A. Jackson

发表

Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome

P. Kind, D. Sherman, P. Brophy, 2020, Cell reports.

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

D. Grozeva, P. Kind, H. R. Crollius, 2020, bioRxiv.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS

M. Bear, P. Kind, E. Wood, 2015, Human molecular genetics.

Convergence of Hippocampal Pathophysiology in Syngap+/− and Fmr1−/y Mice

M. Bear, P. Kind, U. Nägerl, 2015, The Journal of Neuroscience.

Monogenic disorders as mimics of juvenile idiopathic arthritis

S. Eyre, S. Banka, T. Briggs, 2022, Pediatric Rheumatology Online Journal.

Explorer Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a rat model of Fragile X Syndrome

M. Bear, P. Kind, E. Wood, 2018 .

Convergence of Hippocampal Pathophysiology in Syngap[superscript +/-] and Fmr1[superscript -/y] Mice

M. Bear, P. Kind, S. Grant, 2015 .

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

P. Grant, N. Brunetti‐Pierri, D. Calame, 2022, American journal of human genetics.

Altered dendritic spine function and integration in a mouse model of fragile X syndrome

J. Isaac, P. Kind, G. Hardingham, 2018, Nature Communications.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Philippe M Campeau, Tiziana Granata, Ronnie Wright, 2016, American journal of human genetics.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Imbalance of flight–freeze responses and their cellular correlates in the Nlgn3−/y rat model of autism

P. Kind, E. Wood, S. Chattarji, 2020, bioRxiv.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

D. Grozeva, P. Kind, J. Prendergast, 2021, PloS one.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

B. V. van Bon, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Prescott, N. C. Yeo, S. Nelson, 2020, medRxiv.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

A. Pagnamenta, J. Lupski, T. Nägele, 2021, American journal of human genetics.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

A. Pagnamenta, Jenny C. Taylor, K. Abbott, 2021, Clinical genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome

M. Bear, P. Kind, E. Wood, 2019, Science Translational Medicine.

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

J. Goodship, H. Gill, M. Splitt, 2000, American journal of human genetics.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

Kennedy's disease: Unusual molecular pathologic and clinical features

K. Bushby, J. Slade, P. Ince, 1998, Neurology.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

S. Banka, J. Mellerio, K. Chandler, 2022, The British journal of dermatology.

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

J. Clayton-Smith, S. Lovell, H. Stewart, 2021, American journal of medical genetics. Part A.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.

S. Bhattacharya, R. Richardson, A. Curtis, 1993, Journal of medical genetics.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Explorer Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a rat model of Fragile X Syndrome

M. Bear, P. Kind, E. Wood, 2015 .

Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome

M. Bear, P. Kind, E. Wood, 2019, Science Translational Medicine.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

A. Nordgren, B. Kerr, S. Banka, 2016, American journal of human genetics.