Pub Date : 2026-01-20DOI: 10.1016/j.gim.2026.102070
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, Tanja Zdolsek Draksler, Dmitrijs Rots, Joyce M Geelen, Lottie D Morison, Angela T Morgan, Dorota Wicher, Sabrina Rivero, Inés Fernández-Ulibarri, Julie Drake, Anne O'Donnell Luria, Laura Pickup, Carolyn Shalhoub, Donatella Milani, Raoul C Hennekam, Birute Tumiene, Kira A Dies, Livia Garavelli, Maria Francesca Bedeschi, Alberto Danieli, Lara V van Renssen, Elizabeth E Palmer, Isabelle Grosdemouge, Kinga Hadzsiev, Lilian Bomme Ousager, Zoë Frazier, Maya Chopra, Katalin Szakszon, Lisa Ewans, Siddharth Srivastava, Nicoletta Balbo, Ettore Caterino, Annette Schenck, Ryan Smith, F Nienke Boonstra, Sietske A L van Till, Sunil K Vasireddi, Hon-Yin Brian Chung, Mirthe J Klein Haneveld, Klea Vyshka, Tjitske Kleefstra
Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 function, resulting in significant burden on affected individuals and their families. The current shortage of and globally scattered syndrome-specific knowledge has led to significant disparities in the access to and provision of evidence-based and individual-centered expert care. To address the challenges and improve outcomes for individuals with KLEFS1, an international KLEFS1 guideline consortium was formed consisting of 43 participants, both clinical experts and patient-representatives, from 15 different countries. The primary goal of the consortium was to develop a comprehensive and high-quality guideline for KLEFS1, aiming to enhance patient care, establish a uniform minimum international standard of care, and support decision-making. The current clinical guideline is evidence-based and includes 66 tailored recommendations to improve KLEFS1 care. The comprehensive methodological approach ensures broad consensus and supports effective implementation. Furthermore, this guideline serves as a valuable methodological model for guideline development in the context of rare disorders.
{"title":"International Clinical Evidence-based Guideline for Kleefstra Syndrome.","authors":"Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, Tanja Zdolsek Draksler, Dmitrijs Rots, Joyce M Geelen, Lottie D Morison, Angela T Morgan, Dorota Wicher, Sabrina Rivero, Inés Fernández-Ulibarri, Julie Drake, Anne O'Donnell Luria, Laura Pickup, Carolyn Shalhoub, Donatella Milani, Raoul C Hennekam, Birute Tumiene, Kira A Dies, Livia Garavelli, Maria Francesca Bedeschi, Alberto Danieli, Lara V van Renssen, Elizabeth E Palmer, Isabelle Grosdemouge, Kinga Hadzsiev, Lilian Bomme Ousager, Zoë Frazier, Maya Chopra, Katalin Szakszon, Lisa Ewans, Siddharth Srivastava, Nicoletta Balbo, Ettore Caterino, Annette Schenck, Ryan Smith, F Nienke Boonstra, Sietske A L van Till, Sunil K Vasireddi, Hon-Yin Brian Chung, Mirthe J Klein Haneveld, Klea Vyshka, Tjitske Kleefstra","doi":"10.1016/j.gim.2026.102070","DOIUrl":"https://doi.org/10.1016/j.gim.2026.102070","url":null,"abstract":"<p><p>Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 function, resulting in significant burden on affected individuals and their families. The current shortage of and globally scattered syndrome-specific knowledge has led to significant disparities in the access to and provision of evidence-based and individual-centered expert care. To address the challenges and improve outcomes for individuals with KLEFS1, an international KLEFS1 guideline consortium was formed consisting of 43 participants, both clinical experts and patient-representatives, from 15 different countries. The primary goal of the consortium was to develop a comprehensive and high-quality guideline for KLEFS1, aiming to enhance patient care, establish a uniform minimum international standard of care, and support decision-making. The current clinical guideline is evidence-based and includes 66 tailored recommendations to improve KLEFS1 care. The comprehensive methodological approach ensures broad consensus and supports effective implementation. Furthermore, this guideline serves as a valuable methodological model for guideline development in the context of rare disorders.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"102070"},"PeriodicalIF":6.2,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-19DOI: 10.1016/j.gim.2026.101686
Zarnab Saleem, Jawairya Muhammad Hussain, Qurat-Ul-Ain Siddiqui, Sarah Zuberi
{"title":"Correspondence on \"Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 Reveals a clinically recognizable syndrome\" by Valenzuela et al.","authors":"Zarnab Saleem, Jawairya Muhammad Hussain, Qurat-Ul-Ain Siddiqui, Sarah Zuberi","doi":"10.1016/j.gim.2026.101686","DOIUrl":"https://doi.org/10.1016/j.gim.2026.101686","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101686"},"PeriodicalIF":6.2,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146029348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-19DOI: 10.1016/j.gim.2026.101687
Irene Valenzuela, Marta Codina-Solà, Eduardo F Tizzano
{"title":"Response to Saleem et al.","authors":"Irene Valenzuela, Marta Codina-Solà, Eduardo F Tizzano","doi":"10.1016/j.gim.2026.101687","DOIUrl":"https://doi.org/10.1016/j.gim.2026.101687","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101687"},"PeriodicalIF":6.2,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146029368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-10DOI: 10.1016/j.gim.2026.101684
Salma Shickh, Katharine Fooks, Viji Venkataramanan, Meryl Acker, Karen V MacDonald, Trevor A Seeger, Meredith Gillespie, Taila Hartley, Kym M Boycott, Francois Bernier, Deborah A Marshall, Robin Z Hayeems
Purpose: We characterized dimensions of clinical utility in a prospective, observational cohort of patients with rare diseases undergoing genome sequencing (GS).
Methods: Clinical utility data (diagnostic, clinical management, and research recommended, avoided, or pursued for index cases and relatives) were collected from medical records and summarized using descriptive statistics. A multivariable regression model characterized factors associated with each type of utility, reported as odds ratios with 95% confidence intervals.
Results: Among 715 cases who underwent GS, results triggered diagnostic investigations in 17.5%, clinical management activities in 35.8%, research opportunities in 30.8%, and genetic counseling/testing for relatives in 19.0%. Results also limited diagnostic investigations in 87.9%. Regression analyses identified clinical, geographic, and ethnicity-related factors as significantly associated with utility. Diagnostic/potentially diagnostic results increased odds of changes in diagnostic investigations, management, and genetic testing recommendations for relatives. Patients from larger sites had higher odds of management or research recommendations and patients of non-European ethnicity were less likely to pursue recommendations.
Conclusion: Our findings provide evidence that GS has clinical utility beyond diagnostic care, including management, research, as well as familial care and preventing unnecessary medical activity. To determine which factors are associated with utility, multiple dimensions of care and broad sociodemographic factors warrant consideration.
{"title":"A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort.","authors":"Salma Shickh, Katharine Fooks, Viji Venkataramanan, Meryl Acker, Karen V MacDonald, Trevor A Seeger, Meredith Gillespie, Taila Hartley, Kym M Boycott, Francois Bernier, Deborah A Marshall, Robin Z Hayeems","doi":"10.1016/j.gim.2026.101684","DOIUrl":"10.1016/j.gim.2026.101684","url":null,"abstract":"<p><strong>Purpose: </strong>We characterized dimensions of clinical utility in a prospective, observational cohort of patients with rare diseases undergoing genome sequencing (GS).</p><p><strong>Methods: </strong>Clinical utility data (diagnostic, clinical management, and research recommended, avoided, or pursued for index cases and relatives) were collected from medical records and summarized using descriptive statistics. A multivariable regression model characterized factors associated with each type of utility, reported as odds ratios with 95% confidence intervals.</p><p><strong>Results: </strong>Among 715 cases who underwent GS, results triggered diagnostic investigations in 17.5%, clinical management activities in 35.8%, research opportunities in 30.8%, and genetic counseling/testing for relatives in 19.0%. Results also limited diagnostic investigations in 87.9%. Regression analyses identified clinical, geographic, and ethnicity-related factors as significantly associated with utility. Diagnostic/potentially diagnostic results increased odds of changes in diagnostic investigations, management, and genetic testing recommendations for relatives. Patients from larger sites had higher odds of management or research recommendations and patients of non-European ethnicity were less likely to pursue recommendations.</p><p><strong>Conclusion: </strong>Our findings provide evidence that GS has clinical utility beyond diagnostic care, including management, research, as well as familial care and preventing unnecessary medical activity. To determine which factors are associated with utility, multiple dimensions of care and broad sociodemographic factors warrant consideration.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101684"},"PeriodicalIF":6.2,"publicationDate":"2026-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01Epub Date: 2026-01-06DOI: 10.1016/j.gim.2025.101602
Wendy E. Smith, Susan A. Berry, Kaitlyn Bloom, Christine Brown, Barbara K. Burton, Olivia M. Demarest, Gabrielle P. Jenkins, Jennifer Malinowski, Kim L. McBride, H. Joel Mroczkowski, Curt Scharfe, Jerry Vockley, ACMG Board of Directors
{"title":"Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","authors":"Wendy E. Smith, Susan A. Berry, Kaitlyn Bloom, Christine Brown, Barbara K. Burton, Olivia M. Demarest, Gabrielle P. Jenkins, Jennifer Malinowski, Kim L. McBride, H. Joel Mroczkowski, Curt Scharfe, Jerry Vockley, ACMG Board of Directors","doi":"10.1016/j.gim.2025.101602","DOIUrl":"10.1016/j.gim.2025.101602","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101602"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145932937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01Epub Date: 2026-01-06DOI: 10.1016/j.gim.2025.101627
Joël Zlotogora
{"title":"Correspondence on “What’s in a name? Issues to consider when naming Mendelian disorders” by Rasmussen et al","authors":"Joël Zlotogora","doi":"10.1016/j.gim.2025.101627","DOIUrl":"10.1016/j.gim.2025.101627","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101627"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145932922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01Epub Date: 2025-10-24DOI: 10.1016/j.gim.2025.101618
Lilian Downie , Julie Yeo , Thomas Minten , Rose Heald , Derek Ansel , Mei Baker , Jorune Balciuniene , Jonathan S. Berg , François Boemer , Wendy K. Chung , Heidi L. Cope , David J. Eckstein , Nicolas Encina , Laurence Faivre , Alessandra Ferlini , Judit García-Villoria , Michael H. Gelb , José Manuel González De Aledo-Castillo , Katie Golden-Grant , Richard B. Parad , Nina B. Gold
Purpose
For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for updated recommendations to address the opportunities and complexities of genomic data.
Methods
The International Consortium on Newborn Sequencing includes leaders from over 16 research projects investigating genomic NBS across the United Kingdom, Europe, United States, and Oceania. Consortium members were invited to participate in a modified Delphi study, aggregating opinion on the selection of conditions for genomic NBS through 3 rounds of online questionnaires, with feedback provided to participants between rounds.
Results
In round 1, 94 participants completed the questionnaire, and 10 of 43 statements reached consensus. In round 2, 81 participants completed the questionnaire, and 14 of 27 statements reached consensus. In round 3, 68 participants completed the questionnaire, and all 10 statements reached 72% or more consensus.
Conclusion
The 10 consensus recommendations developed in this study can guide future research and public health programs performing genomic NBS. This process also identified key areas of participant discordance, highlighting important topics for future research.
{"title":"Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing","authors":"Lilian Downie , Julie Yeo , Thomas Minten , Rose Heald , Derek Ansel , Mei Baker , Jorune Balciuniene , Jonathan S. Berg , François Boemer , Wendy K. Chung , Heidi L. Cope , David J. Eckstein , Nicolas Encina , Laurence Faivre , Alessandra Ferlini , Judit García-Villoria , Michael H. Gelb , José Manuel González De Aledo-Castillo , Katie Golden-Grant , Richard B. Parad , Nina B. Gold","doi":"10.1016/j.gim.2025.101618","DOIUrl":"10.1016/j.gim.2025.101618","url":null,"abstract":"<div><h3>Purpose</h3><div>For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for updated recommendations to address the opportunities and complexities of genomic data.</div></div><div><h3>Methods</h3><div>The International Consortium on Newborn Sequencing includes leaders from over 16 research projects investigating genomic NBS across the United Kingdom, Europe, United States, and Oceania. Consortium members were invited to participate in a modified Delphi study, aggregating opinion on the selection of conditions for genomic NBS through 3 rounds of online questionnaires, with feedback provided to participants between rounds.</div></div><div><h3>Results</h3><div>In round 1, 94 participants completed the questionnaire, and 10 of 43 statements reached consensus. In round 2, 81 participants completed the questionnaire, and 14 of 27 statements reached consensus. In round 3, 68 participants completed the questionnaire, and all 10 statements reached 72% or more consensus.</div></div><div><h3>Conclusion</h3><div>The 10 consensus recommendations developed in this study can guide future research and public health programs performing genomic NBS. This process also identified key areas of participant discordance, highlighting important topics for future research.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101618"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145577363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01Epub Date: 2025-10-01DOI: 10.1016/j.gim.2025.101595
Katharina Valentin , Monika Kustermann , Mona R. Schneider , Haleh Aminfar , Kathrin Vollnhofer , Andreas Wedrich , Christoph Stapf , Martin Bertich , Markus Ritter , Theresa Mendrina , Daniel Valcanover , Walter Berger , Margret Eckhard , Andy Sombke , Stephanie V. Lilja , Amina Paquay , Bernhard Rosensteiner , Iris Schmidt , Reginald E. Bittner , Thomas P. Georgi , Wolfgang M. Schmidt
Purpose
Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For many affected individuals, however, a genetic cause still cannot be identified.
Methods
In a large pedigree and additional families, exome sequencing was used to identify a genetic cause in individuals with so far genetically unresolved OA. Subsequently, mitochondrial function was studied in cultured dermal fibroblasts.
Results
Exome sequencing revealed a heterozygous missense variant in PPIB [NM_000942.5:c.538C>T p.(Arg180Trp)], encoding peptidylprolyl isomerase B, which segregated with clinically isolated OA in 19 individuals from 9 families. PPIB-associated OA involves an insidious reduction in visual acuity, central scotoma, and inner retinal layer thinning consistent with other autosomal dominant OAs. Age of symptom onset was mostly in adulthood (median: 36 years), and severity of clinical manifestation was variable. Patient-derived fibroblasts revealed altered mitochondrial morphology, as well as subtle respiratory chain defects.
Conclusion
The PPIB variant segregates with OA, which might be caused by compromised mitochondrial function. Although future studies are needed to study the exact pathomechanistic role of PPIB, insights from this work broaden the knowledge of genes implicated in autosomal dominant OA.
{"title":"A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy","authors":"Katharina Valentin , Monika Kustermann , Mona R. Schneider , Haleh Aminfar , Kathrin Vollnhofer , Andreas Wedrich , Christoph Stapf , Martin Bertich , Markus Ritter , Theresa Mendrina , Daniel Valcanover , Walter Berger , Margret Eckhard , Andy Sombke , Stephanie V. Lilja , Amina Paquay , Bernhard Rosensteiner , Iris Schmidt , Reginald E. Bittner , Thomas P. Georgi , Wolfgang M. Schmidt","doi":"10.1016/j.gim.2025.101595","DOIUrl":"10.1016/j.gim.2025.101595","url":null,"abstract":"<div><h3>Purpose</h3><div>Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For many affected individuals, however, a genetic cause still cannot be identified.</div></div><div><h3>Methods</h3><div>In a large pedigree and additional families, exome sequencing was used to identify a genetic cause in individuals with so far genetically unresolved OA. Subsequently, mitochondrial function was studied in cultured dermal fibroblasts.</div></div><div><h3>Results</h3><div>Exome sequencing revealed a heterozygous missense variant in <em>PPIB</em> [NM_000942.5:c.538C>T p.(Arg180Trp)], encoding peptidylprolyl isomerase B, which segregated with clinically isolated OA in 19 individuals from 9 families. <em>PPIB</em>-associated OA involves an insidious reduction in visual acuity, central scotoma, and inner retinal layer thinning consistent with other autosomal dominant OAs. Age of symptom onset was mostly in adulthood (median: 36 years), and severity of clinical manifestation was variable. Patient-derived fibroblasts revealed altered mitochondrial morphology, as well as subtle respiratory chain defects.</div></div><div><h3>Conclusion</h3><div>The <em>PPIB</em> variant segregates with OA, which might be caused by compromised mitochondrial function. Although future studies are needed to study the exact pathomechanistic role of <em>PPIB</em>, insights from this work broaden the knowledge of genes implicated in autosomal dominant OA.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101595"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145225233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01Epub Date: 2026-01-06DOI: 10.1016/j.gim.2025.101616
Sanjana Basava , William B. Dobyns
{"title":"Response to Kane and Coleman","authors":"Sanjana Basava , William B. Dobyns","doi":"10.1016/j.gim.2025.101616","DOIUrl":"10.1016/j.gim.2025.101616","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101616"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145932977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-01Epub Date: 2026-01-06DOI: 10.1016/j.gim.2025.101601
Wendy E. Smith , Barbara K. Burton , Christine Brown , Jennifer Malinowski , Kim L. McBride , Jerry Vockley
{"title":"Response to Burgard et al","authors":"Wendy E. Smith , Barbara K. Burton , Christine Brown , Jennifer Malinowski , Kim L. McBride , Jerry Vockley","doi":"10.1016/j.gim.2025.101601","DOIUrl":"10.1016/j.gim.2025.101601","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101601"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号