European journal of human genetics : EJHG

Keyphrases

Publications

volume 32, number 8, 2024

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Nadya S Andhika, Susmito Biswas, Claire Hardcastle, David J Green, Simon C Ramsden, Ewan Birney, Graeme C M Black, Panagiotis I Sergouniotis
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene. European journal of human genetics : EJHG 32 (8) (2024)
Amanda Massmann, Kurt D Christensen, Joel Van Heukelom, April Schultz, Muhammad Hamza Saad Shaukat, Catherine Hajek, Max Weaver, Robert C Green, Ann Chen Wu, Madison R Hickingbotham, Emilie S Zoltick, Adam Stys, Tomasz P Stys
Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting. European journal of human genetics : EJHG 32 (8) (2024)
Marta Baptista Freitas, Laurence Desmyter, Cindy Badoer, Guillaume Smits, Isabelle Vandernoot, Daphné T Kint de Roodenbeke
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program. European journal of human genetics : EJHG 32 (8) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Huairen Zhang, Avgi Andreou, Rupesh Bhatt, James Whitworth, Bryndis Yngvadottir, Eamonn R Maher
Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review. European journal of human genetics : EJHG 32 (8) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta Mohan Girisha
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. European journal of human genetics : EJHG 32 (8) (2024)
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG 32 (8) (2024)
Lisanne E N Manson, Marga Nijenhuis, Bianca Soree, Nienke J de Boer-Veger, Anne-Marie Buunk, Elisa J F Houwink, Arne Risselada, Gerard A P J M Rongen, Ron H N van Schaik, Jesse Joachim Swen, Daniel J Touw, Roos van Westrhenen, Vera H M Deneer, Henk-Jan Guchelaar
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs. European journal of human genetics : EJHG 32 (8) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 32 (8) (2024)
Alisdair McNeill
Summer reading in EJHG. European journal of human genetics : EJHG 32 (8) (2024)
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L Taylor, Malte Spielmann, Tobias B Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. European journal of human genetics : EJHG 32 (8) (2024)
Huairen Zhang, Avgi Andreou, Rupesh Bhatt, James Whitworth, Bryndis Yngvadottir, Eamonn R Maher
Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review. European journal of human genetics : EJHG 32 (8) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG 32 (8) (2024)
João Manoel Miranda Magalhães Santos, Priya Dave, Yelena M Kemel, Rania Sheikh, Grace Zong, Lina Posada Calderon, Marie Will, Ying L Liu, Michael F Walsh, Zsofia K Stadler, Kenneth Offit, Alicia Latham, Diana Mandelker, Ying-Bei Chen, Pamela Causa Andrieu, Maria Isabel Carlo
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series. European journal of human genetics : EJHG 32 (8) (2024)
Lisanne E N Manson, Marga Nijenhuis, Bianca Soree, Nienke J de Boer-Veger, Anne-Marie Buunk, Elisa J F Houwink, Arne Risselada, Gerard A P J M Rongen, Ron H N van Schaik, Jesse Joachim Swen, Daniel J Touw, Roos van Westrhenen, Vera H M Deneer, Henk-Jan Guchelaar
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs. European journal of human genetics : EJHG 32 (8) (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG 32 (8) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Alisdair McNeill
Summer reading in EJHG. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Amanda Massmann, Kurt D Christensen, Joel Van Heukelom, April Schultz, Muhammad Hamza Saad Shaukat, Catherine Hajek, Max Weaver, Robert C Green, Ann Chen Wu, Madison R Hickingbotham, Emilie S Zoltick, Adam Stys, Tomasz P Stys
Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting. European journal of human genetics : EJHG 32 (8) (2024)
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas David Zimmer, Julia Ritter, Bernhard Heinrich Friedrich Weber, Ellen Honisch, Karl Hackmann, null null, Gunnar Schmidt, Marc Sturm, Corinna Ernst
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 32 (8) (2024)
João Manoel Miranda Magalhães Santos, Priya Dave, Yelena M Kemel, Rania Sheikh, Grace Zong, Lina Posada Calderon, Marie Will, Ying L Liu, Michael F Walsh, Zsofia K Stadler, Kenneth Offit, Alicia Latham, Diana Mandelker, Ying-Bei Chen, Pamela Causa Andrieu, Maria Isabel Carlo
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series. European journal of human genetics : EJHG 32 (8) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Marta Baptista Freitas, Laurence Desmyter, Cindy Badoer, Guillaume Smits, Isabelle Vandernoot, Daphné T Kint de Roodenbeke
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program. European journal of human genetics : EJHG 32 (8) (2024)

volume 32, number 9, 2024

Kévin Uguen, Jacques L Michaud, French Exome Consortium
Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases. European journal of human genetics : EJHG 32 (9) (2024)
Zachary T Sentell, Zachary W Nurcombe, Lina Mougharbel, Natascia Anastasio, Jean-Baptiste Rivière, Sima Babayeva, Paul R Goodyer, Elena Torban, Thomas M Kitzler
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis. European journal of human genetics : EJHG 32 (9) (2024)
Venugopalan Yamuna Vishnu, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Tanveer Ahmad, Patrick J van der Vliet, Marcelina M Kretkiewicz, William L Macken, Stephanie Efthymiou, Natalia Dominik, Jasper M Morrow, Rohit Bhatia, Lindsay A Wilson, Henry Houlden, Michael G Hanna, Enrico Bugiardini, Silvère M van der Maarel, Madakasira Vasantha Padma Srivastava
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. European journal of human genetics : EJHG 32 (9) (2024)
Molly Parfett, Faye Johnson, Rebecca Bennett, Fiona M Ulph
Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study. European journal of human genetics : EJHG 32 (9) (2024)
Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG 32 (9) (2024)
Alisdair McNeill
Genomic technologies identify milder presentations of Mendelian disease. European journal of human genetics : EJHG 32 (9) (2024)
Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P Patel, Paul Griffin, Steven Muller, Siobhán B Carr, Michael R Loebinger, Jane S A Lucas, Anand Shah, Ricardo Jose, Hannah M Mitchison, Amelia Shoemark, Danny E Miller, Deborah J Morris-Rosendahl
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia. European journal of human genetics : EJHG 32 (9) (2024)
Xuechen Tang, Nadine Jasmin Ortner, Yuliia V Nikonishyna, Monica L I Fernández-Quintero, Janik Kokot, Alexandra Pinggera, Klaus Roman Liedl
Pathogenicity of de novo CACNA1D Ca 2+ channel variants predicted from sequence co-variation. European journal of human genetics : EJHG 32 (9) (2024)
Rodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, Rachel Slaugh, Dawn Easterlin, Victoria Tate, Eleanor I Sams, Kostandin Valle, Titilope Akinwe, Ying-Chen Claire Hou, Tychele N Turner, F Sessions Cole, Jeffrey Milbrandt, Patricia Dickson
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome. European journal of human genetics : EJHG 32 (9) (2024)
Elizabeth Ormondroyd, Christopher Grace, Wendy Borsari, Anuj Goel, Barbara McDonough, Joel Rose, Christine E Seidman, Hugh C Watkins
Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project. European journal of human genetics : EJHG 32 (9) (2024)
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG 32 (9) (2024)
Natalia V Balinova, Georgi Hudjašov, Vasili Pankratov, Erwan Pennarun, Maere Reidla, Ene Metspalu, Valery Batyrov, Irina Khomyakova, Tuuli Reisberg, Jüri Parik, Murat Dzhaubermezov, Elena Aiyzhy, Altana Balinova, Galina El'chinova, Nailya Spitsyna, Elza K Khusnutdinova, Mait Metspalu, Kristiina Tambets, Richard Villems, Alena Kushniarevich
Gene pool preservation across time and space In Mongolian-speaking Oirats. European journal of human genetics : EJHG 32 (9) (2024)
Fatoumata Faye, Claudia Crocione, Roberta Anido de Peña, Simona Bellagambi, Luciana Escati Peñaloza, Amy Hunter, Lene Jensen, Cor Oosterwijk, Eva Schoeters, Daniel de Vicente, Laurence Faivre, Michael Wilbur, Yann Le Cam, Jessie Dubief
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. European journal of human genetics : EJHG 32 (9) (2024)
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, Dhiren Gupta, Arun Soni, Renu Saxena, Sunita Bijarnia Mahay, Ishwar Chandar Verma, Ratna Dua Puri
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder. European journal of human genetics : EJHG 32 (9) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG 32 (9) (2024)