Publications by authors named "Alice Brooks"

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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.
Daphne J Smits, Christophe Debuy, Alice S Brooks, Rachel Schot, Federico Ferraro

Eur J Hum Genet· October 2025

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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.
Daphne J Smits, Federico Ferraro, Mark Drost, Herma C van der Linde, Bianca M de Graaf, Alice S Brooks

Eur J Hum Genet· October 2025

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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Alice S Brooks

Genet Med· June 2024

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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karim Karimi, Merel O Mol, Sadegheh Haghshenas, Raissa Relator, Michael A Levy, Alice Brooks

Genet Med· March 2024

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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Avinaash V Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D Joustra, Barbara Triggs-Raine, Alice S Brooks

JCI Insight· February 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Alice S Brooks

J Clin Invest· January 2024

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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela G Slaats, Alice S Brooks

Kidney Int· November 2023

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The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Almira Zada, Yuying Zhao, Danny Halim, Jonathan Windster, Herma C van der Linde, Alice S Brooks

Hum Mol Genet· January 2023

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Correction: Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Fabian M P Kaiser, Sarah Gruenbacher, Maria Roa Oyaga, Enzo Nio, Markus Jaritz, Alice Brooks

J Exp Med· January 2023

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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Geeske M van Woerden, Richelle Senden, Charlotte de Konink, Rossella A Trezza, Anwar Baban, Alice S Brooks

Hum Mutat· October 2022

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Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Fabian M P Kaiser, Sarah Gruenbacher, Maria Roa Oyaga, Enzo Nio, Markus Jaritz, Alice Brooks

J Exp Med· September 2022

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Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.
Almira Zada, Laura E Kuil, Bianca M de Graaf, Naomi Kakiailatu, Jonathan D Windster, Alice S Brooks

Front Cell Dev Biol· July 2022

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Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Grazia M S Mancini, Daphne J Smits, Jordy Dekker, Rachel Schot, Marie Claire Y de Wit, Alice S Brooks

Eur J Paediatr Neurol· November 2021

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The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Katherine C MacKenzie, Rhiana Garritsen, Rajendra K Chauhan, Yunia Sribudiani, Bianca M de Graaf, Alice S Brooks

Int J Mol Sci· November 2021

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Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.
Erwin Brosens, Rutger W W Brouwer, Hannie Douben, Yolande van Bever, Alice S Brooks

Genes (Basel)· October 2021

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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Alice S Brooks

PLoS Genet· August 2021

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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Karin E M Diderich, Kathleen Romijn, Marieke Joosten, Lutgarde C P Govaerts, Marike Polak, Alice S Brooks

Acta Obstet Gynecol Scand· June 2021

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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Karl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, Anna-Lena Forst, Vijay Renigunta, Alice S Brooks

J Am Soc Nephrol· June 2021

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Meena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, Ruth Richardson, Thabo M Yates, Alice S Brooks

Eur J Hum Genet· April 2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Alice Brooks

Hum Mutat· April 2021

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Thuy-Linh Le, Louise Galmiche, Jonathan Levy, Pim Suwannarat, Debby Mei Hellebrekers, Alice Brooks

J Clin Invest· March 2021

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Alice S Brooks

Am J Hum Genet· March 2021

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Clinical aspects of a large group of adults with Angelman syndrome.
Inge den Besten, Rianne F de Jong, Amber Geerts-Haages, Hennie T Bruggenwirth, Marije Koopmans, Alice Brooks

Am J Med Genet A· January 2021

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, Nazar Mashtalir, Jennifer B Phillips, Alice S Brooks

Am J Hum Genet· December 2020

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Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, Yuying Zhao, Erwin Brosens, Alice S Brooks

Hum Mutat· November 2020

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