Mahim Jain, MD

Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta – Genotypic and phenotypic determinants; Orthodontics and Craniofacial Research; (2024).

Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data; Molecular Genetics and Metabolism Reports; (2024).

Hereditary Connective Tissue Diseases and Risk of Post-Acute SARS-CoV-2; Viruses; (2024).

Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study; Journal of Clinical Psychology in Medical Settings; (2024).

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect; Journal of Clinical Investigation; (2024).

A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta; American Journal of Medical Genetics, Part A; (2023).

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder; American Journal of Human Genetics; (2023).

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature; Cold Spring Harbor Molecular Case Studies; (2023).

Caudamins, a new subclass of protein hormones; Trends in Endocrinology and Metabolism; (2021).

Facial morphology analysis in osteogenesis imperfecta types I, III and IV using computer vision; Orthodontics and Craniofacial Research; (2021).

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study; Bone; (2021).

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing; Journal of Clinical Investigation; (2021).

Bone Microvasculature: Stimulus for Tissue Function and Regeneration; Tissue Engineering - Part B: Reviews; (2021).

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss; American Journal of Human Genetics; (2021).

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay; American Journal of Human Genetics; (2021).

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts; American Journal of Medical Genetics, Part C: Seminars in Medical Genetics; (2020).

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (Genetics in Medicine, (2020), 22, 2, (389-397), 10.1038/s41436-019-0612-0); Genetics in Medicine; (2020).

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS); JBMR Plus; (2020).

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay; bioRxiv; (2020).

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; American Journal of Human Genetics; (2020).

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y; Neuron; (2020).

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome; European Journal of Human Genetics; (2020).

Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta: A cross-sectional study; Journal of the American Dental Association; (2020).

Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption; Experimental Neurology; (2020).

CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash),Syndrome CDAGS (craniosténose, surdité, anomalie anale et génito-urinaire avec éruption cutanée); Annales de Dermatologie et de Venereologie; (2020).

The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?; American Journal of Medical Genetics, Part A; (2020).

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis; Genetics in Medicine; (2020).

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta; Genetics in Medicine; (2020).

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay; American Journal of Human Genetics; (2019).

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation; bioRxiv; (2019).

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals; Human Mutation; (2019).

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study; Genetics in Medicine; (2019).

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum; Genetics in Medicine; (2019).

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V; European Journal of Medical Genetics; (2019).

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia; Molecular Genetics and Genomic Medicine; (2019).

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders; Nature Communications; (2019).

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data; Scientific Reports; (2019).

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes; American Journal of Human Genetics; (2019).

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study; Orphanet Journal of Rare Diseases; (2019).

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative; Genetics in Medicine; (2019).

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms; Molecular Genetics and Genomic Medicine; (2019).

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement; bioRxiv; (2018).

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma; Neurology: Genetics; (2018).

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants; Genetics in Medicine; (2018).

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder; American Journal of Human Genetics; (2018).

IRF2BPL Is Associated with Neurological Phenotypes; American Journal of Human Genetics; (2018).

Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases; Genetics in Medicine; (2018).

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum; bioRxiv; (2018).

Oral Health-Related Quality of Life in Children and Adolescents with Osteogenesis Imperfecta: Cross-sectional study; bioRxiv; (2018).

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: Cross-sectional study; Orphanet Journal of Rare Diseases; (2018).

Osteogenesis imperfecta: Potential therapeutic approaches; PeerJ; (2018).

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation; American Journal of Human Genetics; (2018).

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI; JBMR Plus; (2018).

Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006)); American Journal of Human Genetics; (2018).

Characteristics of undiagnosed diseases network applicants: Implications for referring providers; BMC Health Services Research; (2018).

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure; Journal of the American Society of Nephrology; (2018).

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome; American Journal of Human Genetics; (2018).

Asprosin is a centrally acting orexigenic hormone; Nature Medicine; (2017).

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy; American Journal of Medical Genetics, Part A; (2017).

Model organisms facilitate rare disease diagnosis and therapeutic research; Genetics; (2017).

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome; American Journal of Human Genetics; (2017).

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability; Human Mutation; (2017).

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3; American Journal of Human Genetics; (2017).

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies; Clinica Chimica Acta; (2017).

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies; American Journal of Medical Genetics, Part A; (2017).

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies; American Journal of Human Genetics; (2016).

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes; American Journal of Medical Genetics, Part A; (2016).

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta; Genetics in Medicine; (2016).

Asprosin, a Fasting-Induced Glucogenic Protein Hormone; Cell; (2016).

A recurrent p.Arg92Trp variant in steroidogenic factor- 1 (NR5A1) can act as a molecular switch in human sex development; Human Molecular Genetics; (2016).

Corrigendum: A recurrent p. Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development [Human Molecular Genetics, 25, 23, (2016) (5286-5286)] DOI: 10.1093/hmg/ddw186; Human Molecular Genetics; (2016).

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death; Molecular Genetics and Genomic Medicine; (2016).

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype; American Journal of Human Genetics; (2016).

Catel-Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS; Molecular Genetics and Metabolism Reports; (2015).

Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3; American Journal of Human Genetics; (2015).

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders; Molecular Genetics and Metabolism; (2014).

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome; American Journal of Human Genetics; (2014).

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia; Molecular Genetics and Metabolism Reports; (2014).

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis; American Journal of Physiology - Gastrointestinal and Liver Physiology; (2014).

Novel Loci Associated with Increased Risk of Sudden Cardiac Death in the Context of Coronary Artery Disease; PLoS ONE; (2013).

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption; Gene; (2013).

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD; Molecular Psychiatry; (2012).

Seven newly identified loci for autoimmune thyroid disease; Human Molecular Genetics; (2012).

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis; American Journal of Human Genetics; (2011).

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication; Molecular Psychiatry; (2010).

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls; Nature; (2010).

A novel six3 mutation segregates with holoprosencephaly in a large family; American Journal of Medical Genetics, Part A; (2009).

Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.; Attention deficit and hyperactivity disorders; (2009).

Additional EFNB1 mutations in craniofrontonasal syndrome; American Journal of Medical Genetics, Part A; (2008).

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?; American Journal of Medical Genetics, Part A; (2008).

Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci; Biological Psychiatry; (2007).

Severe lower limb defects in exstrophy of the cloaca; American Journal of Medical Genetics; (2004).

Chloride Transport Across Vesicle and Cell Membranes by Steroid-Based Receptors; Angewandte Chemie - International Edition; (2003).

Cationic triple-chain amphiphiles facilitate vesicle fusion compared to double-chain or single-chain analogues; Biochimica et Biophysica Acta - Biomembranes; (2002).