James R. Lupski
Baylor College of Medicine
GeneMolecular biologyGeneticsGene duplicationBiology
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Publications 814
#1Qian Liu (BCM: Baylor College of Medicine)H-Index: 2
#2Christopher M. Grochowski (BCM: Baylor College of Medicine)H-Index: 2
Last. Pawel Stankiewicz (BCM: Baylor College of Medicine)H-Index: 56
view all 5 authors...
As genome sequencing methodologies have become more sensitive in detecting low-frequency rare-variant events, the link between post-zygotic mutagenesis and somatic mosaicism in the etiology of several human genetic conditions other than cancers has become more clear. Given that current clinical-genomics diagnostic methods have limited detection sensitivity for mosaic events, a copy-number variant (CNV) deletion inherited from a parent with low-level (<10%) mosaicism can be erroneously interprete...
#1Morasha Plesser Duvdevani (HUJI: Hebrew University of Jerusalem)H-Index: 1
#2Maria Pettersson (KI: Karolinska Institutet)H-Index: 8
Last. Tamar Harel (HUJI: Hebrew University of Jerusalem)H-Index: 4
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Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations, and complex chromosomal rearrangements (CCRs). We describe an infant with a clinical diagnosis of Cornelia de Lange syndrome (CdLS) in whom chromosome analysis revealed a de novo complex balanced translocation, 46,XY,t(5;7;6)(q11.2;q32;q13)...
#1Nurit Assia Batzir (Boston Children's Hospital)
#1Nurit Assia Batzir (BCM: Baylor College of Medicine)H-Index: 1
Last. Michael F. WanglerH-Index: 21
view all 36 authors...
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominant variants in ACTG2; however, the overall genetic architecture of visceral myopathy has not been well-characterized. We ascertained 53 families, with visceral myopathy based on megacystis, functional bladder/gastrointestinal obstruction, or microcolo...
#1Caitlin M. Burk (University of Pittsburgh)
#2Kara E. Coffey (University of Pittsburgh)H-Index: 1
Last. Hey J. Chong (University of Pittsburgh)H-Index: 1
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#1Kevin C K LloydH-Index: 35
#2David J. AdamsH-Index: 53
Last. Mary E. DickinsonH-Index: 44
view all 44 authors...
In vivo research is critical to the functional dissection of multi-organ systems and whole organism physiology, and the laboratory mouse remains a quintessential animal model for studying mammalian, especially human, pathobiology. Enabled by technological innovations in genome sequencing, mutagenesis and genome editing, phenotype analyses, and bioinformatics, in vivo analysis of gene function and dysfunction in the mouse has delivered new understanding of the mechanisms of disease and accelerate...
#1Hanyin Cheng (BCM: Baylor College of Medicine)
#1Hanyin Cheng (BCM: Baylor College of Medicine)H-Index: 3
Last. Gholson J. Lyon (DKFZ: German Cancer Research Center)
view all 56 authors...
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identi...
#1Kathie J. NgoH-Index: 1
#2Jessica E. RexachH-Index: 5
Last. Brent L. FogelH-Index: 21
view all 26 authors...
1 CitationsSource
#1Xinghuan Ding (Capital Medical University)H-Index: 2
#2Sen ZhaoH-Index: 3
Last. Kun Wang (Capital Medical University)H-Index: 3
view all 22 authors...
Background Genetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown. Objective To investigate potential FIA-causing genetic variants by rare variant interrogation and a family-based genomics approach in a large family with an extensive multigenerational pedigree with FIAs. Method Exome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms (IAs). Variants were...
#1Adam C Gunning (University of Exeter)H-Index: 2
#2Klaudia Strucinska (OMRF: Oklahoma Medical Research Foundation)
Last. Christopher M. Grochowski (BCM: Baylor College of Medicine)H-Index: 2
view all 29 authors...
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates with a lethal metabolic disorder characterized by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures in whom a monoallelic reciprocal duplication at the ATAD3 locus was identified. Analysis of the breakpoin...
#1Shan Chen (BCM: Baylor College of Medicine)H-Index: 10
#2Mahim Jain (BCM: Baylor College of Medicine)H-Index: 16
Last. Brendan Lee (BCM: Baylor College of Medicine)H-Index: 64
view all 15 authors...
Worldwide, one in five men aged over 50 years will experience osteoporosis or a clinical bone fracture, with a greater fracture-related mortality rate than women. However, the genetic etiology of osteoporosis in men is still poorly understood. We aimed to identify the genetic variants and candidate genes associated with extremely low or high BMD for a better understanding of the biology underlying low bone density that may point to potential therapeutic targets for increasing bone mass. Subjects...