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Overcoming barriers to equitable genomic healthcare

European journal of human genetics : EJHG, 2024-02

Girisha, Katta M

2024

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Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.1022-1026

2024

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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American journal of human genetics, 2016-11, Vol.99 (5), p.1206-1216

2016

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Three M syndrome 2 in two Indian patients

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.614-616

2021

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Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.243-246

2024

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Nosology of genetic skeletal disorders: 2023 revision

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1164-1209

2023

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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American journal of human genetics, 2016-12, Vol.99 (6), p.1406-1408

2016

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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Human mutation, 2019-03, Vol.40 (3), p.299-309

2019

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

American journal of human genetics, 2020-07, Vol.107 (1), p.34-45

2020

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Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX

Matrix biology, 2023-01, Vol.115, p.81-106

2023

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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

JAMA neurology, 2016-07, Vol.73 (7), p.836

2016

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Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.857-861

2019

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Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Gene, 2020-03, Vol.729, p.144229-144229, Article 144229

2020

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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Journal of human genetics, 2017-07, Vol.62 (7), p.723-727

2017

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Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63601-n/a

2024

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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Journal of human genetics, 2023-04, Vol.68 (4), p.287-290

2023

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Nature communications, 2024-02, Vol.15 (1), p.1640-1640, Article 1640

2024

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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Journal of medical genetics, 2022-10, Vol.59 (10), p.957-964

2022

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Meckel syndrome: Clinical and mutation profile in six fetuses

Clinical genetics, 2019-12, Vol.96 (6), p.560-565

2019

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Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

Biochimica et biophysica acta. Molecular basis of disease, 2023-08, Vol.1869 (6), p.166741-166741, Article 166741

2023

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The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging

Aging cell, 2022-11, Vol.21 (11), p.e13688-n/a

2022

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Exome Sequencing in Monogenic Forms of Rickets

Indian journal of pediatrics, 2023-12, Vol.90 (12), p.1182-1190

2023

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C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures

Human genetics, 2022-08, Vol.141 (8), p.1423-1429

2022

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A novel sequence variant in SFRP4 causing Pyle disease

Journal of human genetics, 2017-01, Vol.62 (5), p.575-576

2017

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Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

Journal of human genetics, 2019-01, Vol.64 (1), p.17-21

2019

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Overcoming barriers to equitable genomic healthcare

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Three M syndrome 2 in two Indian patients

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy

Nosology of genetic skeletal disorders: 2023 revision

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Meckel syndrome: Clinical and mutation profile in six fetuses

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging

Exome Sequencing in Monogenic Forms of Rickets

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures

A novel sequence variant in SFRP4 causing Pyle disease

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

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