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

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.4197-4202

2014

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

PLoS genetics, 2017-07, Vol.13 (7), p.e1006905

2017

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Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

The Journal of molecular diagnostics : JMD, 2016-05, Vol.18 (3), p.446-453

2016

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A neonate with mucolipidosis II and transient secondary hyperparathyroidism

Journal of Pediatric Endocrinology and Metabolism, 2019-12, Vol.32 (12), p.1399-1402

2019

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Galactose toxicity in animals

IUBMB life, 2009-11, Vol.61 (11), p.1063-1074

2009

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Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1799-n/a

2021

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Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

The Journal of pediatrics, 2009-12, Vol.155 (6), p.888-892.e1

2009

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Dominant collagen XII mutations cause a distal myopathy

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.1980-1988

2019

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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1966-n/a

2022

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Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2935-2940

2012

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Reply to: “The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult‐Onset Leukoencephalopathy with Spheroids and Pigmented Glia”

Movement disorders, 2022-07, Vol.37 (7), p.1572-1573

2022

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Neuropathological Findings of CSF1R‐Related Leukoencephalopathy After Long‐Term Immunosuppressive Therapy

Movement disorders, 2022-02, Vol.37 (2), p.439-440

2022

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Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

American journal of human genetics, 2019-12, Vol.105 (6), p.1237-1253

2019

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βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

American journal of human genetics, 2018-06, Vol.102 (6), p.1158-1168

2018

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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 )

Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877

2022

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Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study

The Lancet (British edition), 2001-03, Vol.357 (9257), p.680-683

2001

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The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Human mutation, 2020-08, Vol.41 (8), p.1425-1434

2020

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A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?

Parkinsonism & related disorders, 2022-12, Vol.105, p.149-153

2022

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Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Science translational medicine, 2020-10, Vol.12 (566)

2020

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Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

Genetics in medicine, 2018-04, Vol.20 (4), p.470-473

2018

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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.747-759

2019

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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.252-259

2015

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

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

A neonate with mucolipidosis II and transient secondary hyperparathyroidism

Galactose toxicity in animals

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Dominant collagen XII mutations cause a distal myopathy

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome

Reply to: “The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult‐Onset Leukoencephalopathy with Spheroids and Pigmented Glia”

Neuropathological Findings of CSF1R‐Related Leukoencephalopathy After Long‐Term Immunosuppressive Therapy

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 )

Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

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

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

A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

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