Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R Kianmahd, Anna Yu, Lauren Chad, Gregory Costain, Wen-Hann Tan, Stephen W Scherer, Valerie A Arboleda, Bianca E Russell, Rosanna Weksberg. Eur J Hum Genet 2022
Times Cited: 2
Times Cited: 2
Times Cited
Times Co-cited
Similarity
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, Vincent Gatinois, Mouna Barat-Houari, Elodie Sanchez, Didier Lacombe, Stéphanie Arpin, Fabienne Giuliano, Damien Haye,[...]. Eur J Hum Genet 2022
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, Vincent Gatinois, Mouna Barat-Houari, Elodie Sanchez, Didier Lacombe, Stéphanie Arpin, Fabienne Giuliano, Damien Haye,[...]. Eur J Hum Genet 2022
100
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Romain Nicolle, Karine Siquier-Pernet, Marlène Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschke, Christine Bole-Feysot, Serge Romana, Alex Hastie, Vincent Cantagrel,[...]. Eur J Hum Genet 2022
Romain Nicolle, Karine Siquier-Pernet, Marlène Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschke, Christine Bole-Feysot, Serge Romana, Alex Hastie, Vincent Cantagrel,[...]. Eur J Hum Genet 2022
50
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.
Shushu Zhou, Huan Wu, Jintao Zhang, Xiaojin He, Siyu Liu, Ping Zhou, Rong Hua, Yunxia Cao, Mingxi Liu. Eur J Hum Genet 2022
Shushu Zhou, Huan Wu, Jintao Zhang, Xiaojin He, Siyu Liu, Ping Zhou, Rong Hua, Yunxia Cao, Mingxi Liu. Eur J Hum Genet 2022
50
Non-invasive prenatal testing (NIPT) and pregnant women's views on good motherhood: a qualitative study.
Elisa Garcia, Lidewij Henneman, Janneke T Gitsels-van der Wal, Linda Martin, Isabel Koopmanschap, Mireille N Bekker, Danielle R M Timmermans. Eur J Hum Genet 2022
Elisa Garcia, Lidewij Henneman, Janneke T Gitsels-van der Wal, Linda Martin, Isabel Koopmanschap, Mireille N Bekker, Danielle R M Timmermans. Eur J Hum Genet 2022
50
Mosaicism in PTEN-new case and comment on the literature.
Paula Rofes, Álex Teulé, Lídia Feliubadaló, Mònica Salinas, Raquel Cuesta, Sílvia Iglesias, Olga Campos, Sara González, Gabriel Capellá, Joan Brunet,[...]. Eur J Hum Genet 2022
Paula Rofes, Álex Teulé, Lídia Feliubadaló, Mònica Salinas, Raquel Cuesta, Sílvia Iglesias, Olga Campos, Sara González, Gabriel Capellá, Joan Brunet,[...]. Eur J Hum Genet 2022
50
Gene-lifestyle interactions in the genomics of human complex traits.
Vincent Laville, Timothy Majarian, Yun J Sung, Karen Schwander, Mary F Feitosa, Daniel I Chasman, Amy R Bentley, Charles N Rotimi, L Adrienne Cupples, Paul S de Vries,[...]. Eur J Hum Genet 2022
Vincent Laville, Timothy Majarian, Yun J Sung, Karen Schwander, Mary F Feitosa, Daniel I Chasman, Amy R Bentley, Charles N Rotimi, L Adrienne Cupples, Paul S de Vries,[...]. Eur J Hum Genet 2022
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The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review.
Adeline Perrot, Ruth Horn. Eur J Hum Genet 2022
Adeline Perrot, Ruth Horn. Eur J Hum Genet 2022
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The need for recognition of core professional groups in genetics healthcare services in Europe.
Milena Paneque, Thomas Liehr, Clara Serra Juhé, Ute Moog, Bela Melegh, Isabel Carreira. Eur J Hum Genet 2022
Milena Paneque, Thomas Liehr, Clara Serra Juhé, Ute Moog, Bela Melegh, Isabel Carreira. Eur J Hum Genet 2022
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Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.
Maria S Protasova, Fedor E Gusev, Tatiana V Andreeva, Sergey A Klyushnikov, Sergey N Illarioshkin, Evgeny I Rogaev. Eur J Hum Genet 2022
Maria S Protasova, Fedor E Gusev, Tatiana V Andreeva, Sergey A Klyushnikov, Sergey N Illarioshkin, Evgeny I Rogaev. Eur J Hum Genet 2022
100
Understanding the assumptions underlying Mendelian randomization.
Christiaan de Leeuw, Jeanne Savage, Ioan Gabriel Bucur, Tom Heskes, Danielle Posthuma. Eur J Hum Genet 2022
Christiaan de Leeuw, Jeanne Savage, Ioan Gabriel Bucur, Tom Heskes, Danielle Posthuma. Eur J Hum Genet 2022
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Routinization of prenatal screening with the non-invasive prenatal test: pregnant women's perspectives.
Karuna R M van der Meij, Annabel Njio, Linda Martin, Janneke T Gitsels-van der Wal, Mireille N Bekker, Elsbeth H van Vliet-Lachotzki, A Jeanine E M van der Ven, Adriana Kater-Kuipers, Danielle R M Timmermans, Erik A Sistermans,[...]. Eur J Hum Genet 2022
Karuna R M van der Meij, Annabel Njio, Linda Martin, Janneke T Gitsels-van der Wal, Mireille N Bekker, Elsbeth H van Vliet-Lachotzki, A Jeanine E M van der Ven, Adriana Kater-Kuipers, Danielle R M Timmermans, Erik A Sistermans,[...]. Eur J Hum Genet 2022
50
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
You-Ri Kang, So-Hyun Lee, Ni-Hsuan Lin, Seung-Jin Lee, Ai-Wen Yang, Gopalakrishnan Chandrasekaran, Kyung Wook Kang, Mi Sun Jin, Myeong-Kyu Kim, Ming-Der Perng,[...]. Eur J Hum Genet 2022
You-Ri Kang, So-Hyun Lee, Ni-Hsuan Lin, Seung-Jin Lee, Ai-Wen Yang, Gopalakrishnan Chandrasekaran, Kyung Wook Kang, Mi Sun Jin, Myeong-Kyu Kim, Ming-Der Perng,[...]. Eur J Hum Genet 2022
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Cross-continental admixture in the Kho population from northwest Pakistan.
Asifullah Khan, Leonardo Vallini, Shahid Aziz, Hizbullah Khan, Komal Zaib, Kiran Nigar, Qasim Ayub, Ling-Xiang Wang, Luca Pagani, Shao-Qing Wen. Eur J Hum Genet 2022
Asifullah Khan, Leonardo Vallini, Shahid Aziz, Hizbullah Khan, Komal Zaib, Kiran Nigar, Qasim Ayub, Ling-Xiang Wang, Luca Pagani, Shao-Qing Wen. Eur J Hum Genet 2022
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A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.
Stephanie Best, Nada Vidic, Kim An, Felicity Collins, Susan M White. Eur J Hum Genet 2022
Stephanie Best, Nada Vidic, Kim An, Felicity Collins, Susan M White. Eur J Hum Genet 2022
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Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.
Yiannis Ioannides, Kemi Lokulo-Sodipe, Deborah J G Mackay, Justin H Davies, I Karen Temple. J Med Genet 2014
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Effects of fecal microbiota transplant on DNA methylation in subjects with metabolic syndrome.
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Eduard W J van der Vossen, Diogo Bastos, Daniela Stols-Gonçalves, Marcus C de Goffau, Mark Davids, Joao P B Pereira, Andrew Y F Li Yim, Peter Henneman, Mihai G Netea, Willem M de Vos,[...]. Gut Microbes 2021
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Oxytocin receptor gene methylation in male and female PTSD patients and trauma-exposed controls.
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
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Transient neonatal diabetes mellitus type 1.
Deborah J G Mackay, I Karen Temple. Am J Med Genet C Semin Med Genet 2010
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"Gap hunting" to characterize clustered probe signals in Illumina methylation array data.
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Shan V Andrews, Christine Ladd-Acosta, Andrew P Feinberg, Kasper D Hansen, M Daniele Fallin. Epigenetics Chromatin 2016
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Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis.
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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias,[...]. Nat Rev Endocrinol 2017
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias,[...]. Nat Rev Endocrinol 2017
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Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
Tsutomu Ogata, Masayo Kagami. J Hum Genet 2016
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Machine learning meets omics: applications and perspectives.
Rufeng Li, Lixin Li, Yungang Xu, Juan Yang. Brief Bioinform 2022
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Epigenome-wide association study in whole blood on type 2 diabetes among sub-Saharan African individuals: findings from the RODAM study.
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Human imprinting disorders: Principles, practice, problems and progress.
Deborah J G Mackay, I Karen Temple. Eur J Med Genet 2017
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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner,[...]. Epigenetics Chromatin 2017
Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner,[...]. Epigenetics Chromatin 2017
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Beckwith-Wiedemann syndrome.
Sanaa Choufani, Cheryl Shuman, Rosanna Weksberg. Am J Med Genet C Semin Med Genet 2010
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Roberto Mendoza-Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu,[...]. Am J Hum Genet 2017
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Roberto Mendoza-Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu,[...]. Am J Hum Genet 2017
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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic. Epigenetics 2017
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic. Epigenetics 2017
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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Saskia M Maas, Fleur Vansenne, Daniel J M Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M Mannens, Johannes H M Merks, Eamonn R Maher, Raoul C Hennekam. Am J Med Genet A 2016
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Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.
Alexander Gheldof, Deborah J G Mackay, Ying Cheong, Willem Verpoest. J Med Genet 2019
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DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.
Jan Maarten Cobben, Izabela M Krzyzewska, Andrea Venema, Adri N Mul, Abeltje Polstra, Alex V Postma, Robert Smigiel, Karolina Pesz, Jacek Niklinski, Monika A Chomczyk,[...]. Epigenomics 2019
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Maternal nutrient supplementation counteracts bisphenol A-induced DNA hypomethylation in early development.
Dana C Dolinoy, Dale Huang, Randy L Jirtle. Proc Natl Acad Sci U S A 2007
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Hungry in the womb: what are the consequences? Lessons from the Dutch famine.
Tessa J Roseboom, Rebecca C Painter, Annet F M van Abeelen, Marjolein V E Veenendaal, Susanne R de Rooij. Maturitas 2011
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Rebecca C Painter, Tessa J Roseboom, Otto P Bleker. Reprod Toxicol 2005
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Bastiaan T Heijmans, Elmar W Tobi, Aryeh D Stein, Hein Putter, Gerard J Blauw, Ezra S Susser, P Eline Slagboom, L H Lumey. Proc Natl Acad Sci U S A 2008
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Transgenerational effects of prenatal exposure to the 1944-45 Dutch famine.
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Finding the missing heritability of complex diseases.
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Frédéric Brioude, Jennifer M Kalish, Alessandro Mussa, Alison C Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E Boonen, Trevor Cole, Robert Baker, Monica Bertoletti,[...]. Nat Rev Endocrinol 2018
Frédéric Brioude, Jennifer M Kalish, Alessandro Mussa, Alison C Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E Boonen, Trevor Cole, Robert Baker, Monica Bertoletti,[...]. Nat Rev Endocrinol 2018
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder,[...]. Genet Med 2022
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder,[...]. Genet Med 2022
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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues,[...]. NPJ Genom Med 2021
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Blood-Based Epigenetic Markers of FKBP5 Gene Methylation in Patients With Dilated Cardiomyopathy.
Kento Wada, Tomofumi Misaka, Tetsuro Yokokawa, Yusuke Kimishima, Takashi Kaneshiro, Masayoshi Oikawa, Akiomi Yoshihisa, Yasuchika Takeishi. J Am Heart Assoc 2021
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J Low, Cristina Dias, Markéta Havlovicová,[...]. Genet Med 2020
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J Low, Cristina Dias, Markéta Havlovicová,[...]. Genet Med 2020
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Using long-read sequencing to detect imprinted DNA methylation.
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Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.