Valentina Stanley

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Somatic mosaicism reveals clonal distributions of neocortical development

Martin W. Breuss, C. Glass, D. Antaki, 2022, Nature.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Martin W. Breuss, A. Pagnamenta, P. Bauer, 2020, European Journal of Human Genetics.

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Renee D. George, J. Gleeson, Jennifer McEvoy-Venneri, 2020, BMC Medical Genomics.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Colin A. Johnson, Martin W. Breuss, P. Gaffney, 2020, Neuron.

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Sara B. Linker, Renee D. George, Dillon Y. Chen, 2020, Proceedings of the National Academy of Sciences.

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

J. Rosenfeld, E. Puffenberger, F. Xia, 2020, Brain : a journal of neurology.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

C. Cereda, T. Mazza, E. Valente, 2019, Brain : a journal of neurology.

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

Martin W. Breuss, C. Glass, Yan Ding, 2020, bioRxiv.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

A. Need, A. Pagnamenta, J. Wren, 2021, Genetics in Medicine.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Dillon Y. Chen, J. Gleeson, H. Houlden, 2020, Nature Communications.

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Michael M. Segal, Kiely N. James, Renee D. George, 2020, Orphanet Journal of Rare Diseases.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

T. Marshall, F. Mancia, A. Bertoli-Avella, 2021, The New England journal of medicine.

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

J. Gleeson, Jennifer McEvoy-Venneri, T. Ben-Omran, 2020, Journal of Medical Genetics.

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

Martin W. Breuss, J. Gleeson, Jennifer McEvoy-Venneri, 2022, eLife.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

J. Rosenfeld, B. Graham, Y. Kwon, 2020, American journal of human genetics.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

F. Baas, J. Gleeson, T. Ben-Omran, 2017, American journal of human genetics.

Developmental and temporal characteristics of clonal sperm mosaicism

Kiely N. James, Martin W. Breuss, Laurel L. Ball, 2021, Cell.

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

Xin Xu, An Nguyen, Xiaoxu Yang, 2020 .

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Martin W. Breuss, J. Gleeson, H. Topaloglu, 2021, European Journal of Human Genetics.

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Martin W. Breuss, B. Traynor, J. Gleeson, 2019, Journal of Medical Genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Kiely N. James, Martin W. Breuss, Renee D. George, 2018, American journal of human genetics.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

P. Striano, M. Fornerod, N. Brunetti‐Pierri, 2019, American journal of human genetics.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

F. Imam, J. Gleeson, G. Novarino, 2017, Journal of Medical Genetics.

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, I. Miller, 2018, Nature Genetics.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Sara B. Linker, Ryan E. Mills, Kiely N. James, 2023, Nature Genetics.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

J. Gleeson, K. Kutsche, M. Hempel, 2021, Brain : a journal of neurology.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Kiely N. James, Dillon Y. Chen, G. Mancini, 2019, American journal of human genetics.

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

F. Alkuraya, J. Gleeson, F. Al-Mohanna, 2019, American journal of human genetics.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Mohit M. Jain, R. Maroofian, J. Gleeson, 2020, Genetics in Medicine.

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

C. Bönnemann, T. Lehky, H. Lochmüller, 2020, American journal of medical genetics. Part A.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Kiely N. James, Martin W. Breuss, Laurel L. Ball, 2022, bioRxiv.

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

D. Rader, G. Rubboli, R. Møller, 2020, Brain : a journal of neurology.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

M. Tarnopolsky, K. Boycott, K. Kernohan, 2021, American journal of human genetics.

Sperm mosaicism predicts transmission of de novo mutations to human blastocysts

J. Gleeson, Xiaoxu Yang, Jennifer McEvoy-Venneri, 2022, bioRxiv.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

S. Gabriel, H. Per, N. Shomron, 2018, Annals of neurology.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Tommaso Mazza, Jessica Rosati, William B Dobyns, 2017, American journal of human genetics.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Kiely N. James, P. Bauer, A. Caglayan, 2018, Journal of Medical Genetics.

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Hongda Li, J. Gleeson, Zhiheng Xu, 2019, Neuron.

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Kiely N. James, Laurel L. Ball, Renee D. George, 2020, Epilepsia open.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Evidence of maternal vascular malperfusion in placentas of women with congenital heart disease.

A. Rodriguez-Soto, R. Rakow-Penner, Morgan Meads, 2021, Placenta.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

E. Bertini, L. Di Marcotullio, T. Mazza, 2017, American journal of human genetics.

Risk of meningomyelocele mediated by the common 22q11.2 deletion

R. Stevenson, H. Meltzer, K. Aldinger, 2024, Science.