Skip to Main Content

Author Details

Shalini N Jhangiani
Baylor College of Medicine
2007
184
57
PMIDPaper TitleJournal TitlePublished Year
36598158A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.Am J Med Genet A2023
37711075Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.J Inherit Metab Dis2023
37934770Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.PLoS Genet2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37157980Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Clin Genet2023
37124138Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.HGG Adv2023
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
34329649Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.J Allergy Clin Immunol2022
35471564Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.Ann Neurol2022
35344616Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.Hum Mutat2022
36112137Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.Genet Med2022
36035248Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.HGG Adv2022
36303224The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.Genome Med2022
36054313Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.Hum Mutat2022
35948005A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.Am J Hum Genet2022
35191117Variant-level matching for diagnosis and discovery: Challenges and opportunities.Hum Mutat2022
35332675Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.Am J Med Genet A2022
34761517Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Am J Med Genet A2022
34816580Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.Am J Med Genet A2022
34605855Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain2022
33260061Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.Parkinsonism Relat Disord2021
33544954Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.Am J Med Genet A2021
33710394Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.Hum Genet2021
33797191A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.Am J Med Genet A2021
35047859Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.HGG Adv2021
34524739Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.Ann Clin Transl Neurol2021
34407837PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.Orphanet J Rare Dis2021
34582790High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.Am J Hum Genet2021
34450031COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.Am J Hum Genet2021
34387403Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.Pediatr Diabetes2021
34385670Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.Genet Med2021
34185153IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.Hum Genet2021
34129815Exome variant discrepancies due to reference-genome differences.Am J Hum Genet2021
33964184Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.Am J Med Genet A2021
34089229Risk of sudden cardiac death in EXOSC5-related disease.Am J Med Genet A2021
34054129Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.Genet Med2021
33977145Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy.Neurol Genet2021
33434492Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.Am J Hum Genet2021
33048444Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.Am J Med Genet A2021
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
31520839Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.J Allergy Clin Immunol Pract2020
31692161A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.Hum Mutat2020
31769566Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.Hum Mutat2020
31794024Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.Brain2020
32935419Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.Hum Mutat2020
32655138Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.Genet Med2020
33011761Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.Brain2020
32954677Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.Am J Med Genet A2020
32233023Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.Am J Med Genet A2020
32161841Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).JBMR Plus2020
  • 1 - 50 of 184

Recommended Authors

Nadja Ehmke
Berlin Institute of Health at Charite - Universitatsmedizin Berlin
Career Start Year 2014
Number of shared co-authors 17
Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Career Start Year 2014
Number of shared co-authors 9
Irene Valenzuela
Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari
Career Start Year 2013
Number of shared co-authors 21
Eric Scott
Rady Children's Institute for Genomic Medicine, University of California
Career Start Year 2011
Number of shared co-authors 15
Francesca Clementina Radio
Ospedale Pediatrico Bambino Gesu IRCCS
Career Start Year 2009
Number of shared co-authors 32
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Career Start Year 2009
Number of shared co-authors 17
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Career Start Year 2008
Number of shared co-authors 19
Susanne Motameny
University of Cologne
Career Start Year 2008
Number of shared co-authors 10
Susan M Hiatt
HudsonAlpha Institute for Biotechnology
Career Start Year 2008
Number of shared co-authors 33
Angela Del Pozo
Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Career Start Year 2008
Number of shared co-authors 7
Ahmet Okay Caglayan
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 13
Charu Deshpande
Guy's Hospital
Career Start Year 2006
Number of shared co-authors 34
Bryn D Webb
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 9
Irina R Tikhonova
School of Pharmacy, Queen's University Belfast
Career Start Year 2006
Number of shared co-authors 12
Malte Spielmann
Max Planck Institute for Molecular Genetics
Career Start Year 2005
Number of shared co-authors 21
Michael A Simpson
King's College London
Career Start Year 2002
Number of shared co-authors 23
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Career Start Year 2001
Number of shared co-authors 22
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 44
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 22
Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Career Start Year 1999
Number of shared co-authors 41
Timothy W Yu
Harvard Medical School
Career Start Year 1997
Number of shared co-authors 43
Fuki M Hisama
University of Washington
Career Start Year 1996
Number of shared co-authors 27
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 12
Patrick S Tarpey
Wellcome Trust Sanger Institute
Career Start Year 1992
Number of shared co-authors 16
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 33
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Career Start Year 1990
Number of shared co-authors 65
Stephen W Scherer
The Hospital for Sick Children
Career Start Year 1990
Number of shared co-authors 87
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Career Start Year 1983
Number of shared co-authors 39
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 89
Asl??han Tolun
Istanbul Technical University
Career Start Year 1974
Number of shared co-authors 15

Collaborators

James R Lupski
Baylor College of Medicine
Co-authored papers 156
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 140
Donna M Muzny
Baylor College of Medicine
Co-authored papers 118
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 97
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 63
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 49
Eric Boerwinkle
Baylor College of Medicine
Co-authored papers 43
Vernon R Sutton
Baylor College of Medicine
Co-authored papers 21
Wojciech Wiszniewski
Oregon Health & Sciences University
Co-authored papers 18
Yaping Yang
Baylor College of Medicine
Co-authored papers 15
Kim C Worley
Baylor College of Medicine
Co-authored papers 14
Harshavardhan Doddapaneni
Baylor College of Medicine
Co-authored papers 13
Pengfei Liu
Co-authored papers 12
Jianhong Hu
Co-authored papers 12
John W Belmont
Baylor College of Medicine
Co-authored papers 11
Christie L Kovar
Baylor College of Medicine
Co-authored papers 10
Sandra L Lee
Baylor College of Medicine
Co-authored papers 10
Lora R Lewis
Baylor College of Medicine
Co-authored papers 9
Marjorie Withers
Baylor College of Medicine
Co-authored papers 9
Stephen Richards
Baylor College of Medicine
Co-authored papers 9
Lynne V Nazareth
Baylor College of Medicine
Co-authored papers 9
Seema R Lalani
Co-authored papers 9
Geoffrey Okwuonu
Baylor College of Medicine
Co-authored papers 9
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 9
Sedat I????kay
Gaziantep University
Co-authored papers 8
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 8
Yi Han
Baylor College of Medicine
Co-authored papers 8
Christine R Beck
University of Connecticut Health Center
Co-authored papers 8
Arthur L Beaudet
Baylor College of Medicine
Co-authored papers 8
Hatip Aydin
Zeynep Kamil Maternity and Children's Training and Research Hospital
Co-authored papers 7
Release 1.2