Mark Hamilton

Queen Elizabeth University Hospital

H指数:15

被引数:706

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity

新发EHMT2基因变异通过丧失G9a甲基转移酶活性导致常染色体显性遗传的EHMT2相关Kleefstra综合征

Nature Communications

IF15.7

2026-07-010

OAAI

Aleš Hnízda; Beatriz Martinez-Delgado; Diana Sanchez-Ponce; Javier Alonso; Jeanne Amiel; Tania Attie-Bitach; Ariadna Bada-Navarro; Beatriz Baladron; Eva Bermejo-Sanchez; Vítězslav Brinsa; Ivana Buková; Rosario Cazorla-Calleja; Sylvie Červenková; Shanshan Chow; Petr Dušek; Olha Fedosieieva; Marta Fernandez-Prieto; Sourav Ghosh; Gema Gomez-Mariano; Andrea Gřegořová; Mark James Hamilton; Hana Hartmannová; Esther Hernandez-SanMiguel; Marina Herrero-Matesanz; Kateřina Hodaňová; Alan Kádek; Jennifer Kerkhof; Tjitske Kleefstra; Didier Lacombe; Michael A. Levy; Estrella Lopez-Martin; Ruaud Lyse; Petr Man; Purificacion Marin-Reina; Ellen F. Macnamara; Haley McConkey; Petra Melenovská; Lidia M. Mielu; David Moore; Lenka Steiner Mrázová; Karolína Musilová; Kristýna Neffeová; Petr Nickl; David Pajuelo Reguera; Martina Pavlíková; Lea Pavlovičová; Manuel Posada; Jan Procházka; Kateryna Pysanenko; Sheila Ramos del Saz; Dmitrijs Rots; Jessica Rzasa; Radislav Sedláček; Viktor Stránecký; František Špoutil; Matthew L. Tedder; Louise Thompson; Cynthia J. Tifft; Frederic Tran Mau-Them; Helena Trešlová; Antonio Vitobello; Sarah Hilton; Christopher Campbell; Siddharth Banka; Daniel Jirák; Bekim Sadikovic; Jakub Sikora; Stanislav Kmoch; Maria J. Barrero; Lenka Nosková

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications

IF15.7

2025-11-260

Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene

不完整的先天性静止性夜盲症，与CACNA1F基因中的一个新型变异相关

Documenta Ophthalmologica

IF2.9

2025-11-070

PRE

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations

新型双等位基因NUP107变异影响核孔复合体，并扩展了临床谱以包括脑畸形。

JOURNAL OF MEDICAL GENETICS

IF3.7

2025-05-110

PRE

Predicting Syndromic Status Based on Longitudinal Data from Parental Reports of the Presence of Additional Structural and Functional Anomalies in Children Born with an Orofacial Cleft

JOURNAL OF CLINICAL MEDICINE

IF2.9

2024-11-170

OAAI

The phenotypic spectrum of MBTPS2 mutations: two illustrative cases

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2024-06-280

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

BRAIN

IF11.7

2024-01-135

OAAI

Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L.; Liang, Robin A.; Abdel-Hamid, Mohamed S.; Sultan, Tipu; Baroy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S.; Zaki, Maha S.; Severino, Mariasavina; Duru, Kingsley C.; Tryon, Robert C.; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M.; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Eric; Nichols, Colin G.; Smeland, Marie F.; Mcclenaghan, Conor

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

由CTNNB1变体引起的神经发育障碍的404个个体的基因组和表型特征

GENETICS IN MEDICINE

IF6.2

2022-11-0122

Kayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

NEUROLOGY-GENETICS

IF3.7

2020-10-0517

OAAI

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2019-09-0323

OAAI

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight

FRONTIERS IN NEUROLOGY