Subscribe
Log In More

Log in via Institution
Log in via OpenAthens
Log in via CCMG

Log in using your username and password
For personal accounts OR managers of institutional accounts

Username *

Password *

Forgot your log in details?Register a new account?
Forgot your user name or password?
Basket
Search More

Search for this keyword

Advanced search

Close More
Main menu

Latest content

Current issue

Archive

Authors

About
Subscribe
Log in More

Log in via Institution
Log in via OpenAthens
Log in via CCMG

Log in using your username and password
For personal accounts OR managers of institutional accounts

Username *

Password *

Forgot your log in details?Register a new account?
Forgot your user name or password?
BMJ Journals More

Online First

December 15, 2020

Cognitive and behavioural genetics
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco

doi: 10.1136/jmedgenet-2020-107281
Genotype-phenotype correlations
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

Xiaoshan Tang, Cuihua Liu, Xiaorong Liu, Jing Chen, Xiaoyan Fan, Jialu Liu, Duan Ma, Guanghai Cao, Zhi Chen, Daliang Xu, Ying Zhu, Xiaoyun Jiang, Lizhi Cheng, Yubing Wu, Ling Hou, Yuhong Li, Xiaoshan Shao, Shasha Zheng, Aihua Zhang, Bixia Zheng, Shan Jian, Zanhua Rong, Qingxiao Su, Xia Gao, Jia Rao, Qian Shen, Hong Xu, Chinese Children Genetic Kidney Disease Database (CCGKDD) “Internet Plus” Nephrology Alliance of the National Center for Children’s Care

doi: 10.1136/jmedgenet-2020-107184

December 14, 2020

Biochemical genetics
Dysfunction of VIPR2 leads to myopia in humans and mice

Fuxin Zhao, Qihang Li, Wei Chen, He Zhu, Dengke Zhou, Peter Sol Reinach, Zhenglin Yang, Mingguang He, Anquan Xue, Deng Wu, Tianzi Liu, Qian Fu, Changqing Zeng, Jia Qu, Xiangtian Zhou

doi: 10.1136/jmedgenet-2020-107220
Structural variation
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

doi: 10.1136/jmedgenet-2020-107320

December 03, 2020

Cancer genetics
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

Jan Hauke, Philipp Harter, Corinna Ernst, Alexander Burges, Sandra Schmidt, Alexander Reuss, Julika Borde, Nikolaus De Gregorio, Dimo Dietrich, Ahmed El-Balat, Mohamad Kayali, Heidrun Gevensleben, Felix Hilpert, Janine Altmüller, André Heimbach, Werner Meier, Birgid Schoemig-Markiefka, Holger Thiele, Rainer Kimmig, Peter Nürnberg, Karin Kast, Lisa Richters, Jalid Sehouli, Rita K Schmutzler, Eric Hahnen

doi: 10.1136/jmedgenet-2020-107353

November 30, 2020

Genome-wide studies
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

doi: 10.1136/jmedgenet-2020-107226
Neurogenetics
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki

doi: 10.1136/jmedgenet-2020-107166

November 23, 2020

Developmental defects
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

Francisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, Somesh Kumar, Miriam Aza-Carmona, Lucia Sentchordi-Montané, Milagros Alonso, Istaq Ahmad, Sana Zahra, Deepak Kumar, Neetu Kushwah, Uzma Shamim, Haseena Sait, Seema Kapoor, Belen Roldán, Gen Nishimura, Amaka C Offiah, Mohammed Faruq, Karen E. Heath

doi: 10.1136/jmedgenet-2020-107177

November 20, 2020

Genotype-phenotype correlations
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma

Jung Hee Kim, Man Jin Kim, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong

doi: 10.1136/jmedgenet-2020-107102
Diagnostics
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

José Marcos Moreno-Cabrera, Jesús del Valle, Lidia Feliubadaló, Marta Pineda, Sara González, Olga Campos, Raquel Cuesta, Joan Brunet, Eduard Serra, Gabriel Capellà, Bernat Gel, Conxi Lázaro

doi: 10.1136/jmedgenet-2020-107366

November 18, 2020

Cancer genetics
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Emeli Pontén, Sofia Frisk, Fulya Taylan, Raquel Vaz, Sandra Wessman, Leanne de Kock, Niklas Pal, William D Foulkes, Kristina Lagerstedt-Robinson, Ann Nordgren

doi: 10.1136/jmedgenet-2020-107385
Biochemical genetics
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA^Trp and remarkable mitochondrial dysfunction

Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Dongdong Wang, Chen Zhang, Wei Li, Yuying Zhao, Chuanzhu Yan

doi: 10.1136/jmedgenet-2020-107323

November 16, 2020

Biochemical genetics
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphaël Lévy, Marco Henneke, Jutta Gärtner, Pelin Teke Kisa, Fatma Ceren Sarioglu, Uluç Yiş, Laura L Konczal, Deepika D Burkardt, Sulin Wu, Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Munnich, Nathalie Boddaert, Manuel Schiff

doi: 10.1136/jmedgenet-2020-107367
Position statement
Canadian College of Medical Geneticists (CCMG) points to consider: resuming genetic services in a pandemic—a summary
Free

Lauren Chad, Angelika J Dawson, Elaine Suk-Ying Goh

doi: 10.1136/jmedgenet-2020-107394

November 10, 2020

Functional genomics
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, SYNAPS Study Group, Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond

doi: 10.1136/jmedgenet-2020-107015

November 09, 2020

Clinical guidelines
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H Trainer, Katherine M Tucker, Gillian Mitchell, Paul A James, Robyn L Ward, Helen Mar Fan, Nicola K Poplawski, Amanda B Spurdle

doi: 10.1136/jmedgenet-2020-107140
Cancer genetics
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy

Brandie Heald, Emma Keel, Jessica Marquard, Carol A Burke, Matthew F Kalady, James M Church, David Liska, Gautam Mankaney, Karen Hurley, Charis Eng

doi: 10.1136/jmedgenet-2020-107294

October 28, 2020

Cancer genetics
Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis

Ying Ding, Yang Shao, Chenglong Na, Jiani C Yin, Hongjin Hua, Ran Tao, Yue Jiang, Ran Hu, Xiao He, Chen Miao, Dongqin Zhu, Zhihong Zhang

doi: 10.1136/jmedgenet-2020-107083
Developmental defects
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Diana Carli, Chiara Bertola, Simona Cardaropoli, Valentina Pia Ciuffreda, Marta Pieretto, Giovanni Battista Ferrero, Alessandro Mussa

doi: 10.1136/jmedgenet-2020-107311

October 26, 2020

Phenotypes
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli

doi: 10.1136/jmedgenet-2020-107333
Genotype-phenotype correlations
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences

Christoffer Rasmus Vissing, Torsten Bloch Rasmussen, Anne Mette Dybro, Morten Salling Olesen, Lisbeth Nørum Pedersen, Morten Jensen, Henning Bundgaard, Alex Hørby Christensen

doi: 10.1136/jmedgenet-2020-107178

October 16, 2020

Cancer genetics
A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau

Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

doi: 10.1136/jmedgenet-2020-107308
Genotype-phenotype correlations
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Yu Teranishi, Satoru Miyawaki, Hiroki Hongo, Shogo Dofuku, Atsushi Okano, Shunsaku Takayanagi, Takahiro Ota, Jun Yoshimura, Wei Qu, Jun Mitsui, Hirofumi Nakatomi, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito

doi: 10.1136/jmedgenet-2020-106973
Cancer genetics
Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19
Free

Maia Leigh Norman, Janet Malcolmson, Susan Randall Armel, Brittany Gillies, Brian Ou, Emily Thain, Jeanna Marie McCuaig, Raymond H Kim

doi: 10.1136/jmedgenet-2020-107418

October 15, 2020

Neurogenetics
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Rob Cincotta, Phillip Moon, Ben Kamien, Matthew Edwards, Martin Delatycki, Phillipa J Lamont, Sophelia HS Chan, Alison Colley, Alan Ma, Felicity Collins, Lucinda Hennington, Teresa Zhao, George McGillivray, Sondhya Ghedia, Katherine Chao, Anne O'Donnell-Luria, Nigel G Laing, Mark R Davis

doi: 10.1136/jmedgenet-2020-106901

October 13, 2020

Cancer genetics
Blood functional assay for rapid clinical interpretation of germline TP53 variants

Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur, Michael Farrell, Olivier Ingster, Stéphanie Baert Desurmont, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

doi: 10.1136/jmedgenet-2020-107059
Cognitive and behavioural genetics
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

Eungu Kang, Minji Kang, Younghee Ju, Sang-Joon Lee, Yong-Seok Lee, Dong-Cheol Woo, Young Hoon Sung, In-Jeoung Baek, Woo Hyun Shim, Woo-Chan Son, In Hee Choi, Eul-Ju Seo, Han-Wook Yoo, Yong-Mahn Han, Beom Hee Lee

doi: 10.1136/jmedgenet-2020-107111

September 29, 2020

Developmental defects
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

Noraldin Al-deri, Volkan Okur, Priyanka Ahimaz, Miroslav Milev, Zaheer Valivullah, Jacob Hagen, Yufeng Sheng, Wendy Chung, Michael Sacher, Mythily Ganapathi

doi: 10.1136/jmedgenet-2020-107016
Diagnostics
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances

doi: 10.1136/jmedgenet-2019-106714
Cancer genetics
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo, Mark M Iles, Jennifer H Barrett, Lambertus A Kiemeney, Nelleke A Gruis, Christi J van Asperen, Nienke van der Stoep

doi: 10.1136/jmedgenet-2020-107251
Genotype-phenotype correlations
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Huahua Zhong, Yiming Zheng, Zhe Zhao, Pengfei Lin, Jianying Xi, Wenhua Zhu, Jie Lin, Jun Lu, Meng Yu, Wei Zhang, He Lv, Chuanzhu Yan, Jing Hu, Zhaoxia Wang, Jiahong Lu, Chongbo Zhao, Yun Yuan, Sushan Luo

doi: 10.1136/jmedgenet-2020-107159

September 25, 2020

Diagnostics
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era

Zhiying Xie, Chengyue Sun, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Gao Wang, Diana M Cornejo-Sanchez, Thashi Bharadwaj, Jin Yan, Lingxiang Zhang, Nicolas Pineda-Trujillo, Wei Zhang, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan

doi: 10.1136/jmedgenet-2020-107113

September 22, 2020

Cancer genetics
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations

Shanmuga Priya Bhaskaran, Teng Huang, Barani Kumar Rajendran, Maoni Guo, Jiangtao Luo, Zixin Qin, Bojin Zhao, Jiasheng Chian, Suicheng Li, San Ming Wang

doi: 10.1136/jmedgenet-2020-107299
Biochemical genetics
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

doi: 10.1136/jmedgenet-2020-107162

September 17, 2020

Phenotypes
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

Adela Chirita-Emandi, Nicoleta Andreescu, Cristina Popa, Alexandra Mihailescu, Anca-Lelia Riza, Razvan Plesea, Mihai Ioana, Smaranda Arghirescu, Maria Puiu

doi: 10.1136/jmedgenet-2020-107198

September 16, 2020

Novel disease loci
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Nayeralsadat Fatemi, Najmeh Salehi, Laura Pignata, Pietro Palumbo, Maria Vittoria Cubellis, Fariba Ramazanali, Pierre Ray, Maryam Varkiani, Fakhreddin Reyhani-Sabet, Alireza Biglari, Angela Sparago, Basilia Acurzio, Orazio Palumbo, Massimo Carella, Andrea Riccio, Mehdi Totonchi

doi: 10.1136/jmedgenet-2020-106909

September 11, 2020

Genotype-phenotype correlations
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

Mareike Dahmer-Heath, Valentin Schriever, Sabine Kollmann, Carolin Schleithoff, Andrea Titieni, Metin Cetiner, Ludwig Patzer, Burkhard Tönshoff, Matthias Hansen, Petra Pennekamp, Joachim Gerß, Martin Konrad, Jens König

doi: 10.1136/jmedgenet-2020-107192
Functional genomics
Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways

William Schierding, Julia A Horsfield, Justin M O'Sullivan

doi: 10.1136/jmedgenet-2020-107095
Cancer genetics
Assessment of mismatch repair deficiency in ovarian cancer

Emma J Crosbie, Neil A J Ryan, Rhona J McVey, Fiona Lalloo, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Andrew J Wallace, Raymond F McMahon, D Gareth Evans

doi: 10.1136/jmedgenet-2020-107270
Cancer genetics
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)

Zerin Hyder, Adele Fairclough, Mike Groom, Joan Getty, Elizabeth Alexander, Elke M van Veen, Guy Makin, Chitra Sethuraman, Vivian Tang, D Gareth Evans, Eamonn R Maher, Emma R Woodward

doi: 10.1136/jmedgenet-2020-107087

September 08, 2020

Complex traits
Convergent lines of evidence support NOTCH4 as a schizophrenia risk gene

Yan Zhang, Shiwu Li, Xiaoyan Li, Yongfeng Yang, Wenqiang Li, Xiao Xiao, Ming Li, Luxian Lv, XiongJian Luo

doi: 10.1136/jmedgenet-2020-106830
Gametes
Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

Chencheng Yao, Chao Yang, Liangyu Zhao, Peng Li, Ruhui Tian, Huixing Chen, Ying Guo, Yuhua Huang, Erlei Zhi, Jing Zhai, Hongfang Sun, Jianxiong Zhang, Yan Hong, Li Zhang, Zhiyong Ji, Feng Zhang, Zhi Zhou, Zheng Li

doi: 10.1136/jmedgenet-2020-107042
Novel disease loci
Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome

Silke Peeters, Arne Decramer, Stuart Alan Cain, Peter Houpt, Frederik Verstreken, Jan Noyez, Christophe Hermans, Werner Jacobs, Martin Lammens, Erik Fransen, Ajay Anand Kumar, Geert Vandeweyer, Bart Loeys, Wim Van Hul, Clair Baldock, Eveline Boudin, Geert Mortier

doi: 10.1136/jmedgenet-2020-107085
Phenotypes
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports

Mostafa El Hajjam, Ahmed Mekki, Aurelien Palmyre, Melanie Eyries, Florent Soubrier, Isabelle Bourgault Villada, Augustin Ozanne, Robert Yves Carlier, Thierry Chinet

doi: 10.1136/jmedgenet-2019-106792

August 25, 2020

Diagnostics
Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

doi: 10.1136/jmedgenet-2020-107003
Genotype-phenotype correlations
Determinants of quality of life in Rett syndrome: new findings on associations with genotype

Jonathan Mendoza, Jenny Downs, Kingsley Wong, Helen Leonard

doi: 10.1136/jmedgenet-2020-107120

August 20, 2020

Neurogenetics
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei

doi: 10.1136/jmedgenet-2020-106987
Neurogenetics
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment

Pingping Song, Yuqing Guan, Xia Chen, Chaochen Wu, An Qiao, Haishan Jiang, Qi Li, Yingwei Huang, Wei Huang, Miaojing Xu, Ouattara Niemtiah, Chao Yuan, Wei Li, Liang Zhou, Zhongju Xiao, Suyue Pan, Yafang Hu

doi: 10.1136/jmedgenet-2020-106925
Novel disease loci
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau

doi: 10.1136/jmedgenet-2020-107137

August 17, 2020

Phenotypes
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1

Svenja Alter, Andreas David Zimmer, Misun Park, Jianli Gong, Almuth Caliebe, Regina Fölster-Holst, Antonio Torrelo, Isabel Colmenero, Susan F Steinberg, Judith Fischer

doi: 10.1136/jmedgenet-2019-106564

Log in using your username and password

Main menu

Log in using your username and password

You are here

Online First

December 15, 2020

December 14, 2020

December 03, 2020

November 30, 2020

November 23, 2020

November 20, 2020

November 18, 2020

November 16, 2020

November 10, 2020

November 09, 2020

October 28, 2020

October 26, 2020

October 16, 2020

October 15, 2020

October 13, 2020

September 29, 2020

September 25, 2020

September 22, 2020

September 17, 2020

September 16, 2020

September 11, 2020

September 08, 2020

August 25, 2020

August 20, 2020

August 17, 2020

Pages