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Institute of Human Genetics

Scholars281
Papers99
Citations604
Related Papers (97)
Publication Date
The role of satellite DNAs in repeatome organization and sex chromosome evolution in the owl monkey Aotus infulatus and congeneric species
err2026-08-27
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errGustavo Akira Toma; Edivaldo Herculano Corrêa de Oliveira; Klebson Demelas Maurício; Liliane Almeida Carneiro; Thomas Liehr; Marcelo de Bello Cioffi
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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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Monoallelic and Biallelic FOXP4 Variants Cause Short Stature, Dysmorphic Features, Neurodevelopmental, Heart, and Congenital Abnormalities
err2026-08-13
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errEssa Alharby; Malak Ali Alghamdi; Abeer A. Alsofyani; Eissa A. Faqeih; Mohammed Saleh; Chaya N. Murali; Rachel Franciskovich; Jerica Lenberg; Jennifer Friedman; Robin-Tobias Jauss; Rami Abou Jamra; Sophie Rondeau; Sandrine Marlin; Daniel G. Calame; Arthur Sorlin; Jean-Paul Hermand; Mohammed Abdullah Alotaibi; Nada A. Almarghalani; Adriane Cardoso-Demartini; Laurana de Polli Cellin; Nathalia Lisboa Gomes; James R. Lupski; Amel Bouchatal; Julien Van Gils; Benjamin Dauriat; Khaled K. Abu-Amero; Alexander Augusto de Lima Jorge; Almohanad A. Alkayyal; Ahmad Bakur Mahmoud; Naif A. M. Almontashiri
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Physiological re-replication during human stem cell differentiation
err2026-07-29
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errMarie Minet; Amila Beganovic; Shusruto Rishik; Elisa Michaeli; Daniela Yildiz; Georges P. Schmartz; Paula E. Schwarz; Melina Schäfer; Tanja Tänzer; Magali Cucchiarini; Nicole Ludwig; Andreas Keller; Eckart Meese; Ulrike Fischer
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PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery
err2026-07-29
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errParia Najarzadeh Torbati; Lukas Hallbrucker; Michaela A. H. Hofrichter; Daniel Owrang; Jonas Setzke; Manfred W. Kilimann; Anahid Hemmatpour; Mohsen Rajati; Ehsan Ghayoor Karimiani; Thomas Haaf; Christian Vogl; Barbara Vona
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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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Systematic profiling of AGO2-associated circRNAs and functional investigation reveal circN4BP2L2 as a survival-promoting regulator in T-ALL
errLeukemia
IF13.4
err2026-07-27
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errMonika Drobna-Sledzinska; Alessia Buratin; Eleonora Roncaglia; Alberto Caregari; Ilias Glogovitis; Maria Kosmalska; Xing Zhao; Silvia Bresolin; Enrico Gaffo; Anke Van den Berg; Joost Kluiver; Malgorzata Dawidowska; Stefania Bortoluzzi
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The association between the MCM6 LCT-13910C>T variant and bone mineral density in patients with inflammatory bowel disease
err2026-07-25
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errAP Agata Picher; AE Alicja Ewa Ratajczak-Pawłowska; MS Marzena Skrzypczak-Zielińska; AD Agnieszka Dobrowolska; IK Iwona Krela-Kaźmierczak
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Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome
err2026-07-20
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errHaley McConkey; Liselot van der Laan; Sourav Ghosh; Lotte Kleinendorst; Michael A. Levy; Jessica Rzasa; Johanna M. van Hagen; Quinten Waisfisz; Heidi L. Schulz; Corina Heller; Kerstin Huhn; Carolin D. Obermaier; Konrad Platzer; Rami Abou Jamra; Nikos Marinakis; Danai Veltra; Konstantina Kosma; Christalena Sofocleous; Peter Henneman; Bekim Sadikovic; Mieke M. van Haelst
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CD20 expression dynamics in adult B-cell acute lymphoblastic leukemia and impact on anti-CD20 treatment
err2026-07-20
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errMonika Szczepanowski; Johanna Richter; Sonja Bendig; Lorenz Bastian; Miriam Kelm; Veronika Beck; Thomas Beder; Guranda Chitadze; Michaela Kotrová; Johannes Duell; Christoph Faul; Johannes Gärtner; Alina Hartmann; Britta Kehden; Eva Maria Murga Penas; Martin Neumann; Matthias Ritgen; Wiebke Schrader; Björn Steffen; Heiko Trautmann; Andreas Viardot; Thomas Burmeister; Claudia D. Baldus; Stefan Schwartz; Nicola Gökbuget; Monika Brüggemann
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Correction: A rare missense variant impacting NEK1 kinase function is associated with ALS
err2026-07-20
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errDavid Brenner; Anna Ponomarenko; Iris Petrut; Sofia Beyrle; Matilde Contardo; Isabel Loss; Constantin Radke; Jonas Frank; Eleni Zimmer; Matthias Schlesner; Pascal Achenbach; Wendy Scheveneels; Amr Aly; Hülya Nazlican; Jasper Hesebeck-Brinkmann; Patrick Oeckl; Kathrin Müller; Reiner Siebert; Tobias Böckers; Kristel van Eijk; Jan Veldink; Alexander Kleger; Medhanie Mulaw; Peter M. Andersen; Karin Forsberg; Jochen H. Weishaupt; Seyed Babak Loghmani; Thorsten Grehl; Philip van Damme; Joachim Weis; Alberto Catanese
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Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland
err2026-07-18
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errGunda Schwaninger; Kathrin Taxer; Wera Hofmann; Christophe Cordier; Camila Gabriel; Johanna Tecklenburg; Johannes Zschocke; Simone Heidemann
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DNA methylation signatures distinguish extranodal NK/T-cell lymphoma and EBV-positive nodal T/NK-cell lymphoma and identify prognostic subgroups
errLeukemia
IF13.4
err2026-07-15
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errThe Phyu; Sai Mun Leong; Shangying Chen; Wenjun Gu; Anja Fischer; Qiao-Yang Sun; Henry Yang; Nicholas L. Syn; Lichang Deng; Louis Ching Yi Low; Shih-Sung Chuang; Seiichi Kato; Joseph D. Khoury; Young-Hyeh Ko; Kenneth Hon Kim Ban; Limei Poon; Leticia Quintanilla-Martinez; Reiner Siebert; Ling-Wen Ding; Siok-Bian Ng
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PRC1 nanoglobules organize Hox chromatin during Drosophila embryogenesis
err2026-07-07
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errThierry Cheutin; Nazli Akilli; Marco Di Stefano; Paul-Swann Puel; Lauriane Fritsch; Daniel Jost; Giacomo Cavalli
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A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling
err2026-07-04
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errGabriele Loers; Selen Cangüzel; Sebastian Rading; Christian Kubisch; Meliha Karsak
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Genomic loss of MLH1/PMS2 loci defines a mismatch repair deficient subgroup in monomorphic epitheliotropic intestinal T-cell lymphoma
err2026-07-03
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errLuis Veloza; Anja Fischer; Vimel Rattina; David Vallois; Rita Sarkis; Karine Lefort; Bettina Bisig; Doriane Cavalieri; Olivier Tournilhac; Philippe Gaulard; Reiner Siebert; Laurence de Leval; Edoardo Missiaglia
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Longitudinal kinetics of human epididymis protein 4 in recurrent advanced ovarian carcinoma treated with platinum-based chemotherapy: mathematical modeling and prognostic implications
err2026-07-03
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errPetra Nardelli; Katharina Leitner; Aurore Carrot; Julia Irsara; Julia Jaritz; Julia Schult; Paul Triendl; Simon Schnaiter; Pauline Corbaux; Gilles Freyer; Christian Marth; Heidelinde Fiegl; Benoit You; Olivier Colomban
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De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
err2026-07-01
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errYi Liang; Rodrigo Ormazabal-Toledo; Harini Srinivasan; Ayse Malci; Waldo Acevedo; Ulrich Thomas; Julie S. Cohen; Nils Rahner; Johannes Luppe; Gabriella Vera; Francois Lecoquierre; Eden Kroin; Brad Angle; Hong Cui; Maria J. Guillen Sacoto; Bert B. A. de Vries; Rolph Pfundt; Gillian Prinzing; Kimberly Wiltrout; Yakira Begun; Elaine M. Pereira; Alexandra Afenjar; Caroline Nava; Konrad Platzer; Dirk Montag; Rodrigo Herrera-Molina
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Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures
err2026-06-13
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errAsuman Koparir; Jennifer Kerkhof; Jessica Rzasa; Eva Metzger; Paulina Bahena Carbajal; Konstantinos Kolokotronis; Erkan Koparir; Yvonne Jelting; Michaela A. H. Hofrichter; Jörg Klepper; Thomas König; Eva Runkel; Wahyu Eka Prastyo; Jonas Deinlein; Neda Dragicevic Babic; Juliane Spiegler; Nicole Stachelscheid; Erdmute Kunstmann; Thomas Haaf; Bekim Sadikovic; Eva Klopocki
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In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis
err2026-06-12
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errJulika E. Friedrich; Julia Hentschel; Sandy Richter; Henriette Kiep; Maria Arélin; Konrad Platzer; Torsten Schulz; Andreas Merkenschlager; Wieland Kiess; Steffi Mayer; Rami Abou Jamra; Diana Le Duc; Antje Garten; Anna S. Kirstein
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