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A. Brooks · SciRah

Researcher profile · Semantic Scholar

A. Brooks

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A. Brooks — researcher profile on SciRah

h-index: 37
Works: 113
Citations: 3,997

Most-cited papers

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C. Stoetzel, V. Laurier, E. Davis, J. Muller +31 more
2006Nature Genetics312 citations Open access
Semantic Scholar
ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease
K. Kyrklund, C. Sloots, I. de Blaauw, K. Bjørnland +16 more
2020Orphanet Journal of Rare Diseases175 citations Open access
Semantic Scholar
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
A. Brooks, A. Bertoli-Avella, G. Burzynski, G. Breedveld +13 more
2005American Journal of Human Genetics160 citations Open access
Semantic Scholar
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
D. Koolen, R. Pfundt, K. Linda, G. Beunders +45 more
2015European Journal of Human Genetics143 citations Open access
Semantic Scholar
SYNGAP1 encephalopathy
D. R. Vlaskamp, B. J. Shaw, R. Burgess, D. Mei +24 more
2018Neurology132 citations Open access
Semantic Scholar
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
Danny Halim, Michael P. Wilson, Daniel Oliver, E. Brosens +21 more
2017Proceedings of the National Academy of Sciences of the United States of America121 citations Open access
Semantic Scholar
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder
A. Brooks, B. Oostra, R. Hofstra
2004Clinical Genetics117 citations
Semantic Scholar
Human mutations in integrator complex subunits link transcriptome integrity to brain development
R. Oegema, David Baillat, R. Schot, L. V. van Unen +17 more
2017PLoS Genetics109 citations Open access
Semantic Scholar
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
J. Bliek, M. Alders, S. Maas, R. Oostra +8 more
2009European Journal of Human Genetics106 citations Open access
Semantic Scholar
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
M. Reijnders, V. Zachariadis, Brooke L. Latour, L. Jolly +33 more
2016American Journal of Human Genetics104 citations Open access
Semantic Scholar
Phenotypes and genotypes in individuals with SMC1A variants
S. Huisman, P. Mulder, E. Redeker, I. Bader +44 more
2017American Journal of Medical Genetics. Part A95 citations Open access
Semantic Scholar
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
K. Machol, J. Rousseau, Sophie Ehresmann, T. Garcia +201 more
2019American Journal of Human Genetics86 citations Open access
Semantic Scholar
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
H. Gui, D. Schriemer, W. W. Cheng, R. Chauhan +36 more
2017Genome Biology82 citations Open access
Semantic Scholar
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
K. Bindels-de Heus, S. Mous, Maartje ten Hooven-Radstaake, Bianca M. van Iperen-Kolk +7 more
2019American Journal of Medical Genetics. Part A81 citations Open access
Semantic Scholar
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
F. Radio, Kaifang Pang, A. Ciolfi, M. Levy +110 more
2021American Journal of Human Genetics80 citations Open access
Semantic Scholar
Identifying candidate Hirschsprung disease-associated RET variants.
G. Burzynski, I. Nolte, Agnes Bronda, Krista K. Bos +8 more
2005American Journal of Human Genetics67 citations Open access
Semantic Scholar
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Danny Halim, R. Hofstra, L. Signorile, Rob M. Verdijk +16 more
2016Human Molecular Genetics66 citations
Semantic Scholar
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler, A. Nikoncuk, S. Yousefi, W. Berdowski +65 more
2019bioRxiv65 citations Open access
Semantic Scholar
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
M. Salih, I. Gautschi, M. V. van Bemmelen, Michael Di Benedetto +4 more
2017Journal of the American Society of Nephrology65 citations Open access
Semantic Scholar
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
G. Burzynski, I. Nolte, J. Osinga, I. Ceccherini +7 more
2004European Journal of Human Genetics59 citations
Semantic Scholar
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, P. Deriziotis, M. Steehouwer, C. Gilissen +42 more
2017PLoS Genetics57 citations Open access
Semantic Scholar
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
C. Michot, C. le Goff, Clémentine Mahaut, A. Afenjar +29 more
2014European Journal of Human Genetics56 citations Open access
Semantic Scholar
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
M. Nellist, R. Schot, M. Hoogeveen-Westerveld, R. Neuteboom +7 more
2015Molecular Genetics and Metabolism49 citations
Semantic Scholar
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
Karl P. Schlingmann, A. Renigunta, E. Hoorn, A. Forst +27 more
2021Journal of the American Society of Nephrology48 citations Open access
Semantic Scholar
Genetics of enteric neuropathies.
E. Brosens, A. Burns, A. Brooks, I. Matera +8 more
2016Developmental Biology46 citations Open access
Semantic Scholar
KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation
M. Alves, G. Burzynski, Jean-Marie Delalande, J. Osinga +9 more
2010Human Molecular Genetics44 citations Open access
Semantic Scholar
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, T. S. Barakat, B. Michel, N. Mashtalir +49 more
2020American Journal of Human Genetics43 citations Open access
Semantic Scholar
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
K. Diderich, Kathleen Romijn, M. Joosten, L. Govaerts +15 more
2020Acta Obstetricia et Gynecologica Scandinavica42 citations Open access
Semantic Scholar
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
M. Krall, S. Htun, R. Schnur, A. Brooks +8 more
2019European Journal of Human Genetics42 citations Open access
Semantic Scholar
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
A. Paulussen, C. Schrander-Stumpel, D. Tserpelis, Matteus K M Spee +23 more
2010European Journal of Human Genetics40 citations Open access
Semantic Scholar
AGORA, a data- and biobank for birth defects and childhood cancer.
I. V. van Rooij, L. V. D. van der Zanden, E. Bongers, K. Renkema +34 more
2016Birth defects research. Clinical and molecular teratology39 citations Open access
Semantic Scholar
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
Geeske M. van Woerden, Melanie Bos, C. de Konink, B. Distel +43 more
2021Human Mutation38 citations Open access
Semantic Scholar
Novel no‐stop FLNA mutation causes multi‐organ involvement in males
R. Oegema, J. Hulst, Sabine D. M. Theuns-Valks, L. V. van Unen +10 more
2013American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds
M. Wentink, M. Nellist, M. Hoogeveen-Westerveld, Bernard A. Zonnenberg +11 more
2012Clinical Genetics37 citations
Semantic Scholar
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
L. Claus, Chuan Chen, Jennifer L. Stallworth, Joshu Turner +43 more
2023Kidney International36 citations Open access
Semantic Scholar
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
C. S. van der Werf, Y. Sribudiani, J. Verheij, M. Carroll +6 more
2012Genetics in Medicine36 citations Open access
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
E. Brosens, Florian Marsch, Elisabeth M. de Jong, Hitisha P. Zaveri +23 more
2016European Journal of Human Genetics34 citations Open access
Semantic Scholar
A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3
A. Brooks, P. Leegwater, G. Burzynski, P. Willems +6 more
2005Journal of Medical Genetics34 citations Open access
Semantic Scholar
Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Thuy-Linh Le, L. Galmiche, J. Lévy, P. Suwannarat +33 more
2021Journal of Clinical Investigation32 citations Open access
Semantic Scholar
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
M. Balasubramanian, A. Dingemans, S. Albaba, R. Richardson +35 more
2021European Journal of Human Genetics30 citations Open access
Semantic Scholar
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
R. van de Putte, G. Dworschak, E. Brosens, H. Reutter +23 more
2020Frontiers in Pediatrics27 citations Open access
Semantic Scholar
Clinical aspects of a large group of adults with Angelman syndrome
Inge den Besten, Rianne de Jong, Amber Geerts-Haages, H. Bruggenwirth +5 more
2020American Journal of Medical Genetics. Part A25 citations Open access
Semantic Scholar
Early diagnosis of Wolf–Hirschhorn syndrome triggered by a life‐threatening event: Congenital diaphragmatic hernia
M. V. van Dooren, A. Brooks, A. Hoogeboom, T. L. van den Hoonaard +3 more
2004American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder
Fabian M. P. Kaiser, Sarah Gruenbacher, M. R. Oyaga, Enzo Nio +23 more
2022Journal of Experimental Medicine21 citations Open access
Semantic Scholar
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
L. Kuil, K. MacKenzie, C. Tang, J. Windster +18 more
2021PLoS Genetics21 citations Open access
Semantic Scholar
University of Groningen Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
L. Petrova, E. Brosens, Colin Harrison, Tara D. Wabbersen +13 more
201821 citations
Semantic Scholar
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
X. Stalpers, A. Verrips, B. Poll-The, J. Cobben +10 more
2013Neuromuscular Disorders21 citations
Semantic Scholar
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
A. C. Deden, van Slegtenhorst, G. Ruijter, G. C. Schoonderwoerd +4 more
2011Clinica chimica acta; international journal of clinical chemistry18 citations
Semantic Scholar
Structural and numerical changes of chromosome X in patients with esophageal atresia
E. Brosens, Elisabeth M. de Jong, T. S. Barakat, B. Eussen +9 more
2014European Journal of Human Genetics16 citations Open access
Semantic Scholar

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