A. Srivastava

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The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.

D. Schlessinger, J. Kere, M. Ko, 1997, Proceedings of the National Academy of Sciences of the United States of America.

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

D. Schlessinger, A. Chapelle, J. Kere, 1996, Nature Genetics.

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

C. Schwartz, A. Srivastava, A. Srivastava, 2014, Neuroscience & Biobehavioral Reviews.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

AT2 Receptor-Interacting Proteins ATIPs in the Brain

A. Srivastava, F. Margottin-Goguet, E. le Rouzic, 2013, International journal of hypertension.

AGTR2 Mutations in X-Linked Mental Retardation

R. Stevenson, C. Schwartz, B. Dupont, 2002, Science.

Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles.

D. Schlessinger, A. Srivastava, M. Durmowicz, 2003, Human molecular genetics.

The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

Howard Y. Chang, Bradley P. Coe, Ryan A. Flynn, 2018, bioRxiv.

EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice.

D. Schlessinger, M. Ko, T. Tezuka, 2002, Human molecular genetics.

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

W. Dobyns, E. Andermann, R. Guerrini, 1998, Human molecular genetics.

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

I. Scheffer, D. Ledbetter, C. Walsh, 1997, Human molecular genetics.

Structural assessment of the effects of Amino Acid Substitutions on protein stability and protein-protein interaction

Emil Alexov, Anand K. Srivastava, Liangjiang Wang, 2010, Int. J. Comput. Biol. Drug Des..

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

Anand K. Srivastava, Hideki Hidaka, Michael Dean, 2001, Nature Genetics.

A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.

S. Bhattacharya, S. Bhattacharya, A. Srivastava, 2006, Molecular vision.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

A. Pandya, A. Brooks-Wilson, H. Brewer, 2001, American journal of human genetics.

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

Hyung-Goo Kim, A. Srivastava, S. Sowell, 2015, PloS one.

Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.

J. Lilien, A. Srivastava, G. Guzauskas, 2008, American journal of human genetics.

tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.

A. Srivastava, G. Guzauskas, Kennedy C Ukadike, 2007, Genomics.

Microarray data integration for genome-wide analysis of human tissue-selective gene expression

Liangjiang Wang, Liangjiang Wang, C. Schwartz, 2010, BMC Genomics.

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

Juan I. Young, Lei Cao, A. Srivastava, 2012, PloS one.

Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome

A. Srivastava, D. Moretti-Ferreira, G. H. Vieira, 2015, Molecular Syndromology.

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

C. Skinner, R. Stevenson, Lei Cao, 2018, Biology.

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies

R. Stevenson, C. Schwartz, A. Srivastava, 2005, Cytogenetic and Genome Research.

The mutation spectrum of the EDA gene in X‐linked anhidrotic ectodermal dysplasia

J. Kere, G. Novelli, A. Srivastava, 2001, Human mutation.

Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure

D. Srivastava, P. Penzes, A. Srivastava, 2018, PloS one.

MECHANISM AND REGULATION OF

D. Schlessinger, A. Srivastava, A. Srivastava, 1990 .

From ectodermal dysplasia to selective tooth agenesis

R. D'Souza, A. Srivastava, G. Whelan, 2009, American journal of medical genetics. Part A.

Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism

Liangjiang Wang, A. Srivastava, Brian L. Gudenas, 2017, PloS one.

POMGnT1 gene alterations in a family with neurological abnormalities

R. Saul, A. Srivastava, J. S. Collins, 2004, Annals of neurology.