L. Bicknell

发表

Cerebral organoids model human brain development and microcephaly

Madeline A. Lancaster, M. Hurles, M. Lancaster, 2013, Nature.

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

S. O’Rahilly, M. O’Driscoll, J. Nolan, 2011, Diabetes.

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

Wieczorek, Dagmar, Rosanna, 2011 .

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

L. Bicknell, D. Lefeber, Fokje S M Zijlstra, 2020, Journal of Human Genetics.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

E. Bongers, C. Wise, J. Murray, 2012, American journal of medical genetics. Part A.

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

L. Bicknell, K. Gibson, Shan Carter, 2022, European Journal of Human Genetics.

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

S. Robertson, S. Aftimos, L. Bicknell, 2008, European Journal of Human Genetics.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Penny A Jeggo, Claudia Kerzendorfer, P. Jeggo, 2011, Nature Genetics.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

Mutations in FLNB cause boomerang dysplasia

S. Robertson, M. Bialer, D. Krakow, 2005, Journal of Medical Genetics.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Martin A. M. Reijns, M. Nöthen, N. Hübner, 2015, The Journal of clinical investigation.

SET Nuclear Oncogene Associates with Microcephalin/MCPH1 and Regulates Chromosome Condensation*

C. Shaw-Smith, Junjie Chen, L. Bicknell, 2011, The Journal of Biological Chemistry.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Martin A. M. Reijns, D. Sillence, J. Marsh, 2019, Human mutation.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

S. Robertson, D. Baralle, R. Heller, 2020, European Journal of Human Genetics.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Ahmed E. Fetit, A. Wood, C. Wise, 2016, Genes & development.

Expanding the phenotypic spectrum associated with DPF2: A new case report

L. Bicknell, G. Poke, D. Jenkins, 2019, American journal of medical genetics. Part A.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Histones: coming of age in Mendelian genetic disorders

L. Bicknell, G. van Haaften, K. Knapp, 2023, Journal of Medical Genetics.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Martin A. M. Reijns, M. Hurles, M. Maghnie, 2015, Nature Genetics.

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

A. Dalal, L. Bicknell, S. Aggarwal, 2021, European journal of medical genetics.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

E. Bongers, N. Pachter, J. Denecke, 2021, European Journal of Human Genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Alison M. Meynert, Martin S. Taylor, Andrew P. Jackson, 2013, BMC Bioinformatics.

Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke

C. Sudlow, H. Markus, C. Logan, 2017, Wellcome open research.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

C. Ferreira, A. Gezdirici, P. Arn, 2019, Journal of Medical Genetics.

Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2016, Journal of Medical Genetics.

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome

L. Bicknell, Emily Nielsen-Dandoroff, Mischa S G Ruegg, 2023, European Journal of Human Genetics.

Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants

I. Temple, J. Murray, L. Bicknell, 2020, American journal of medical genetics. Part A.

Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6

S. Robertson, D. Baralle, R. Heller, 2020 .

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

A. B. Krøigård, L. Ousager, K. Brusgaard, 2016, Clinical dysmorphology.

Genomic discrimination in New Zealand health and life insurance. AGenDA: Against Genomic Discrimination in Aotearoa.

A. Shelling, R. Snell, A. Sporle, 2022, The New Zealand medical journal.

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

A. Pagnamenta, D. Keays, S. Knight, 2012, American journal of medical genetics. Part A.

Edinburgh Research Explorer A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A. Pagnamenta, S. Knight, Jenny C. Taylor, 2012 .

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

M. Hurles, G. Stewart, L. Bicknell, 2018, Human mutation.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2018, PLoS Genetics.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Edinburgh Research Explorer Quantifying Single Nucleotide Variant Detection Sensitivity in Exome Sequencing Quantifying Single Nucleotide Variant Detection Sensitivity in Exome Sequencing Quantifying Single Nucleotide Variant Detection Sensitivity in Exome Sequencing

Martin S. Taylor, M. Hurles, L. Bicknell, 2022 .

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical Genetics.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

L. Bicknell, A. Krepischi, G. Tolezano, 2023, American journal of medical genetics. Part A.