Stefan Rentas; Komal S. Rathi; Maninder Kaur; Pichai Raman; Ian D. Krantz; Mahdi Sarmady; Ahmad Abou Tayoun
    更新日期:2020-01-08
  • In This Issue
    Genet. Med. (IF 8.683) Pub Date : 2020-01-06
    V. L. Dengler
    更新日期:2020-01-06
  • News
    Genet. Med. (IF 8.683) Pub Date : 2020-01-06
    V. L. Dengler
    更新日期:2020-01-06
  • Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature
    Genet. Med. (IF 8.683) Pub Date : 2020-01-06
    Aleena A. Khan; Laura E. Case; Mrudu Herbert; Stephanie DeArmey; Harrison Jones; Kelly Crisp; Kanecia Zimmerman; Mai K. ElMallah; Sarah P. Young; Priya S. Kishnani
    更新日期:2020-01-06
  • Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
    Genet. Med. (IF 8.683) Pub Date : 2020-01-06
    Willemijn J. van Rijt; Emmalie A. Jager; Derk P. Allersma; A. Çiğdem Aktuğlu Zeybek; Kaustuv Bhattacharya; François-Guillaume Debray; Carolyn J. Ellaway; Matthias Gautschi; Michael T. Geraghty; David Gil-Ortega; Austin A. Larson; Francesca Moore; Eva Morava; Andrew A. Morris; Kimihiko Oishi; Manuel Schiff; Sabine Scholl-Bürgi; Michel C. Tchan; Jerry Vockley; Peter Witters; Saskia B. Wortmann; Francjan van Spronsen; Johan L. K. Van Hove; Terry G. J. Derks
    更新日期:2020-01-06
  • Clustering of comorbid conditions among women who carry an FMR1 premutation
    Genet. Med. (IF 8.683) Pub Date : 2020-01-03
    Emily Graves Allen; Krista Charen; Heather S. Hipp; Lisa Shubeck; Ashima Amin; Weiya He; Jessica Ezzell Hunter; Stephanie L. Sherman

    Purpose Emerging evidence indicates that women who carry an FMR1 premutation can experience complex health profiles beyond the two well-established premutation-associated disorders: fragile X–associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X–associated tremor–ataxia syndrome (FXTAS, affects ~6–15% carriers). Methods To better understand premutation-associated health profiles, we collected self-reported medical histories on 355 carrier women. Results Twenty-two health conditions were reported by at least 10% of women. Anxiety, depression, and headaches were reported by more than 30%. The number of comorbid conditions was significantly associated with body mass index (BMI) and history of smoking, but not age. Survival analysis indicated that women with FXPOI had an earlier age at onset for anxiety and osteoporosis than women without FXPOI. Cluster analysis identified eight clusters of women who reported similar patterns of comorbid conditions. The majority of carriers (63%) fell into three categories primarily defined by the presence of only a few conditions. Interestingly, a single cluster defined women with symptoms of FXTAS, and none of these women had FXPOI. Conclusion Although some women with a premutation experience complex health outcomes, most carriers report only minimal comorbid conditions. Further, women with symptoms of FXTAS appear to be distinct from women with symptoms of FXPOI.

    更新日期:2020-01-04
  • Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
    Genet. Med. (IF 8.683) Pub Date : 2019-12-19
    Hongyan Li; Holly LaDuca; Tina Pesaran; Elizabeth C. Chao; Jill S. Dolinsky; Michael Parsons; Amanda B. Spurdle; Eric C. Polley; Hermela Shimelis; Steven N. Hart; Chunling Hu; Fergus J. Couch; David E. Goldgar

    Purpose Genetic testing of individuals often results in identification of genomic variants of unknown significance (VUS). Multiple lines of evidence are used to help determine the clinical significance of these variants. Methods We analyzed ~138,000 individuals tested by multigene panel testing (MGPT). We used logistic regression to predict carrier status based on personal and family history of cancer. This was applied to 4644 tested individuals carrying 2383 BRCA1/2 variants to calculate likelihood ratios informing pathogenicity for each. Heterogeneity tests were performed for specific classes of variants defined by in silico predictions. Results Twenty-two variants labeled as VUS had odds of >10:1 in favor of pathogenicity. The heterogeneity analysis found that among variants in functional domains that were predicted to be benign by in silico tools, a significantly higher proportion of variants were estimated to be pathogenic than previously indicated; that missense variants outside of functional domains should be considered benign; and that variants predicted to create de novo donor sites were also largely benign. Conclusion The evidence presented here supports the use of personal and family history from MGPT in the classification of VUS and will be integrated into ongoing efforts to provide large-scale multifactorial classification.

    更新日期:2019-12-19
  • Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral
    Genet. Med. (IF 8.683) Pub Date : 2019-12-19
    Sari Lieberman; Ariela Tomer; Avi Ben-Chetrit; Oded Olsha; Shalom Strano; Rachel Beeri; Sivan Koka; Hila Fridman; Karen Djemal; Itzhak Glick; Todd Zalut; Shlomo Segev; Miri Sklair; Bella Kaufman; Amnon Lahad; Aviad Raz; Ephrat Levy-Lahad

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-12-19
  • Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
    Genet. Med. (IF 8.683) Pub Date : 2019-12-18
    Eva Lenassi; Jill Clayton-Smith; Sofia Douzgou; Simon C. Ramsden; Stuart Ingram; Georgina Hall; Claire L. Hardcastle; Tracy A. Fletcher; Rachel L. Taylor; Jamie M. Ellingford; William D. Newman; Cecilia Fenerty; Vinod Sharma; I. Chris Lloyd; Susmito Biswas; Jane L. Ashworth; Graeme C. Black; Panagiotis I. Sergouniotis

    Purpose A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). Methods Two hundred one unrelated children (0–5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011–2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing. Results The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism). Conclusion Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

    更新日期:2019-12-18
  • Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma
    Genet. Med. (IF 8.683) Pub Date : 2019-12-17
    Amin H. Nassar; Sarah Abou Alaiwi; Saud H. AlDubayan; Nicholas Moore; Kent W. Mouw; David J. Kwiatkowski; Toni K. Choueiri; Catherine Curran; Jacob E. Berchuck; Lauren C. Harshman; Pier V. Nuzzo; Nieves Martinez Chanza; Eliezer Van Allen; Edward D. Esplin; Shan Yang; Thomas Callis; Judy E. Garber; Huma Q. Rana; Guru Sonpavde
    更新日期:2019-12-17
  • Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
    Genet. Med. (IF 8.683) Pub Date : 2019-12-17
    Karin Weiss; Hayley P. Lazar; Alina Kurolap; Ariel F. Martinez; Tamar Paperna; Lior Cohen; Marie F. Smeland; Sandra Whalen; Solveig Heide; Boris Keren; Pauline Terhal; Melita Irving; Motoki Takaku; John D. Roberts; Robert M. Petrovich; Samantha A. Schrier Vergano; Amy Kenney; Hanne Hove; Elizabeth DeChene; Shane C. Quinonez; Estelle Colin; Alban Ziegler; Melissa Rumple; Mahim Jain; Danielle Monteil; Elizabeth R. Roeder; Kimberly Nugent; Arie van Haeringen; Michael Gambello; Avni Santani; Līvija Medne; Bryan Krock; Cara M. Skraban; Elaine H. Zackai; Holly A. Dubbs; Thomas Smol; Jamal Ghoumid; Michael J. Parker; Michael Wright; Peter Turnpenny; Jill Clayton-Smith; Kay Metcalfe; Hitoshi Kurumizaka; Bruce D. Gelb; Hagit Baris Feldman; Philippe M. Campeau; Maximilian Muenke; Paul A. Wade; Katherine Lachlan

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-12-17
  • Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants
    Genet. Med. (IF 8.683) Pub Date : 2019-12-17
    Tracy Brandt; Laura M. Sack; Dolores Arjona; Duanjun Tan; Hui Mei; Hong Cui; Hua Gao; Lora J. H. Bean; Arunkanth Ankala; Daniela Del Gaudio; Amy Knight Johnson; Lisa M. Vincent; Caitlin Reavey; Amy Lai; Gabriele Richard; Jeanne M. Meck
    更新日期:2019-12-17
  • Laird G. Jackson, MD, FACMG
    Genet. Med. (IF 8.683) Pub Date : 2019-12-12
    Kathy Moran
    更新日期:2019-12-13
  • A structured genetics rotation for pediatric residents: an important educational opportunity
    Genet. Med. (IF 8.683) Pub Date : 2019-12-12
    RaeLynn Forsyth; Weiyi Mu; Laura Gibson; Janet R. Serwint; Nicole Shilkofski; Joann Bodurtha

    Purpose As the integral role of genetics in health and disease becomes increasingly understood, pediatricians must incorporate genetic principles into their care of patients. Structured exposure to genetics during residency may better equip future pediatricians to meet this goal. Methods Pediatric interns in the Johns Hopkins pediatric residency program have the option to spend one week immersed in clinical genetics by attending outpatient clinics and seeing inpatient consults. A pretest assessing clinical genetics knowledge is given before the rotation and compared with an identical post-test. Interns have a “scavenger hunt” to introduce genetic resources useful to pediatricians and complete a logbook of patient experiences. An evaluation is completed at the end of the rotation. Results Since the selective started in July 2016, 50 interns have participated. Average pretest score was 2.5/5 compared with a post-test score of 4.3/5, p < 0.0001. Interns saw on average ten patients and four different diagnoses. Overall evaluation was 4.4 on a 5-point scale, 5 being “excellent.” Conclusion This experience suggests that a structured rotation in genetics provides pediatric interns with an opportunity to learn basic clinical genetics knowledge and skills and see patients whom they may otherwise not encounter during residency.

    更新日期:2019-12-13
  • Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial
    Genet. Med. (IF 8.683) Pub Date : 2019-12-11
    Yvonne Bombard, Marc Clausen, Salma Shickh, Chloe Mighton, Selina Casalino, Theresa H. M. Kim, Sarah M. Muir, Lindsay Carlsson, Nancy Baxter, Adena Scheer, Christine Elser, Andrea Eisen, Seema Panchal, Tracy Graham, Melyssa Aronson, Carolyn Piccinin, Talia Mancuso, Kara Semotiuk, Michael Evans, June C. Carroll, Kenneth Offit, Mark Robson, Jada G. Hamilton, Emily Glogowski, Kasmintan Schrader, Raymond H. Kim, Jordan Lerner-Ellis, Kevin E. Thorpe, Andreas Laupacis
    更新日期:2019-12-11
  • Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Genet. Med. (IF 8.683) Pub Date : 2019-12-11
    Irene De Biase, Silvia Tortorelli, Lisa Kratz, Steven J. Steinberg, Kristina Cusmano-Ozog, Nancy Braverman

    Peroxisomal disorders are a clinically and genetically heterogeneous group of diseases caused by defects in peroxisomal biogenesis or function, usually impairing several metabolic pathways. Peroxisomal disorders are rare; however, the incidence may be underestimated due to the broad spectrum of clinical presentations. The inclusion of X-linked adrenoleukodystrophy to the Recommended Uniform Screening Panel for newborn screening programs in the United States may increase detection of this and other peroxisomal disorders. The current diagnostic approach relies heavily on biochemical genetic tests measuring peroxisomal metabolites, including very long–chain and branched-chain fatty acids in plasma and plasmalogens in red blood cells. Molecular testing can confirm biochemical findings and identify the specific genetic defect, usually utilizing a multiple-gene panel or exome/genome approach. When next-generation sequencing is used as a first-tier test, evaluation of peroxisome metabolism is often necessary to assess the significance of unknown variants and establish the extent of peroxisome dysfunction. This document provides a resource for laboratories developing and implementing clinical biochemical genetic testing for peroxisomal disorders, emphasizing technical considerations for sample collection, test performance, and result interpretation. Additionally, considerations on confirmatory molecular testing are discussed.

    更新日期:2019-12-11
  • Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening
    Genet. Med. (IF 8.683) Pub Date : 2019-12-11
    Minghao Dang, Hanli Xu, Jingbo Zhang, Weiwei Wang, Ling Bai, Nan Fang, Lin Liang, Junrong Zhang, Feiran Liu, Qixi Wu, Shaowei Wang, Yongtao Guan

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-12-11
  • In This Issue
    Genet. Med. (IF 8.683) Pub Date : 2019-12-04
    V. L. Dengler
    更新日期:2019-12-05
  • News
    Genet. Med. (IF 8.683) Pub Date : 2019-12-04
    V. L. Dengler
    更新日期:2019-12-05
  • Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
    Genet. Med. (IF 8.683) Pub Date : 2019-11-29
    Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan Stoler, Richard B. Parad, Sergei Roumiantsev, Olaf Bodamer, Alan H. Beggs, Jane Juusola, Pankaj B. Agrawal, Timothy W. Yu
    更新日期:2019-11-29
  • De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
    Genet. Med. (IF 8.683) Pub Date : 2019-11-28
    Maria J. Nabais Sá, Hanka Venselaar, Laurens Wiel, Aurélien Trimouille, Eulalie Lasseaux, Sophie Naudion, Didier Lacombe, Amélie Piton, Catherine Vincent-Delorme, Christiane Zweier, André Reis, Regina Trollmann, Anna Ruiz, Elisabeth Gabau, Annalisa Vetro, Renzo Guerrini, Somayeh Bakhtiari, Michael C. Kruer, David J. Amor, Monica S. Cooper, Emilia K. Bijlsma, Tahsin Stefan Barakat, Marieke F. van Dooren, Marjon van Slegtenhorst, Rolph Pfundt, Christian Gilissen, Michèl A. Willemsen, Bert B. A. de Vries, Arjan P. M. de Brouwer, David A. Koolen
    更新日期:2019-11-28
  • Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system
    Genet. Med. (IF 8.683) Pub Date : 2019-11-27
    Kenneth D. Mandl, Tracy Glauser, Ian D. Krantz, Paul Avillach, Anna Bartels, Alan H. Beggs, Sawona Biswas, Florence T. Bourgeois, Jeremy Corsmo, Andrew Dauber, Batsal Devkota, Gary R. Fleisher, Allison P. Heath, Ingo Helbig, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Susan Kornetsky, Joseph A. Majzoub, Keith Marsolo, Lisa J. Martin, Jeremy Nix, Amy Schwarzhoff, Jason Stedman, Arnold Strauss, Kristen L. Sund, Deanne M. Taylor, Peter S. White, Eric Marsh, Adda Grimberg, Colin Hawkes

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-11-27
  • Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta
    Genet. Med. (IF 8.683) Pub Date : 2019-11-27
    Chaya N. Murali, David Cuthbertson, Brady Slater, Dianne Nguyen, Alicia Turner, Gerald Harris, V. Reid Sutton, Brendan Lee, Sandesh C. S. Nagamani
    更新日期:2019-11-27
  • Correction: Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists
    Genet. Med. (IF 8.683) Pub Date : 2019-11-27
    Roy N. Alcalay, Caitlin Kehoe, Evan Shorr, Roseanna Battista, Anne Hall, Tanya Simuni, Karen Marder, Anne-Marie Wills, Anna Naito, James C. Beck, Michael A. Schwarzschild, Martha Nance

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-11-27
  • Accurate detection of clinically relevant uniparental disomy from exome sequencing data
    Genet. Med. (IF 8.683) Pub Date : 2019-11-26
    Kevin Yauy, Nicole de Leeuw, Helger G. Yntema, Rolph Pfundt, Christian Gilissen

    Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes originating from the same parent and is typically identified by marker analysis or single-nucleotide polymorphism (SNP)-based microarrays. UPDs may lead to disease due to imprinting effects, underlying homozygous pathogenic variants, or low-level mosaic aneuploidies. In this study we detected clinically relevant UPD events in both trio and single exome sequencing (ES) data. Methods UPD was detected by applying a method based on Mendelian inheritance errors to a cohort of 4912 ES trios (all UPD types) and by using median absolute deviation–scaled regions of homozygosity to a cohort of 29,723 single ES samples (isodisomy only). Results As positive controls, we accurately identified three mixed UPD, three isodisomy, as well as two segmental UPD events that were all previously reported by SNP-based microarrays. In addition, we identified three segmental UPD and 11 isodisomy events. This resulted in a novel diagnosis based on imprinting for one patient, and adjusted genetic counseling for another patient. Conclusion UPD can easily be identified using both single and trio ES and may be clinically relevant to patients. UPD analysis should become routine in clinical ES, because it increases the diagnostic yield and could affect genetic counseling.

    更新日期:2019-11-26
  • Optimizing genetics online resources for diverse readers
    Genet. Med. (IF 8.683) Pub Date : 2019-11-26
    Jiyoo Chang, Monica Penon-Portmann, Joseph T. Shieh

    Purpose Clear and accurate genetic information should be available to health-care consumers at an individualized level of comprehension. The objective of this study is to evaluate the complexity of common online resources and to simplify text content using automated text processing tools. Methods We extracted all text from Genetics Home Reference and MedlinePlus in bulk and analyzed content using natural language processing. We applied custom tools to improve the readability and compared readability before and after text optimization. Results Commonly used educational materials were more complex than the recommended reading level for the general public. Genetic health information entries from Genetics Home Reference (n = 1279) were written at a median 13.0 grade level. MedlinePlus entries, which are not exclusively genetic (n = 1030), had a median grade level of 7.7. When we optimized text for the 59 actionable conditions by prioritizing medical details using a standard structure, the average reading grade level improved. Conclusion Factors that increase complexity are long sentences and difficult words. Future strategies to reduce complexity include prioritizing relevant details and using more illustrations. Simplifying and providing standardized online health resources would benefit diverse consumers and promote inclusivity.

    更新日期:2019-11-26
  • Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
    Genet. Med. (IF 8.683) Pub Date : 2019-11-26
    Stephanie L. Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J. Hart, Victoria Hobensack, Priya S. Kishnani, Eric A. Macklin, Kandamurugu Manickam, Andrew McCormick, Patricia Nash, Nicolas M. Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G. Skotko

    Purpose An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. Methods Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls. Results We identified 35 patients with DS and unexplained regression, with a mean age at regression of 17.5 years. Diagnostic features differed substantially between regression cases and matched controls (p < 0.001 for all but externalizing behaviors). Patients with regression had four times as many mental health concerns (p < 0.001), six times as many stressors (p < 0.001), and seven times as many depressive symptoms (p < 0.001). Tiered medical evaluation most often identified abnormalities in vitamin D 25-OH levels, polysomnograms, thyroid peroxidase antibodies, and celiac screens. Analysis of the subset of patients with nondiagnostic medical evaluations reinforced the proposed definition. Conclusions Our case–control evidence supports a proposed definition of unexplained regression in Down syndrome. Establishing this clinical definition supports future research and investigation of an underlying mechanism.

    更新日期:2019-11-26
  • Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
    Genet. Med. (IF 8.683) Pub Date : 2019-11-25
    Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Derya Bulut, Joseph A. Church, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Anke Dick, Nicola Dikow, Carlo Dionisi-Vici, Felix Distelmaier, Neslihan Ekşi Bozbulut, François Feillet, Emmanuel Gonzales, Nedim Hadzic, Fabian Hauck, Robert Hegarty, Maja Hempel, Theresia Herget, Christoph Klein, Vassiliki Konstantopoulou, Robert Kopajtich, Alice Kuster, Martin W. Laass, Elke Lainka, Catherine Larson-Nath, Alexander Leibner, Eberhard Lurz, Johannes A. Mayr, Patrick McKiernan, Karine Mention, Ute Moog, Neslihan Onenli Mungan, Korbinian M. Riedhammer, René Santer, Irene Valenzuela Palafoll, Jerry Vockley, Dominik S. Westphal, Arnaud Wiedemann, Saskia B. Wortmann, Gaurav D. Diwan, Robert B. Russell, Holger Prokisch, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Dominic Lenz

    Purpose Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. Methods Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear models and visualized by mosaic plots; facial profiles were investigated via DeepGestalt. The structure of the NBAS protein was predicted using computational methods. Results One hundred ten individuals from 97 families with biallelic pathogenic NBAS variants were identified, including 26 novel patients with 19 previously unreported variants, giving a total number of 86 variants. Protein modeling redefined the β-propeller domain of NBAS. Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger–Huët anomaly/SOPH). Conclusion We define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS.

    更新日期:2019-11-26
  • Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
    Genet. Med. (IF 8.683) Pub Date : 2019-11-22
    Karen E. Wain, Danielle R. Azzariti, Jennifer L. Goldstein, Amy Knight Johnson, Patti Krautscheid, Brianna Lepore, Julianne M. O’Daniel, Deborah Ritter, Juliann M. Savatt, Erin Rooney Riggs, Christa Lese Martin
    更新日期:2019-11-22
  • Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Genet. Med. (IF 8.683) Pub Date : 2019-11-16
    Lora J. H. Bean, Birgit Funke, Colleen M. Carlston, Jennifer L. Gannon, Sibel Kantarci, Bryan L. Krock, Shulin Zhang, Pinar Bayrak-Toydemir
    更新日期:2019-11-17
  • De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
    Genet. Med. (IF 8.683) Pub Date : 2019-11-14
    Ghayda M. Mirzaa, Jessica X. Chong, Amélie Piton, Bernt Popp, Kimberly Foss, Hui Guo, Ricardo Harripaul, Kun Xia, Joshua Scheck, Kimberly A. Aldinger, Samin A. Sajan, Sha Tang, Dominique Bonneau, Anita Beck, Janson White, Sonal Mahida, Jacqueline Harris, Constance Smith-Hicks, Juliane Hoyer, Christiane Zweier, André Reis, Christian T. Thiel, Rami Abou Jamra, Natasha Zeid, Amy Yang, Laura S. Farach, Laurence Walsh, Katelyn Payne, Luis Rohena, Milen Velinov, Alban Ziegler, Elise Schaefer, Vincent Gatinois, David Geneviève, Marleen E. H. Simon, Jennefer Kohler, Joshua Rotenberg, Patricia Wheeler, Austin Larson, Michelle E. Ernst, Cigdem I. Akman, Rachel Westman, Patricia Blanchet, Lori-Anne Schillaci, Catherine Vincent-Delorme, Karen W. Gripp, Francesca Mattioli, Gwenaël Le Guyader, Bénédicte Gerard, Michèle Mathieu-Dramard, Gilles Morin, Roksana Sasanfar, Muhammad Ayub, Nasim Vasli, Sandra Yang, Rick Person, Kristin G. Monaghan, Deborah A. Nickerson, Ellen van Binsbergen, Gregory M. Enns, Annika M. Dries, Leah J. Rowe, Anne C. H. Tsai, Shayna Svihovec, Jennifer Friedman, Zehra Agha, Raheel Qamar, Lance H. Rodan, Julian Martinez-Agosto, Charlotte W. Ockeloen, Marie Vincent, William James Sunderland, Jonathan A. Bernstein, Evan E. Eichler, John B. Vincent, Michael J. Bamshad
    更新日期:2019-11-14
  • Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Genet. Med. (IF 8.683) Pub Date : 2019-11-08
    Glenn E. Palomaki, Caleb Bupp, Anthony R. Gregg, Mary E. Norton, Devin Oglesbee, Robert. G. Best

    Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based screening test. The basic screening methodology was described in the late 1970s and screening programs were active a few years later. By identifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% of anencephaly can be identified as early as 16 weeks gestation. The interpretation of msAFP levels is complicated by the need to consider multiple factors such as gestational age, maternal weight, maternal race, multiple gestations, and more. Testing for AFP and acetylcholinesterase in amniotic fluid and/or identification of the lesion by targeted ultrasound is considered diagnostic of ONTD. When a diagnosis is made, options include termination, surgery after delivery, or in utero surgery, depending on factors such as location and size of the defect, and the presence of any additional anomalies. Screening for ONTD should be performed as part of a comprehensive program linking primary obstetrical care providers, laboratorians, and high-risk clinicians.

    更新日期:2019-11-08
  • Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
    Genet. Med. (IF 8.683) Pub Date : 2019-11-08
    Kathleen A. Williamson, H. Nikki Hall, Liusaidh J. Owen, Benjamin J. Livesey, Isabel M. Hanson, G. G. W. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T. Moore, Michael Parker, Charlotte M. Reiff, Jay Self, Edward S. Tobias, Joke B. G. M. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David R. FitzPatrick
    更新日期:2019-11-08
  • Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
    Genet. Med. (IF 8.683) Pub Date : 2019-11-06
    Erin Rooney Riggs, Erica F. Andersen, Athena M. Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I. Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda-Alvarez, Swaroop Aradhya, Christa Lese Martin

    Purpose Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been in widespread clinical use, tremendous strides have been made in understanding the effects of copy-number variants (CNVs) in both affected individuals and the general population. However, continued broad implementation of array and next-generation sequencing–based technologies will expand the types of CNVs encountered in the clinical setting, as well as our understanding of their impact on human health. Methods To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the technology used to identify them, the American College of Medical Genetics and Genomics has developed the following professional standards in collaboration with the National Institutes of Health (NIH)–funded Clinical Genome Resource (ClinGen) project. Results This update introduces a quantitative, evidence-based scoring framework; encourages the implementation of the five-tier classification system widely used in sequence variant classification; and recommends “uncoupling” the evidence-based classification of a variant from its potential implications for a particular individual. Conclusion These professional standards will guide the evaluation of constitutional CNVs and encourage consistency and transparency across clinical laboratories.

    更新日期:2019-11-05
  • Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria
    Genet. Med. (IF 8.683) Pub Date : 2019-11-06
    Hetanshi Naik, Jessica R. Overbey, Guy H. Montgomery, Gary Winkel, Manisha Balwani, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Brendan McGuire, Siobán Keel, Cynthia Levy, Angelika Erwin, Robert J. Desnick
    更新日期:2019-11-05
  • News
    Genet. Med. (IF 8.683) Pub Date : 2019-11-05
    Roni Dengler
    更新日期:2019-11-05
  • Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists
    Genet. Med. (IF 8.683) Pub Date : 2019-11-04
    Roy N. Alcalay, Caitlin Kehoe, Evan Shorr, Roseanna Battista, Anne Hall, Tanya Simuni, Karen Marder, Anne-Marie Wills, Anna Naito, James C. Beck, Michael A. Schwarzschild, Martha Nance
    更新日期:2019-11-04
  • The genomic and clinical landscape of fetal akinesia
    Genet. Med. (IF 8.683) Pub Date : 2019-11-04
    Matthias Pergande, Susanne Motameny, Özkan Özdemir, Mona Kreutzer, Haicui Wang, Hülya-Sevcan Daimagüler, Kerstin Becker, Mert Karakaya, Harald Ehrhardt, Nursel Elcioglu, Slavica Ostojic, Cho-Ming Chao, Amit Kawalia, Özgür Duman, Anne Koy, Andreas Hahn, Jens Reimann, Katharina Schoner, Anne Schänzer, Jens H. Westhoff, Eva Maria Christina Schwaibold, Mireille Cossee, Marion Imbert-Bouteille, Harald von Pein, Göknur Haliloglu, Haluk Topaloglu, Janine Altmüller, Peter Nürnberg, Holger Thiele, Raoul Heller, Sebahattin Cirak
    更新日期:2019-11-04
  • POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
    Genet. Med. (IF 8.683) Pub Date : 2019-10-24
    Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean-Francois Deleuze, Robert Olaso, Walton Nephi, Hermann-Josef Lüdecke, Joke B. G. M. Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean-Baptiste Rivière, Jean-Louis Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève
    更新日期:2019-10-24
  • Functional characterization of 84 PALB2 variants of uncertain significance
    Genet. Med. (IF 8.683) Pub Date : 2019-10-21
    Timothy Wiltshire, Mandy Ducy, Tzeh Keong Foo, Chunling Hu, Kun Y. Lee, Anil Belur Nagaraj, Amélie Rodrigue, Thiago T. Gomes, Jacques Simard, Alvaro N. A. Monteiro, Bing Xia, Marcelo A. Carvalho, Jean-Yves Masson, Fergus J. Couch
    更新日期:2019-10-22
  • Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
    Genet. Med. (IF 8.683) Pub Date : 2019-10-17
    Hila Fridman, Doron M. Behar, Shai Carmi, Ephrat Levy-Lahad

    Purpose Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely pathogenic variants (P/LPVs). Variants of unknown significance (VUS) are not reported, unlike genomic or chromosomal array test results in other post/prenatal settings. Couples who are P/LP and VUS carriers (P/LP*VUS) may be at risk, particularly in genes with high P/LP carrier rates. We examined the possible contribution of P/LP*cVUS (coding, nonsynonymous VUS) matings to ECS yield in an Ashkenazi Jewish cohort, a population with well-established preconception screening. Methods We analyzed 672 Ashkenazi Jewish genome sequences (225,456 virtual matings) for variants in three different gene sets and calculated the rates of P/LP*P/LP and P/LP*cVUS matings. Results Across 180 genes, we identified 4671 variants: 144 (3.1%) P/LP and 1963 (42%) VUS. Across gene sets, the proportion of P/LP*P/LP and P/LP*cVUS ARCs was 2.7–3.8% and 6.8–7.5%, respectively. Conclusion Disregarding VUS in ECS may miss ARCs. Even if only 10% of couples currently classified as P/LP*cVUS are ultimately reclassified as P/LP*P/LP, ECS yield would increase by ≈20%. While current understanding of VUS precludes VUS reporting in ECS, these findings underscore the importance of VUS reclassification. This will crucially depend on enlarging population frequency databases, especially of affected individuals.

    更新日期:2019-10-17
  • Is there a duty to reinterpret genetic data? The ethical dimensions
    Genet. Med. (IF 8.683) Pub Date : 2019-10-15
    Paul S. Appelbaum, Erik Parens, Sara M. Berger, Wendy K. Chung, Wylie Burke

    The evolving evidence base for the interpretation of variants identified in genetic and genomic testing has presented the genetics community with the challenge of variant reinterpretation. In particular, it is unclear whether an ethical duty of periodic reinterpretation should exist, who should bear that duty, and what its dimensions should be. Based on an analysis of the ethical arguments for and against a duty to reinterpret, we conclude that a duty should be recognized. Most importantly, by virtue of ordering and conducting tests likely to produce data on variants that cannot be definitively interpreted today, the health-care system incurs a duty to reinterpret when more reliable data become available. We identify four elements of the proposed ethical duty: data storage, initiation of reinterpretation, conduct of reinterpretation, and patient recontact, and we identify the parties best situated to implement each component. We also consider the reasonable extent and duration of a duty, and the role of the patient’s consent in the process, although we acknowledge that some details regarding procedures and funding still need to be addressed. The likelihood of substantial patient benefit from a systematic approach to reinterpretation suggests the importance for the genetics community to reach consensus on this issue.

    更新日期:2019-10-16
  • Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
    Genet. Med. (IF 8.683) Pub Date : 2019-10-14
    Hane Lee, Alden Y. Huang, Lee-kai Wang, Amanda J. Yoon, Genecee Renteria, Ascia Eskin, Rebecca H. Signer, Naghmeh Dorrani, Shirley Nieves-Rodriguez, Jijun Wan, Emilie D. Douine, Jeremy D. Woods, Esteban C. Dell’Angelica, Brent L. Fogel, Martin G. Martin, Manish J. Butte, Neil H. Parker, Richard T. Wang, Perry B. Shieh, Derek A. Wong, Natalie Gallant, Kathryn E. Singh, Y. Jane Tavyev Asher, Janet S. Sinsheimer, Deborah Krakow, Sandra K. Loo, Patrick Allard, Jeanette C. Papp, Christina G. S. Palmer, Julian A. Martinez-Agosto, Stanley F. Nelson
    更新日期:2019-10-14
  • The implementation of newborn screening for spinal muscular atrophy: the Australian experience
    Genet. Med. (IF 8.683) Pub Date : 2019-10-14
    Didu S. T. Kariyawasam, Jacqueline S. Russell, Veronica Wiley, Ian E. Alexander, Michelle A. Farrar
    更新日期:2019-10-14
  • Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets
    Genet. Med. (IF 8.683) Pub Date : 2019-10-10
    Paul J. Azzopardi, Ross E. G. Upshur, Stephanie Luca, Viji Venkataramanan, Beth K. Potter, Pranesh K. Chakraborty, Robin Z. Hayeems
    更新日期:2019-10-10
  • Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases
    Genet. Med. (IF 8.683) Pub Date : 2019-10-08
    Ye Zhu, Kristi M. Swanson, Ricardo L. Rojas, Zhen Wang, Jennifer L. St. Sauver, Sue L. Visscher, Larry J. Prokop, Suzette J. Bielinski, Liewei Wang, Richard Weinshilboum, Bijan J. Borah
    更新日期:2019-10-08
  • Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
    Genet. Med. (IF 8.683) Pub Date : 2019-10-08
    D. Gareth R. Evans, Roope A. Kallionpää, Maurizio Clementi, Eva Trevisson, Victor-Felix Mautner, Sacha J. Howell, Lauren Lewis, Ouidad Zehou, Sirkku Peltonen, Antonella Brunello, Elaine F. Harkness, Pierre Wolkenstein, Juha Peltonen

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-10-08
  • In This Issue
    Genet. Med. (IF 8.683) Pub Date : 2019-10-07
    Roni Dengler
    更新日期:2019-10-07
  • Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
    Genet. Med. (IF 8.683) Pub Date : 2019-10-03
    Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Monin, Sophie Dupuis-Girod, Maria J. Guillen Sacoto, Rhonda E. Schnur, Zehua Zhu, Alice Poisson, Salima El Chehadeh, Yves Alembik, Ange-Line Bruel, Daphné Lehalle, Sophie Nambot, Sébastien Moutton, Sylvie Odent, Sylvie Jaillard, Christèle Dubourg, Yvonne Hilhorst-Hofstee, Tina Barbaro-Dieber, Lucia Ortega, Elizabeth J. Bhoj, Diane Masser-Frye, Lynne M. Bird, Kristin Lindstrom, Keri M. Ramsey, Vinodh Narayanan, Emily Fassi, Marcia Willing, Trevor Cole, Claire G. Salter, Rhoda Akilapa, Anthony Vandersteen, Natalie Canham, Patrick Rump, Erica H. Gerkes, Jolien S. Klein Wassink-Ruiter, Emilia Bijlsma, Mariëtte J. V. Hoffer, Marcelo Vargas, Antonina Wojcik, Florian Cherik, Christine Francannet, Jill A. Rosenfeld, Keren Machol, Daryl A. Scott, Carlos A. Bacino, Xia Wang, Gary D. Clark, Marta Bertoli, Simon Zwolinski, Rhys H. Thomas, Ela Akay, Richard C. Chang, Rebekah Bressi, Rossana Sanchez Russo, Myriam Srour, Laura Russell, Anne-Marie E. Goyette, Lucie Dupuis, Roberto Mendoza-Londono, Catherine Karimov, Maries Joseph, Mathilde Nizon, Benjamin Cogné, Alma Kuechler, Amélie Piton, Eric W. Klee, Véronique Lefebvre, Karl J. Clark, Christel Depienne
    更新日期:2019-10-03
  • News
    Genet. Med. (IF 8.683) Pub Date : 2019-10-02
    Roni Dengler
    更新日期:2019-10-03
  • In This Issue
    Genet. Med. (IF 8.683) Pub Date : 2019-10-02
    Roni Dengler
    更新日期:2019-10-03
  • Correction: Regional models of genetic services in the United States
    Genet. Med. (IF 8.683) Pub Date : 2019-09-25
    Celia Kaye, Joann Bodurtha, Mathew Edick, Susanna Ginsburg, Alisha Keehn, Michele Lloyd-Puryear, Debra Lochner Doyle, Megan Lyon, Robert Ostrander, Matthew Taylor

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-09-25
  • Correction: Creating genetic reports that are understood by nonspecialists: a case study
    Genet. Med. (IF 8.683) Pub Date : 2019-09-24
    Gabriel Recchia, Antonia Chiappi, Gemma Chandratillake, Lucy Raymond, Alexandra L. J. Freeman

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    更新日期:2019-09-23
  • Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update
    Genet. Med. (IF 8.683) Pub Date : 2019-09-19
    Jan Verheijen, Shawn Tahata, Tamas Kozicz, Peter Witters, Eva Morava
    更新日期:2019-09-19
  • Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
    Genet. Med. (IF 8.683) Pub Date : 2019-09-19
    Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora J. H. Bean, Arunkanth Ankala, Daniela Del Gaudio, Amy Knight Johnson, Lisa M. Vincent, Caitlin Reavey, Amy Lai, Gabriele Richard, Jeanne M. Meck
    更新日期:2019-09-19
Contents have been reproduced by permission of the publishers.
导出
全部期刊列表>>
2020新春特辑
限时免费阅读临床医学内容
ACS材料视界
科学报告最新纳米科学与技术研究
清华大学化学系段昊泓
自然科研论文编辑服务
中国科学院大学楚甲祥
上海纽约大学William Glover
中国科学院化学研究所
课题组网站
X-MOL
北京大学分子工程苏南研究院
华东师范大学分子机器及功能材料
中山大学化学工程与技术学院
试剂库存
天合科研
down
wechat
bug