Jawid M Fatih

发表

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

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

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

J. Rosenfeld, H. Hakonarson, J. Lupski, 2019, Brain : a journal of neurology.

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.

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

J. Lupski, R. Gibbs, S. Jhangiani, 2019, Annals of clinical and translational neurology.

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.

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

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

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.

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.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

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

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.

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Ivan K. Chinn, C. Shaw, J. Lupski, 2018, American journal of human genetics.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

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.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

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

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

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

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

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.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

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 GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

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

Risk of sudden cardiac death in EXOSC5‐related disease

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

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

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

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Johnathon R. Walls, Marc S. Williams, J. Lupski, 2020, European Journal of Human Genetics.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

J. Lupski, R. Gibbs, D. Muzny, 2023, HGG advances.

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.

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.

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

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

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.

J. Lupski, H. Bellen, J. Fock, 2022, Human molecular genetics.

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

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