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CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

BMC medical genomics, 2021-07, Vol.14 (1), p.186-6, Article 186

2021

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Deficiency of Growth Differentiation Factor 3 Protects against Diet-Induced Obesity by Selectively Acting on White Adipose

Molecular endocrinology (Baltimore, Md.), 2009-01, Vol.23 (1), p.113-123

2009

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Activin Signaling: Effects on Body Composition and Mitochondrial Energy Metabolism

Endocrinology (Philadelphia), 2009-08, Vol.150 (8), p.3521-3529

2009

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Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism

Pediatrics in review, 2024-04, Vol.45 (4), p.234-238

2024

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A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy

Journal of pediatric gastroenterology and nutrition, 2020-12, Vol.71 (6), p.726-730

2020

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BRAT1-related disease-identification of a patient without early lethality

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.699-702

2016

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The role of clinical response to treatment in determining pathogenicity of genomic variants

Genetics in medicine, 2021-03, Vol.23 (3), p.581-585

2021

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.663-671

2015

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63445-n/a

2024

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Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes

Clinical dysmorphology, 2015-04, Vol.24 (2), p.55-60

Shen, Joseph J

2015

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Response to Biesecker et al

Genetics in medicine, 2021-04, Vol.23 (4), p.793-794

2021

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Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca—One Center’s Experience with Two Immigrant Farmworker Families in the Central Valley of California

Journal of genetic counseling, 2018-08, Vol.27 (4), p.996-1004

2018

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Lysosomal acid lipase deficiency with no demonstrable abnormalities on in vitro enzymatic assay − First described case confirmed after 27 months of sebelipase alfa therapy

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S131-S131

Shen, Joseph J.

2018

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Genetics in medicine, 2005-09, Vol.7 (7), p.479-483

2005

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Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review

Journal of Perinatology, 2005-06, Vol.25 (6), p.429-432

2005

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

American journal of human genetics, 2024-07, Vol.111 (7), p.1330-1351

2024

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Low factor XII level in an individual with Sotos syndrome

Pediatric blood & cancer, 2005-02, Vol.44 (2), p.187-189

2005

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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

American journal of medical genetics. Part A, 2003-04, Vol.118A (2), p.384-389

2003

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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy‐Walker malformation

American journal of medical genetics, 2002-11, Vol.112 (4), p.384-389

2002

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Reducing energy requirement in latex concentration by ultrafiltration

Industrial & engineering chemistry product research and development, 1982-03, Vol.21 (1), p.63-68

1982

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On the Prediction of Limiting Flux in Laminar Ultrafiltration of Macromolecular Solutions

Industrial & engineering chemistry fundamentals, 1977-11, Vol.16 (4), p.459-465

1977

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Turbulence Promotion and Hydrodynamic Optimization in an Ultrafiltration Process

Industrial & engineering chemistry process design and development, 1979-07, Vol.18 (3), p.547-554

1979

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Velocity Profile Survey in a 16-in. Custody-Transfer Orifice Meter for Natural Gas

SPE production engineering, 1991-02, Vol.6 (1), p.40-44

Shen, Joseph J. S.

1991

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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

American Journal of Medical Genetics, 2002, Vol.112 (4), p.384-389

2002

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CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

Deficiency of Growth Differentiation Factor 3 Protects against Diet-Induced Obesity by Selectively Acting on White Adipose

Activin Signaling: Effects on Body Composition and Mitochondrial Energy Metabolism

Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism

A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy

BRAT1-related disease-identification of a patient without early lethality

The role of clinical response to treatment in determining pathogenicity of genomic variants

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants

Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes

Response to Biesecker et al

Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca—One Center’s Experience with Two Immigrant Farmworker Families in the Central Valley of California

Lysosomal acid lipase deficiency with no demonstrable abnormalities on in vitro enzymatic assay − First described case confirmed after 27 months of sebelipase alfa therapy

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

Low factor XII level in an individual with Sotos syndrome

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy‐Walker malformation

Reducing energy requirement in latex concentration by ultrafiltration

On the Prediction of Limiting Flux in Laminar Ultrafiltration of Macromolecular Solutions

Turbulence Promotion and Hydrodynamic Optimization in an Ultrafiltration Process

Velocity Profile Survey in a 16-in. Custody-Transfer Orifice Meter for Natural Gas

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

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