List of works - Shalini Jhangiani

Somatic mutations affect key pathways in lung adenocarcinoma

scientific article

The Drosophila melanogaster Genetic Reference Panel

scientific article

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

The genome of the model beetle and pest Tribolium castaneum

scientific article

The genome sequence of taurine cattle: a window to ruminant biology and evolution

scientific article

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

scientific article

The sheep genome illuminates biology of the rumen and lipid metabolism

scientific article

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima

scientific article

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

scientific article published on 27 June 2013

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

scientific article

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

scientific article

Germline mutations in shelterin complex genes are associated with familial glioma

scientific article

Hemichordate genomes and deuterostome origins

scientific article

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

scientific article published on 20 April 2015

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

scientific article

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

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

scientific article

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

scientific article

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

Germ-line and somatic DICER1 mutations in pineoblastoma

scientific article

Novel genetic causes for cerebral visual impairment

scientific article

Secondary findings and carrier test frequencies in a large multiethnic sample

scientific article published on 13 June 2015

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

NR2F1 mutations cause optic atrophy with intellectual disability.

scientific article published on 23 January 2014

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

scientific article

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

scientific article published on 9 May 2016

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

scientific article published on March 3, 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

scientific article published on 5 May 2015

Whole-Exome Sequencing in Familial Parkinson Disease

scientific article published on 23 November 2015

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

scientific article

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

scientific article

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

scientific article published on 31 August 2016

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

scientific article

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

scientific article

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction

scientific article published in August 2017

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

scientific article

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

scientific article

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

scientific article

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

scientific article

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

scientific article published on 16 December 2015

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

scientific article published on 31 October 2017

List of works by Shalini Jhangiani

Somatic mutations affect key pathways in lung adenocarcinoma

The Drosophila melanogaster Genetic Reference Panel

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

The genome of the model beetle and pest Tribolium castaneum

The genome sequence of taurine cattle: a window to ruminant biology and evolution

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The sheep genome illuminates biology of the rumen and lipid metabolism

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Germline mutations in shelterin complex genes are associated with familial glioma

Hemichordate genomes and deuterostome origins

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Lessons learned from additional research analyses of unsolved clinical exome cases

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

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

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

Germ-line and somatic DICER1 mutations in pineoblastoma

Novel genetic causes for cerebral visual impairment

Secondary findings and carrier test frequencies in a large multiethnic sample

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

NR2F1 mutations cause optic atrophy with intellectual disability.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

Whole-Exome Sequencing in Familial Parkinson Disease

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns