L. Pais

发表

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.

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

N. Brown, Natalie B Tan, D. Phelan, 2020, Molecular genetics & genomic medicine.

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

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

seqr: A web‐based analysis and collaboration tool for rare disease genomics

D. MacArthur, H. Rehm, A. O’Donnell-Luria, 2022, Human mutation.

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.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

A. Noegel, S. Lyonnet, C. Becker, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

N. Brown, B. D. de Vries, W. Chung, 2021, American journal of medical genetics. Part A.

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

A. O’Donnell-Luria, L. Kunkel, P. Kang, 2022, Annals of clinical and translational neurology.

POLRMT mutations impair mitochondrial transcription causing neurological disease

Robert W. Taylor, M. Tarnopolsky, H. Ropers, 2021, Nature Communications.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2020, HGG advances.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

D. MacArthur, N. Brown, A. O’Donnell-Luria, 2021, Journal of Medical Genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

Iftikhar J. Kullo, Gail P. Jarvik, Rongling Li, 2018, Journal of personalized medicine.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

A. Pagnamenta, B. Chung, S. Guter, 2021, Journal of Medical Genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

M. Clark, J. Christodoulou, Z. Stark, 2020, Human mutation.

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

M. Clark, J. Christodoulou, Z. Stark, 2020, medRxiv.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Magalie S Leduc, D. Goldstein, E. van Binsbergen, 2021, Epilepsia.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2021, medRxiv.

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

S. Antonarakis, E. Falconnet, N. Katsanis, 2019, American journal of human genetics.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

F. Del Bene, T. Haaf, R. Maroofian, 2021, American journal of human genetics.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

J. Hoenicka, A. Mammen, Vijay Ganesh, 2022, Neuromuscular Disorders.

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.

A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

Beryl B. Cummings, J. Christodoulou, A. Kornberg, 2023, American journal of medical genetics. Part A.

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

W. Chung, I. Helbig, J. Christodoulou, 2020, American journal of human genetics.

DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE

W. Chung, O. Devinsky, A. Gupta, 2020 .

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

F. Muntoni, Silvio Alessandro Di Gioia, A. O’Donnell-Luria, 2022, Human mutation.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

A. Mallett, S. Alexander, C. Simons, 2020, Development.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism–Based Prenatal Cell-Free DNA Screening

N. Vora, J. Weitzel, L. Pais, 2023, Obstetrics and gynecology.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

P. Lockhart, V. Wickramasinghe, J. Christodoulou, 2021, Human molecular genetics.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

E. Tan, G. Mochida, M. Al-Saffar, 2021, European Journal of Human Genetics.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

U. Shankavaram, A. O’Donnell-Luria, T. Stracker, 2023, medRxiv.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

J. Hoenicka, A. Mammen, Vijay Ganesh, 2023, Acta Neuropathologica.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

N. Brown, B. D. de Vries, W. Chung, 2022, American journal of medical genetics. Part A.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

J. Rosenfeld, J. Lupski, C. Bönnemann, 2023, American journal of human genetics.