Haowei Du

发表

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2022, Human mutation.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

J. Lupski, R. Gibbs, D. Muzny, 2021, American journal of human genetics.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

E. Zackai, J. Lupski, S. Jhangiani, 2020, American journal of medical genetics. Part A.

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Lon Phan, Todd J. Treangen, Junzhou Wang, 2020, F1000Research.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

Breast Tumors Maintain a Reservoir of Subclonal Diversity During Expansion

Thomas O. McDonald, Michael D. Nicholson, N. Navin, 2021, Nature.

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

C. Shaw, J. Lupski, J. Jankovic, 2020, Neurology: Genetics.

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

C. Shaw, J. Lupski, J. Jankovic, 2019 .

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

J. Lupski, J. Eisfeldt, A. Lindstrand, 2021, Frontiers in Genetics.

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

Mark J. P. Chaisson, Arun K. Subramaniyan, Justin N. Vaughn, 2021, F1000Research.

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.

Eric T. Dawson, Daniel L. Cameron, Zev N. Kronenberg, 2021, F1000Research.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Neurology: Genetics.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, Brain : a journal of neurology.

A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

J. Lupski, R. Gibbs, D. Muzny, 2023, American journal of medical genetics. Part A.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Annals of clinical and translational neurology.

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

J. Rosenfeld, J. Lupski, R. Gibbs, 2020, Annals of clinical and translational neurology.

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Genetics in Medicine.

Risk of sudden cardiac death in EXOSC5‐related disease

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

J. Lupski, R. Gibbs, S. Jhangiani, 2020, Brain : a journal of neurology.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of medical genetics. Part A.

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

J. Lupski, S. Jhangiani, D. Calame, 2023, Nucleic acids research.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.