List of works - Joseph Shen

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

scientific article published on 16 May 2019

Activin signaling: effects on body composition and mitochondrial energy metabolism

scientific article published on 23 April 2009

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

scientific article published on 6 November 2015

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

scientific article published on 22 October 2015

Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome

scientific article published on 01 June 1998

Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21

scientific article published on 01 September 1997

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

scientific article

Cytogenetic and molecular studies of Down syndrome individuals with leukemia.

scientific article published on April 1995

Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adipose.

scientific article

Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 ⬇️

scientific article published on June 20, 2011

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

scientific article

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

scientific article published on 14 November 2013

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

Low factor XII level in an individual with Sotos syndrome

scientific article published on 01 February 2005

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

scientific article published in January 2010

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

scientific article published on 01 April 2003

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

scientific article published on 01 September 2005

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

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

scientific article

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

scientific article published on 23 January 2014

Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II

scientific article published on 01 December 1996

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

scientific article published on 22 October 2020

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

scientific article

List of works by Joseph Shen

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Activin signaling: effects on body composition and mitochondrial energy metabolism

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

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

Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome

Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

Cytogenetic and molecular studies of Down syndrome individuals with leukemia.

Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adipose.

Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 ⬇️

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

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Low factor XII level in an individual with Sotos syndrome

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

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

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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II

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

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