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DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

Parkinsonism & related disorders, 2013-03, Vol.19 (3), p.320-324

2013

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Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity

Obesity (Silver Spring, Md.), 2022-02, Vol.30 (2), p.546-552

2022

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Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

Journal of medical genetics, 2013-08, Vol.50 (8), p.515-520

2013

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Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians

Obesity (Silver Spring, Md.), 2021-04, Vol.29 (4), p.748-754

2021

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Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians

European journal of human genetics : EJHG, 2022-10, Vol.30 (10), p.1159-1166

2022

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Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences

Human immunology, 2021-06, Vol.82 (6), p.385-403

2021

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Novel recessive cone-rod dystrophy caused by POC1B mutation

JAMA ophthalmology, 2014-10, Vol.132 (10), p.1185

2014

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A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians

Diabetes/metabolism research and reviews, 2022-03, Vol.38 (3), p.e3504-n/a

2022

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De Novo Genome Assemblies From Two Indigenous Americans from Arizona Identify New Polymorphisms in Non-Reference Sequences

Genome biology and evolution, 2024-09, Vol.16 (9)

2024

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Assessing established BMI variants for a role in nighttime eating behavior in robustly phenotyped Southwestern American Indians

European journal of clinical nutrition, 2020-12, Vol.74 (12), p.1718-1724

2020

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1977-P: Whole-Exome Sequencing Followed by Functional Analysis to Identify Variants That May Influence Body Mass Index (BMI) via a Role in Adipogenesis

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1)

2020

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271-OR: Whole-Exome Sequence Identifies Potentially Functional Rare Variants in Bardet-Biedl Syndrome (BBS) Genes that Associate with Obesity in American Indians

Diabetes (New York, N.Y.), 2019-06, Vol.68 (Supplement_1)

2019

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2116-P: A Pipeline to Explore Rare Variation Which Can Contribute to Extreme Obesity in American Indians

Diabetes (New York, N.Y.), 2019-06, Vol.68 (Supplement_1)

2019

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Identification and functional validation of rare coding variants in genes linked to monogenic obesity

Obesity (Silver Spring, Md.), 2024-09, Vol.32 (9), p.1769-1777

2024

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Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

European journal of human genetics : EJHG, 2017-02, Vol.25 (3), p.315-323

2017

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A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.333-337

2014

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Association of protein function-altering variants with cardiometabolic traits: the strong heart study

Scientific reports, 2022-06, Vol.12 (1), p.9317-9317, Article 9317

2022

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Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US

American journal of human genetics, 2020-08, Vol.107 (2), p.251-264

2020

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Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians

The journal of clinical endocrinology and metabolism, 2020-11, Vol.105 (11), p.1-e4000

2020

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Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

Neurogenetics, 2009-10, Vol.10 (4), p.325-331

2009

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GNE missense mutation in recessive familial amyotrophic lateral sclerosis

Neurogenetics, 2017-12, Vol.18 (4), p.237-243

2017

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A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy

Modern rheumatology, 2015-03, Vol.25 (2), p.315-321

2015

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A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Parkinsonism & related disorders, 2012-02, Vol.18 (2), p.191-193

2012

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Body Weights and Mass and Links with Nighttime Eating

Eating Disorders, 2023, p.1191-1205

2023

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Bazı Organik Maddelerin Çilek Bitkisinin Gelişimine ve Macrophomina phaseolina (Tassi) Goid.’ nın Neden Olduğu Taç ve Kök Çürüklüğü Hastalığı ile Toprakta Mikrosklerot Sayısı Üzerine Etkisi

Tekirdağ Ziraat Fakültesi dergisi, 2024-05, Vol.21 (3), p.732-747

2024

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DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians

Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians

Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences

Novel recessive cone-rod dystrophy caused by POC1B mutation

A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians

De Novo Genome Assemblies From Two Indigenous Americans from Arizona Identify New Polymorphisms in Non-Reference Sequences

Assessing established BMI variants for a role in nighttime eating behavior in robustly phenotyped Southwestern American Indians

1977-P: Whole-Exome Sequencing Followed by Functional Analysis to Identify Variants That May Influence Body Mass Index (BMI) via a Role in Adipogenesis

271-OR: Whole-Exome Sequence Identifies Potentially Functional Rare Variants in Bardet-Biedl Syndrome (BBS) Genes that Associate with Obesity in American Indians

2116-P: A Pipeline to Explore Rare Variation Which Can Contribute to Extreme Obesity in American Indians

Identification and functional validation of rare coding variants in genes linked to monogenic obesity

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family

Association of protein function-altering variants with cardiometabolic traits: the strong heart study

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US

Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

GNE missense mutation in recessive familial amyotrophic lateral sclerosis

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Body Weights and Mass and Links with Nighttime Eating

Bazı Organik Maddelerin Çilek Bitkisinin Gelişimine ve Macrophomina phaseolina (Tassi) Goid.’ nın Neden Olduğu Taç ve Kök Çürüklüğü Hastalığı ile Toprakta Mikrosklerot Sayısı Üzerine Etkisi

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