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K. Prescott · SciRah

Researcher profile · Semantic Scholar

K. Prescott

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K. Prescott — researcher profile on SciRah

h-index: 23
Works: 52
Citations: 3,415

Most-cited papers

Large-scale discovery of novel genetic causes of developmental disorders
T. Fitzgerald, SS Gerety, WD Jones, M. van Kogelenberg +261 more
2014Nature1,070 citations Open access
Semantic Scholar
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
I. Slade, C. Bacchelli, H. Davies, Anne Murray +28 more
2011Journal of Medical Genetics344 citations Open access
Semantic Scholar
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud +38 more
2010Human Mutation238 citations Open access
Semantic Scholar
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari, G. Poke, Quentin R. V. Ferry, K. Williamson +71 more
2014Journal of Medical Genetics165 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
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
Victoria Randall, K. McCue, C. Roberts, V. Kyriakopoulou +13 more
2009Journal of Clinical Investigation141 citations Open access
Semantic Scholar
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
I. Audo, K. Bujakowska, Elise Orhan, C. Poloschek +48 more
2012American Journal of Human Genetics131 citations Open access
Semantic Scholar
Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome
T. Ogi, Sarah A. Walker, T. Stiff, E. Hobson +14 more
2012PLoS Genetics112 citations Open access
Semantic Scholar
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Dennis Mircsof, Maéva Langouët, M. Rio, S. Moutton +25 more
2015Nature Neuroscience94 citations Open access
Semantic Scholar
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
J. Meester, L. Southgate, Anna-Barbara Stittrich, H. Venselaar +20 more
2015American Journal of Human Genetics92 citations Open access
Semantic Scholar
Arterial tortuosity syndrome: 40 new families and literature review
A. Beyens, J. Albuisson, A. Boel, Mazen Al-Essa +60 more
2018Genetics in Medicine85 citations Open access
Semantic Scholar
PORCN mutations in focal dermal hypoplasia: coping with lethality
D. Bornholdt, F. Oeffner, A. König, R. Happle +30 more
2009Human Mutation82 citations Open access
Semantic Scholar
COMPREHENSIVE CLINICAL AND MOLECULAR ANALYSIS OF 12 FAMILIES WITH TYPE 1 RECESSIVE CUTIS LAXA
B. Callewaert, Chi-Ting Su, T. Van Damme, P. Vlummens +24 more
2012Human Mutation80 citations Open access
Semantic Scholar
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
G. Gestri, Robert J. Osborne, A. Wyatt, D. Gerrelli +11 more
2009Human Genetics78 citations Open access
Semantic Scholar
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Enrico D H Konrad, Niels Nardini, A. Caliebe, I. Nagel +59 more
2019Genetics in Medicine55 citations Open access
Semantic Scholar
Contribution of retrotransposition to developmental disorders
E. Gardner, E. Prigmore, G. Gallone, P. Danecek +15 more
2018Nature Communications53 citations Open access
Semantic Scholar
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis +297 more
2016bioRxiv50 citations Open access
Semantic Scholar
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
L. Lenaerts, S. Reynhout, Iris Verbinnen, F. Laumonnier +48 more
2020Genetics in Medicine47 citations Open access
Semantic Scholar
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
David A. Parry, T. D. Holmes, N. Gamper, Walid El-Sayed +11 more
2016Journal of Allergy and Clinical Immunology37 citations Open access
Semantic Scholar
Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome
K. Prescott, S. Ivins, M. Hubank, E. Lindsay +2 more
2005Human Genetics34 citations
Semantic Scholar
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
C. Zeitz, C. Michiels, M. Neuillé, C. Friedburg +53 more
2019Human Mutation31 citations Open access
Semantic Scholar
A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome
K. Prescott, K. Woodfine, P. Stubbs, M. Super +4 more
2004Human Genetics26 citations
Semantic Scholar
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Manir Ali, P. Hocking, M. Mckibbin, S. Finnegan +14 more
2011Investigative Ophthalmology and Visual Science25 citations
Semantic Scholar
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
I. B. Larsen, Lorenzo Povolo, Lu-Ping Zhou, Wei-Hua Tian +16 more
2023Proceedings of the National Academy of Sciences of the United States of America23 citations Open access
Semantic Scholar
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Shen-Zhao Lu, Mengqi Ma, Xiao Mao, C. Bacino +16 more
2022American Journal of Human Genetics20 citations Open access
Semantic Scholar
Genetic aspects of birth defects: new understandings of old problems
K. Prescott, A. Wilkie
2007Archives of Disease in Childhood: Fetal and Neonatal Edition20 citations Open access
Semantic Scholar
Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Schaida Schirwani, N. Hauser, A. Platt, S. Punj +5 more
2020European Journal of Medical Genetics16 citations
Semantic Scholar
The face of Ulnar Mammary syndrome?
S. Joss, U. Kini, R. Fisher, S. Mundlos +3 more
2011European Journal of Medical Genetics16 citations
Semantic Scholar
Valuation of Lost Productivity in Caregivers: A Validation Study
Aaron Gelfand, Julie Sou, R. Sawatzky, K. Prescott +4 more
2021Frontiers in Psychology14 citations Open access
Semantic Scholar
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.
I. Shaheen, E. Finlay, K. Prescott, M. Russell +2 more
2010Clinical Dysmorphology14 citations
Semantic Scholar
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, V. Jain, Andreas Benneche, K. Metcalfe +10 more
2021European Journal of Human Genetics13 citations Open access
Semantic Scholar
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
M. Sy, J. Chauhan, K. Prescott, A. Imam +49 more
2022American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease
L. Green, Ian R. Berry, A. Childs, H. McCullagh +8 more
2017Neuropediatrics11 citations Open access
Semantic Scholar
Working From Home During the COVID-19 Pandemic
Wei Zhang, Hui-Ying Sun, Aaron Gelfand, R. Sawatzky +4 more
2022Journal of Occupational and Environmental Medicine9 citations Open access
Semantic Scholar
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Katherine A. Wood, J. Ellingford, Huw B. Thomas, S. Douzgou +5 more
2021Clinical Genetics9 citations Open access
Semantic Scholar
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
H. Copeland, K. Low, Sarah L. Wynn, Ayesha Ahmed +88 more
2024Genetics in medicine open8 citations Open access
Semantic Scholar
Cystic fibrosis and Russell‐Silver syndrome in a child with maternal isodisomy of chromosome 7
S. Sonnappa, K. Prescott, B. Adler, R. Dinwiddie +1 more
2005Pediatric Pulmonology6 citations
Semantic Scholar
PORCN mutations in focal dermal hypoplasia: coping with lethality
D. Bornholdt, F. Oeffner, A. König, R. Happle +30 more
20094 citations
Semantic Scholar
Velo-Cardio-Facial Syndrome: Molecular genetics of velo-cardio-facial syndrome
K. Prescott, P. Scambler
20054 citations
Semantic Scholar
Correction: Arterial tortuosity syndrome: 40 new families and literature review
A. Beyens, J. Albuisson, A. Boel, Mazen Al-Essa +60 more
2018Genetics in Medicine2 citations Open access
Semantic Scholar
Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm
K. McCue, Victoria Randall, C. Roberts, V. Kyriakopoulou +8 more
20091 citations Open access
Semantic Scholar
2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Y. Crow, D. Mariella, Alessandro, T. Dabir +224 more
20190 citations
Semantic Scholar
Les mutations du gène NONO sont responsables d ’ un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses
Dennis Mircsof, Maéva Langouët, M. Rio, Sébastien Moutton +25 more
20180 citations
Semantic Scholar
Heterozygous Loss-of-Function Mutations in DLL 4 Cause Adams-Oliver Syndrome Report
J. Meester, L. Southgate, Anna-Barbara Stittrich, H. Venselaar +22 more
20180 citations
Semantic Scholar
Arterial tortuosity syndrome : 29 novel families
A. Beyens, J. Albuisson, T. Busa, N. Canham +38 more
20160 citations
Semantic Scholar
Familial hypocalcaemia – think about calcium sensor receptor (CASR)
D. Finn, S. H. Yaw, V. Mathew, K. Prescott +1 more
2012Archives of Disease in Childhood0 citations
Semantic Scholar
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness (vol 90, pg 321, 2012)
I. Audo, K. Bujakowska, Elise Orhan, C. Poloschek +48 more
20120 citations
Semantic Scholar
Null Mutation in the Chicken Mpdz/mupp1 Gene Causes Retinal Dysplasia and Degeneration: A New Candidate Gene for Human Retinitis Pigmentosa
Manir Ali, P. Hocking, S. Finnegan, M. Mckibbin +6 more
20100 citations
Semantic Scholar
Findings in LRP2 mutation positive versus LRP2 mutation negative cases referred for DBS
B. Pober, K. Noonan, L. Al-Gazali, E. Bieth +22 more
20080 citations
Semantic Scholar
An analysis of the molecular basis of the 22q11 deletion syndrome.
K. Prescott
20060 citations
Semantic Scholar

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