S. Tohari

发表

Elephant shark genome provides unique insights into gnathostome evolution

Brian J. Raney, Javier Quilez, Shawn Hoon, 2014, Nature.

Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum)

S. Brenner, B. Venkatesh, B. Tay, 2013, Proceedings of the National Academy of Sciences.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Characterization of a hypoxia-response element in the Epo locus of the pufferfish, Takifugu rubripes.

S. Brenner, B. Venkatesh, S. Tohari, 2010, Marine genomics.

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

B. Venkatesh, V. Shaygannejad, Xiaohong Xu, 2019, Neurology: Genetics.

Corrigendum: Elephant shark genome provides unique insights into gnathostome evolution

S. Brenner, R. Wilson, L. Hillier, 2014, Nature.

Erythropoietin gene from a teleost fish, Fugu rubripes.

S. Brenner, B. Venkatesh, C. Chou, 2004, Blood.

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

B. Venkatesh, S. Jamuar, C. Bonnard, 2020, American journal of medical genetics. Part A.

A Trans-Species Missense SNP in Amhr2 Is Associated with Sex Determination in the Tiger Pufferfish, Takifugu rubripes (Fugu)

S. Brenner, B. Venkatesh, Yuzuru Suzuki, 2012, PLoS genetics.

Detailed deletion mapping at chromosome 11q23 in colorectal carcinoma

J. McGee, K. Eu, S. Tohari, 2000, British Journal of Cancer.

Integration of the Genetic Map and Genome Assembly of Fugu Facilitates Insights into Distinct Features of Genome Evolution in Teleosts and Mammals

S. Brenner, B. Venkatesh, Alice Tay, 2011, Genome biology and evolution.

Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult

F. Ginhoux, B. Venkatesh, V. Shaygannejad, 2022, Brain pathology.

Ermin deficiency as an inside-out model of inflammatory dysmyelination

F. Ginhoux, B. Venkatesh, V. Shaygannejad, 2020, bioRxiv.

Schwartz-Jampel Syndrome (SJS1), Type 1 a Novel Variant in the HSPG2 Gene

B. Venkatesh, C. Bonnard, B. Reversade, 2018 .

Voltage-gated sodium channel gene repertoire of lampreys: gene duplications, tissue-specific expression and discovery of a long-lost gene

B. Venkatesh, Jianfeng Ren, H. Zakon, 2017, Proceedings of the Royal Society B: Biological Sciences.

Lampreys, the jawless vertebrates, contain only two ParaHox gene clusters

S. Brenner, B. Venkatesh, B. Tay, 2017, Proceedings of the National Academy of Sciences.

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

B. Venkatesh, Kanika Jain, S. Jamuar, 2020, Archives of Disease in Childhood.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

B. Venkatesh, E. Valente, E. Tan, 2018, European journal of medical genetics.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

B. Venkatesh, C. Bonnard, R. Ganger, 2019, Bone.

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

S. Nelson, B. Venkatesh, A. Kariminejad, 2016, Archives of Iranian medicine.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

B. Venkatesh, C. Bonnard, R. Singaraja, 2018, BMC Medical Genetics.

Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study

B. Venkatesh, A. Mathuru, S. Tohari, 2021, Journal of clinical medicine.

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

B. Venkatesh, N. Navaratnam, H. Kayserili, 2020, The Journal of experimental medicine.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, Paul Roschger, Klaus Klaushofer, 2017, American journal of human genetics.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

B. Venkatesh, M. Gut, I. Gut, 2017, American journal of human genetics.

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

S. Nelson, B. Venkatesh, R. Hegele, 2016, Cilia.

Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum)

S. Brenner, B. Venkatesh, B. Tay, 2013, Proceedings of the National Academy of Sciences of the United States of America.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, B. Venkatesh, H. Kayserili, 2017, American journal of human genetics.

Cyclostomes Lack Clustered Protocadherins.

S. Brenner, B. Venkatesh, B. Tay, 2016, Molecular biology and evolution.