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Human Genetics

Scholars175
Papers78
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Related Papers (77)
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European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
err2026-06-11
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errFF Fernanda Fortunato; RS Rita Selvatici; JK Jan Kirschner; SS Stefaan Sansen; EA Emanuele Agolini; SO Silvia Ottombrino; EB Enrico Bertini; AN Antonio Novelli; ME Moshe Einhorn; LM Leslie Matalonga; SB Sergi Beltran; IG Ivo G. Gut; AM Alberto M. Pereira; OH Olaf Hiort; FS Franz Schaefer; AV Alain Verloes; AW Ansgar W. Lohse; AA Arthur A. M. Wilde; CB Christine Bodemer; GJ Guillaume Jondeau; HD Hélène Dollfus; HG Holm Graessner; IM Irene M. J. Mathijssen; IL Ikram L'khssim; JB Jean-Yves Blay; LS Luca Sangiorgi; PF Pierre Fenaux; MD María del Mar Mañú Pereira; VG Victoria Gutiérrez Valle; MM Marta Mosca; NH Nicoline Hoogerbrugge; RW Rene Wijnen; TE Teresinha Evangelista; CD Carla D'Angelo; TO Thomas O. F. Wagner; WF Wout F. J. Feitz; RL Ruth Ladenstein; ZD Zoltan Dobai; NW Nico Wulffraat; NR Nicola Ruperto; PJ Paloma Jara Vega; CM Cinzia Maria Bellettato; MS Maurizio Scarpa; MO Michela Onali; ST Sébile Tchaicha; AA Alexis Arzimanoglou; JO Jun Oh; DL Dominic Lenz; BT Birute Tumiene; AZ Aldona Zygmunt; AF Alessandra Ferlini
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ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphology
err2026-06-10
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errCK Csenge Kata Rezi † ‡; CD Canan Doganli †; MG Mariam G. Aslanyan; MC Mohamed Chamlali; BM Benjamin Mary; NL Nina Lykke Callesen; RR Rokeah Rafat Kamel Abu-Khesha; GD Gaurav D. Diwan; RB Robert B. Russell; EL Esben Lorentzen; KB Karsten Boldt; RR Ronald Roepman; LA Lars Allan Larsen; LB Lotte B. Pedersen
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Correction: A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification
err2026-06-10
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errSetareh Moghadasi; Ramin Monajemi; Merel E. Braspenning; Maaike P. G. Vreeswijk; Mar Rodríguez-Girondo
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Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice
err2026-06-06
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errAude Servais; Marie Therese Abi-Wardé; Jean-Baptiste Arnoux; Alberto Burlina; Francois Feillet; Vincenzo Giordano; Nicola Longo; Sufin Yap
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Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation
err2026-05-29
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errAnia C. Muntau; Rongrong Zhang; Anupam Chakrapani; Takashi Hamazaki; Melissa Lah; Danielle J. Ruebel; Suresh Vijay; Roberto T. Zori; Francois Feillet; Nicola Longo; Hope Northrup; Suzanne Hollander; Thomas O’Connell; Jonathan J. Woolley; Ioannis Tomazos
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From bench to bedside: relevant animal models across the migraine attack phases
err2026-05-26
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errGeorgii Krivoshein; Mignon van der Watt; Teresa Jordà-Baleri; Katrin Põld; Viktor Gkotzamanis; Arn M.J.M. van den Maagdenberg; Eloisa Rubio-Beltran; Philip R. Holland
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Exploring experts’ views on “Not Parent Expected” discoveries via direct-to-consumer DNA ancestry testing
err2026-05-25
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errJuliette Careau; Roel Feys; Maarten H.D. Larmuseau; Rebekah Drumsta; Rob Whitley
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Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies
err2026-05-21
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errNicole Nolen; Annemieke Aartsma-Rus; Christine Caneva; Curtis R. Coughlin II; Margot A. Cousin; Catherine Douthwright; Holm Graessner; Olivia Kim-McManus; Ashley Kuniholm; Stefanie Leonard; Andrea Martinsen; Margaret Meserve; Matthis Synofzik; Booma Yandava; Timothy W. Yu; Scott Demarest; Roger J. Paxton
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Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classification
err2026-05-20
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errLV Liselot van der Laan; AL Amanda Luijckx; SL Shirley Lo-A-Njoe; GM Ginette M. Ecury-Goossen; FA Farah A. Falix; SF Sonja Faries; ME Meindert E. Manshande; PA Patricia A. E. A. C. Philippi; EM Evelyn M. van der Plas; HD Hans D. Veenhuis; LR Louise Rafael-Croes; MM Marcel M. A. M. Mannens; BS Bekim Sadikovic; PH Peter Henneman; MA Mariëlle Alders; MM Mieke M. van Haelst
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Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A
err2026-05-13
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errMeret Möller; André Fienemann; Joanne Trinh; Christoph Much; Björn H. Falkenburger; Iñaki Schniewind; Yorck Hellenbroich; Norbert Brüggemann; Christine Klein; Alexander Balck
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Quantification and visualization of 3D facial aging in individuals of European ancestry
err2026-05-12
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errYi Fan; Harold Matthews; Chenda Meng; Nina Claessens; Seth M. Weinberg; Mary L. Marazita; Susan Walsh; Mark D. Shriver; Anthony Penington; Marie A. Cornelis; Paolo M. Cattaneo; Tianmin Xu; Yun Ding; Bing Han; Peter Claes
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AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity
err2026-05-09
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errHannah C. Happ; Thomas A. Sasani; Derek Warner; Deborah W. Neklason; Aaron R. Quinlan
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Ancestry-informative regulatory variants at KCNB1 modulate adipogenesis and body mass index
err2026-05-07
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errSK Samantha Kuwada Teixeira †; CP Caroline Pancera Laurindo †; FT Fábio Takeo Sato †; LF Luiz Fernando Goda Zuleta; NE Nubia E. Duarte; AV Ana Vitória V. Jensen; SL Samantha L. G. Paço; AC Alexandre C. Pereira; NS Noboru Sakabe; MN Marcelo Nobrega; JE Jose Eduardo Krieger
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X chromosome inactivation; X-linked disorders; and cancer
err2026-04-30
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errCS Consuelo Salas-Labadía †; PP Patricia Pérez-Vera; FG Fernando Gómez-Chávez; XP Ximena Pérez Baena; DM Daniel Martínez Anaya; JC Jorge Colín Rubio; MD María del Pilar Navarrete-Meneses †
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Dietary intake and epigenetic aging in an African population: food groups, dietary patterns, and plant-based diets in the RODAM study
err2026-04-28
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errNaomi C.S. Auwerda; Muhau. M. Mungamba; Eva Van der Linden; Erik Beune; Karlijn A.C. Meeks; Peter Henneman; Charles Agyemang; Mary Nicolaou; Ina Danquah; Georges E. Janssens; Gajja S. Salomons; Felix P. Chilunga
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Causal relationship between epigenetic markers and type 2 diabetes in West African populations: a Mendelian randomisation analysis
err2026-04-24
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errKarlijn A. C. Meeks; Eva L. van der Linden; Amy R. Bentley; Ayo P. Doumatey; Peter Henneman; Nora Franceschini; Themistocles L. Assimes; Felix P. Chilunga; Charles F. Hayfron-Benjamin; Ellis Owusu-Dabo; Guanjie Chen; Charles Agyemang; Adebowale A. Adeyemo; Charles N. Rotimi
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Alleviation of heat stress-induced microbial dysbiosis in pigs through dietary supplementation with vitamins and trace elements
err2026-04-21
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errPeter Fauszt; Endre Szilagyi; Maja Mikolas; Emese Szilagyi-Tolnai; Peter David; Ildiko Noemi Kovacs-Forgacs; Brigitta Csernus; Ferenc Gal; Laszlo Stundl; Sandor Biro; Csaba Szabo; Judit Remenyik; Laszlo Babinszky; Melinda Paholcsek
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Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells
err2026-04-18
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errNicole Buhl; Eva-Doreen Pfister; Daniel V. Oliveira; Fabio Turetti; Eberhard Lurz; Ulrich Baumann; Nataliya Di Donato; Thomas Illig; Britta Skawran; Emma R. Andersson; Jan Mašek; Amelie Stalke
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Editorial: Proteostasis disruption in neurodegenerative disorders: mechanisms and treatment strategies
err2026-04-17
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errJJ Jonasz Jeremiasz Weber †; HT Hiroaki Taniguchi †; MS Maxim Sokolov †
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