Genetics in Medicine

Papers
(The H4-Index of Genetics in Medicine is 44. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)
ArticleCitations
Predictors of low bone density and fracture risk in Loeys–Dietz syndrome434
Editorial Board399
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax348
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder210
Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic190
Editorial Board177
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department167
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study124
eP213: Phase 2 multiple ascending-dose study of SRP-5051 PPMO in patients with DMD amenable to exon 51 skipping: Part A results121
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities120
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations102
The training of future clinical geneticists: Evaluation and reflection on the ACMG Foundation for Genetic and Genomic Medicine Summer Genetics Scholars Program98
Editorial Board97
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies93
eP053: Detection of rare and novel fusions in pediatric B-Lymphoblastic Leukemia (B-ALL) by capture-based transcriptome sequencing (RNA-Seq)90
eP143: Newborn screening for X-linked adrenoleukodystrophy: Identification of isodisomy of X in an affected female infant90
eP167: The impact of glycogen storage disease type III on children and adults: Results from an online survey88
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration81
eP225: Novel compound variants in IGHMBP2 associated with CMT75
eP060: Characterizing the complex chromosomal rearrangements in a Philadelphia negative BCR/ABL1 positive case64
eP222: Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program63
eP062: Clinically significant goiters as the initial presentation of PTEN hamartoma tumor syndrome62
eP068: Homozygous SMN1 single nucleotide variant in a patient with SMA type 061
eP245: INCEPTUS multinational, prospective, natural history, run-in study of males with X-linked myotubular myopathy60
eP171: Family of three with truncating pathogenic variant in NFIA leading to central nervous system and urinary tract defects60
eP145: Severe Pierre Robin sequence and hydrocephalus in infant with TUBB3 variant59
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype58
eP191: Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells57
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature56
eP317: Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement55
eP227: Placental accelerated aging in antenatal depression54
eP258: Pre-analytical considerations are important in the pharmacological assessment of enzyme therapeutics53
eP279: More renal genetics specialists are needed: Experience from a tertiary medical center52
eP080: A rare case of mosaic trisomy 15 with chylothorax52
eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening51
eP434: Celebrating and commemorating the 2022 bicentennial of Mendel’s birth, the exhumation of Mendel's body for archeologic, anthropologic, and genomic research51
eP138: An informatics star allele calling workflow for direct typing of CYP2D6 from fully phased variants using PacBio HiFi reads51
eP324: Biallelic variants in DLL1 as a novel cause of severe spondylocostal dysostosis49
eP361: Democratizing carrier screening: A 34-gene panel of routine and challenging targets resolved using a single workflow48
eP367: How a GUS can fly: Triaging genes of uncertain significance in a clinical laboratory setting48
eP093: De novo interstitial deletion of chromosome 7p22.1p21.2: A case report45
eP428: Gender and sex discordance in genetic testing: Mayo Clinic Genomics Laboratory experience45
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia45
eP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification45
eP416: Assessment of the clinical implication of additional cytogenetic abnormalities in acute lymphoblastic leukemia with t(4;11)(q21;q23)44
eP466: The use of next generation prenatal screening in a low resource setting among Non-Hispanic Black and Hispanic patients44
eP382: Providing more answers for patients with supplemental RNA analysis44
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