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Department of Human Genetics

Scholars477
Papers165
Citations4
Related Papers (165)
Publication Date
Pathogenic tau in the mouse locus coeruleus produces noradrenergic hyperactivity and neuropsychiatric phenotypes reminiscent of early Alzheimer’s disease
err2026-09-01
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errAnu Korukonda; Harris E. Blankenship; Korey Kam; Dilpreet Kour; Claudia Espinosa-Garcia; Wooyoung Eric Jang; Upasna Srivastava; Bernard Mulvey; Margaret M. Tish; Ronit Witztum; Christina C. Ramelow; Brittany S. Pate; L. Cameron Liles; Linyue Lu; Jake Atallah; Eugene Guo; Keri Martinowich; Amanda L. Sharpe; Andrew W. Varga; Srikant Rangaraju; Michael J. Beckstead; David Weinshenker
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Lipoprotein(a), Carotid Intima–Media Thickness, and Atherosclerotic Cardiovascular Disease
err2026-08-31
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errOAAI
errNicholas Koran; Khalil Anchouche; Line Dufresne; James C. Engert; George Thanassoulis
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Fabry Disease: An Updated Perspective and Review of Treatment and Therapies
err2026-08-22
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errOAAI
errDawn A. Laney; Madelena M. Martin; Ayaka Suzuki; Siddarth V. Shankar; Suma P. Shankar
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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
err2026-08-22
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errDebora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp
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Epigenome-wide profiling identifies distinct DNA methylation architecture underlying ME/CFS and fibromyalgia symptom burden
err2026-08-22
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errAndrea Polli; Jolien Hendrix; Arne Wyns; Jente Van Campenhout; Sabine Allard; Joeri L. Aerts; Thessa Laeremans; Huanyu Xiong; Yanthe Buntinx; Joni Michiels; Jinane Ben Amar; Lode Godderis; Bernard Thienpont; Jo Nijs
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Human iPSC-derived bone marrow organoids with integrated hematopoietic and T cell-supportive niches
err2026-08-19
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errJiyoung Lee; Tomoyuki Kawasaki; Lilika Tabata; Junlong Chen; Toru Uchiyama; Satoshi Yamazaki; Akihiro Umezawa; Hidenori Akutsu
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Using MetaboAnalyst 6.0 for exposomics data analysis—from LC–MS2 spectra processing to dose–response modeling and causal inference
err2026-08-17
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PREAI
errZhiqiang Pang; Yao Lu; Guangyan Zhou; Huiting Ou; Charles Viau; Fumihiko Matsuda; Niladri Basu; Jianguo Xia
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Clinical characteristics and variant spectrum of NF1 in Chinese patients with neurofibromatosis type 1: a cross-sectional study
err2026-08-17
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errYa-Xin Guo; Xin-De Liu; Yi-Qiu Yan; He-Xiao Wang; Xiao-Shi Yang; Yuan Lv; Gang Ma; David Croitoru; Rui-Qun Qi; Yan Wu; Ting Xiao; Long Geng; Vincent Piguet; Hong-Duo Chen; Eric Legius; Xue-Gang Xu; Xing-Hua Gao
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Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder
err2026-08-17
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errMilou G. P. Kennis; Leenke van Haaften; Karen van Hulst; Rolph Pfundt; Nicole de Leeuw; Jeroen van Reeuwijk; Robin Wijngaard; Lisenka E.L.M. Vissers; Han G. Brunner; Simon E. Fisher; Tjitske Kleefstra; Lot Snijders Blok
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Navigating regulatory scenarios for accelerating drug repurposing in rare diseases: a multi-stakeholder perspective on the challenges and opportunities
err2026-08-14
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errEsther A. M. Bührman; Martina C. Cornel; Sofia Oliveira-Martins; Martin de Kort; Wouter P. C. Boon; Tessel Rigter
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The contribution of retrotransposons to canine genome variation
err2026-08-13
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errEmily C. Koch; Matthew S. Blacksmith; Anthony K. Nguyen; Jeffrey M. Kidd
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Socioeconomic position, genetic susceptibility, and epigenetic profiles in obesity across the life course: a systematic review
err2026-08-03
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PREAI
errJ. van Uhm; R. E. H. Meeusen; P. R. Jansen; M. M. van Haelst; E. F. C. van Rossum; E. L. T. van den Akker
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Investigating the Role of Inflammatory Cytokine Genes in Glomerular Disease
err2026-07-31
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PREAI
errRaghul Priyadharson S.; Sangeetha G.; Sudha Ekambaram; Thendral Hepsibha B.; Sneha Grace Mathews; Mohana Priya C. D.
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CMB-Net: A Clinically Modulated Boundary-Aware Network for Anatomical Segmentation of the Cervical Transformation Zone in Colposcopy
err2026-07-29
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PREAI
errLing Yan; Jiali Wu; Yi Guo; Peng Ren; Jingjing Yang; Xingfa Shen; Ying Li; Li Ding; Xudong Ma; Shan Jiang
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Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases
err2026-07-28
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errAleš Maver; Katja Lohmann; Lena-Marie Urbanczyk; Astri Arnesen; Ivo Barić; Peter Bauer; Kailash P. Bhatia; Sylvia Boesch; Fran Borovečki; Norbert Brüggemann; Zih-Hua Fang; Heinz Gabriel; Tobias B. Haack; Henry Houlden; Milena Janković; Erik-Jan Kamsteeg; Michelangelo Mancuso; Deborah Mascalzoni; Maria Judit Molnar; Alexander Münchau; Kornelia Neveling; Ivana Novaković; Borut Peterlin; Ludger Schols; Nika Schuermans; Katie Shiels; Marc Sturm; Rachel Taylor; Marina A. J. Tijssen; Lisenka E. L. M. Vissers; Victoria Williams; Holm Graessner
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Further characterization of the BRSK2-associated neurodevelopmental disorder
err2026-07-27
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errPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
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Profiles of sleep disturbances in Angelman; Prader-Willi; and Rett syndromes: analysis of standardized questionnaires
err2026-07-23
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errLM Lindsay M. Oberman; OJ Olivia J. Veatch; SU Sarika U. Peters; WE Walter E. Kaufmann
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Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
err2026-07-22
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errChristy W. LaFlamme; Chris Clarkson; Kristina Ibañez; Jin-Yuan Wang; Soham Sengupta; Jenny Lord; Virginia Valentine; Emily S. Bonkowski; Edith P. Almanza Fuerte; Athena R. Olszewski; Sourav Ghosh; Bharati Jadhav; Taralynn Mack; Jiadong Lin; Sophia B. Gibson; Johanna M. van Hagen; Mariëlle Alders; Alexandra Martin-Geary; Bida Gu; Mira Kharbanda; Siddharth Banka; Helen M. Stuart; Andrew R. Webster; Akimoto Hosokawa; Harriet Dashnow; Richa Bajpai; Shondra M. Pruett-Miller; Mark J.P. Chaisson; Danny E. Miller; Nicola Whiffin; Evan E. Eichler; Sanjay M. Sisodiya; Henry Houlden; Andrew J. Sharp; Bekim Sadikovic; Marc Valentine; Lynette G. Sadleir; Arianna Tucci; Heather C. Mefford
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Genomic Profile of Interleukin-6 Secreting Ovarian Cancer: Validation of Future Biomarkers and Target of Therapy
err2026-07-22
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errMuhammad Ary Zucha; Vincentius Simeon Weo Budhyanto; Widha Apriani Priadi; Faizah Dwi Tirtasari; Moh Nailul Fahmi; Addin Trirahmanto; Ardhanu Kusumanto; Heru Pradjatmo; Siti Salima; Ali Budi Harsono; Gatot Nyarumenteng Adhipurnawan Winarno; Dodi Suardi; Nadia Yasmine; Agil Wahyu Wicaksono; Laurens David Paulus; Muhammad Yusuf; Andi Kurniadi
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Parental report–based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation
err2026-07-20
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errND Nicole D. Tortora; JE Jessica Ezzell Hunter; AG Anne Glicksman; TM Tiffany McGuire; SR Shira Russell-Giller; AK Amanda Kenepp; ST Shantal Taveras; SS Sonia Seehra; RG Rachel Goldman; VJ Veronica J. Hinton; LS Lisa Shubeck; EG Emily Graves Allen; TA Tatyana Adayev
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