M. Kousi

发表

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

M. Kousi, A. Lehesjoki, S. Mole, 2012, Human mutation.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5

Olivier Lichtarge, Emidio Capriotti, Kivilcim Ozturk, 2019, Human mutation.

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

S. El Mestikawy, M. Darmon, A. Jalanko, 2010, Human molecular genetics.

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

R. Carrozzo, N. Katsanis, V. Caputo, 2018, Neurology.

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q

M. Pandolfo, M. Labuda, R. Laaksonen, 2010, Epilepsy Research.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

R. Pfundt, M. Reijnders, B. Franke, 2017, Nature Communications.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

P. Gaffney, N. Katsanis, K. Wierenga, 2014, Proceedings of the National Academy of Sciences.

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Alexander Gusev, Bogdan Pasaniuc, Nicholas Mancuso, 2016, Nature Genetics.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Maria K. Lehtinen, A. Paetau, N. Katsanis, 2017, Brain : a journal of neurology.

DISSECTION OF THE GENETIC BACKGROUND OF CHILDHOOD ONSET PROGRESSIVE MYOCLONIC EPILEPSIES

M. Kousi, 2012 .

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

B. Minassian, M. Kousi, A. Lehesjoki, 2009, Brain : a journal of neurology.

Single-cell mosaicism analysis reveals cell-type-specific somatic mutational burden in Alzheimer’s Dementia

L. Tsai, Hansruedi Mathys, Yongjin P. Park, 2022, bioRxiv.

Genetic modifiers and oligogenic inheritance.

N. Katsanis, M. Kousi, 2015, Cold Spring Harbor perspectives in medicine.

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.

C. Gieger, A. Peters, W. Oertel, 2014, American journal of human genetics.

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

T. Werge, P. Sullivan, R. Gibbs, 2020, Nature Communications.

Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect

Arjan, T. Meitinger, H. Prokisch, 2014 .

Transcriptomics in rare diseases

M. Kousi, 2021, Genomics of Rare Diseases.

The Genetic Basis of Hydrocephalus.

N. Katsanis, M. Kousi, 2016, Annual review of neuroscience.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

A. Palotie, S. Gökben, V. Anttila, 2012, Journal of Medical Genetics.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Manolis Kellis, Irwin Jungreis, S. Sunyaev, 2018, bioRxiv.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Ibrahim Osman Adam, M. Daly, K. Lage, 2013, The New England journal of medicine.

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

X. Estivill, N. Katsanis, J. Clarimón, 2015, Human molecular genetics.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

T. Joensuu, M. Kousi, A. Lehesjoki, 2018, Neuropediatrics.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

M. Daly, B. Neale, N. Katsanis, 2019, Human Genomics.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

M. Daly, B. Neale, N. Katsanis, 2019, Human Genomics.

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

P. Gaffney, N. Katsanis, K. Wierenga, 2014, Proceedings of the National Academy of Sciences.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

A. Paetau, P. Piirilä, S. Kiuru-Enari, 2016, Journal of neuromuscular diseases.

Genetic modifiers and oligogenic inheritance.

N. Katsanis, M. Kousi, 2015, Cold Spring Harbor perspectives in medicine.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

R. Pfundt, N. Katsanis, S. Banka, 2017, American journal of human genetics.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

X. Estivill, N. Katsanis, J. Clarimón, 2015, Human molecular genetics.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q

M. Pandolfo, M. Labuda, R. Laaksonen, 2010, Epilepsy Research.