Molecular Genetics and Metabolism

Article	Citations
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation	63
Substrate reduction therapy for Pompe disease: Small molecule inhibition of glycogen synthase 1 in preclinical models	52
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	50
Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses	43
Newborn screening for Gaucher disease in Japan	38
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	34
GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses	34
Filipin composition and imaging modality dramatically affect cellular cholesterol visualisation with implications for assessing cholesterol levels and localisation across the lysosomal disorders	32
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study	32
Characteristics of patients who have switched from alglucosidase alfa to avalglucosidase alfa: Baseline data from the Pompe Registry	31
Estimation of stroke risk in patients with Fabry disease using a machine learning model	31
Case-based education on Gaucher disease significantly improves physician competence in appropriate next steps after suspecting the diagnosis	27
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data	26
Quantitative systems pharmacology (QSP) analysis predicts that olipudase alfa treatment of patients with extreme acid sphingomyelinase deficiencies can result in meaningful debulking of visceral tissu	26
Atidarsagene autotemcel, a European post-regulatory approval model for delivery of autologous hematopoietic stem cell gene therapy products via a network of qualified treatment centers (QTCs)	23
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	22
RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model	22
Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter	22
Spontaneous seizures associated with cortical interneuron loss in mice are ameliorated via gene therapy	21
Safety and compliance of home infusion of velmanase alfa for the treatment of alpha-mannosidosis in the clinical trial and real-world settings	21
Resolving variants of unknown significance and pseudodeficiency alleles	20
A case of a presumed diagnosis of Morquio syndrome	20
Raregivers™ Emotional Journey Map presented by ANGEL AID Cares	19
Empowering the GM1 and GM2 community with a co-created education resource about a natural history study	19
Elimination of the gene normalizes lifespan and prevents pathology in Tay-Sachs disease mice	19

A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis	19
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease	18
The ratio of Niemann-Pick disease type A/B to cases of Gaucher disease varies by country	18
Mucopolysaccharidosis type VII treated in the first year of life: A case report	18
Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit	18
Real-world impact of enzyme replacement therapy on endurance in patients with MPS IVA	18
AAV-mediated gene therapy in a mouse model of sialidosis	17
Lyso-Gb3 determination in classic and late onset Fabry patients	16
Single cell resolution of neurodegeneration in Gaucher disease	16
Building a better translational model of neuropathic Gaucher disease	16
Diagnosis of vitamin B deficiencies inducing inherited metabolic diseases (IMD) using GC-MS	15
X chromosome inactivation, ⍺-galactosidase A activity and lyso-Gb in Danish heterozygous females with Fabry disease	15
Home-infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials (COMET, NEO-EXT, and Mini-COMET)	15
Wolman disease presenting with secondary hemophagocytic lymphohistiocytosis	15
Novel regulatory function of GCN5L1 in lysosomal tubulation and biogenesis	15
Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy	15
Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses	15
Mechanism-guided analysis of avalglucosidase alfa efficacy on key biomarkers and clinical endpoints in late-onset Pompe disease patients	15
Identification of late-onset GM2 gangliosidoses (LOGG) patients using Optum's de-identified Market Clarity Database	15
Development of a Fabry disease screening tool for chronic pain patients - step 1: Categorization based on phenotypic risk profiles	14
Publisher's Note	14
Fabry cardiomyopathy in Finland: A Fabry registry study	14
Fabry disease: Effectiveness of interactive case-based online education in improving knowledge and competence in diagnosis	14
Extensive diagnostic odyssey for a patient with Gaucher disease	14
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation	14
Characterizing expressive language skills in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective	13
Clinical, genetic characteristics in Russian patients with Hurler syndrome	13
The getting global rare disease insights through technology (GRIT) study: Patient activation and pain management through a digital app for patients with metabolic genetic disease	13
Two siblings with attenuated MPS II form: Long term enzyme replacement therapy	13
Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)	13
Possible increased incidence of pathogenic deletions in exons 11–17 causing infantile onset Krabbe disease in individuals from Ahmadabad in the Indian state of Gujarat	13
Efficacy of an anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis type IIIA mice	12
WORLDSymposium™ 2022 Author Index	12
Red Fabry: First year results of a Spanish pedigree project on Fabry disease	12
Transition to eliglustat in an individual with Gaucher disease type 1 on antipsychotic medication	12
Development of formulated resveratrol (micellar resveratrol) as a small molecule treatment for MPS I	12
Diagnostic strategy for suspected cases of Fabry disease	12
Synergistic action of the chemical chaperone 4-phenylbutyrate and the pharmacological chaperone migalastat on restoration of α-galactosidase activity of Fabry G258R mutation	12
Table of Contents	12
HMI-203: Investigational gene therapy for mucopolysaccharidosis type II (MPS II), or Hunter syndrome	12
Table of Contents	12
Altered gut microbiome diversity and function in patients with propionic acidemia	11
Cover 2 / Ed. Board	11
A RABBIT MODEL OF CYSTINOSIS HAS DEPOSITION OF CYSTINE CRYSTALS IN THE CORNEA	11
KINETIC ANALYSIS OF N-DEACETYLASE/N-SULFOTRANSFERASE (NDST1) INHIBITORS USING A FLUOROMETRIC COUPLED ENZYME ASSAY	11
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data	11
Brain proton MR spectroscopy measurements in CLN3 disease	11
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	11
THE PHARMACOKINETICS OF TASTE-MASKED SODIUM PHENYLBUTYRATE (ACER-001) FOR THE TREATMENT OF UREA CYCLE DISORDERS UNDER FASTING AND FED CONDITIONS IN HEALTHY VOLUNTEERS	11
Table of Contents	11

The qualitative development of the Pompe Disease Symptom Scale and the Pompe Disease Impact Scale	11
Metabolic aspects of glycogenolysis with special attention to McArdle disease	11
PREDICTORS OF SURVIVAL IN PRIMARY LACTIC ACIDOSIS	11
COMPARISON OF PHENYLALANINE ABSORPTION IN HEALTHY VOLUNTEERS AND PKU PATIENTS IN THE SYNPHENY-1 STUDY	10
FLAVIN ADENOSINE DINUCLEOTIDE SYNTHASE DEFICIENCY AN ATYPICAL CLINICAL PRESENTATION WITH A PUZZLING BIOCHEMICAL DERANGEMENT	10
METABOLOMIC STUDIES IN CORTICAL BRAIN ORGANOIDS	10
EFFECT OF CREATINE SUPPLEMENTATION ON AGAT EXPRESSION AND METABOLIC INTERMEDIATES IN GAMT-DEFICIENT MICE	10
GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITHOUT GNE MYOPATHY	10
SUCCESSFUL CARDIAC TRANSPLANTATION AND LONG-TERM FOLLOW-UP IN -ASSOCIATED DILATED CARDIOMYOPATHY WITH ATAXIA	10
USE OF CRISPR TO VALIDATE CANDIDATE MUTATION IN OVINE GM1 GANGLIOSIDOSIS VARIANT	10
GENE THERAPY FOR PROPIONIC ACIDEMIA	10
ARIMOCLOMOL IN ADULTS WITH NPC IN A REAL-WORLD SETTING DATA FROM AN EXPANDED ACCESS PROGRAM IN THE USA	10
GYNECOLOGIC ISSUES IN METHYLMALONIC ACIDEMIA (MMA), COBALAMIN DISORDERS AND PROPIONIC ACIDEMIA	10
MOLYBDENUM COFACTOR DEFICIENCY (MOCD): THE ROLE OF SEQUENCING AND BIOCHEMICAL TESTING	10
THE MECHANISM OF CREATINE MEDIATED DOWNREGULATION OF AGAT EXPRESSION	10
Pregnancy with Morquio syndrome type A: What are patients' perspectives and has enzyme replacement therapy (ERT) changed them?	9
IMPACT OF HYPERAMMONEMIA IN UREA CYCLE DISORDERS (UCD) ON DOWNSTREAM MARKERS OF IMPAIRED NEUROCOGNITION: USING NONINVASIVE IMAGING TO DELINEATE STRUCTURAL, METABOLIC AND FUNCTIONAL CONSEQUENCES	9
Long-term intravenous galsulfase in Maroteaux-Lamy syndrome further reduces urine glycosaminoglycans (GAG) after hematopoietic stem cell transplantation and improves cardiac function and endurance	9
Project Searchlight Gaucher study design: Real-world evaluation and validation of a rare disease algorithm to identify persons at risk of Gaucher disease using data from electronic health records in t	9
Enzyme replacement therapy treatment patterns and patient outcomes in late-onset Pompe disease	9
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use	9
HOW FREQUENTLY ARE INDIVIDUALS WITH PROPIONATE PATHWAY DISORDERS HOSPITALIZED?	9
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene	9
Disease phenotypes present in CLN7 patient fibroblasts are improved following treatment to reduce glycosphingolipid synthesis	9
Making the case for global carrier screening for Tay-Sachs disease	9
GOAL-GD: A smartphone application to enhance patient engagement in a real-world study of treatment switching in patients with Gaucher disease type 1	9
IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD	9
Prenatal diagnosis of Pompe disease	9
Table of Contents	9
The Boston Children's Hospital (BCH) four year experience with the Massachusetts State Newborn Screening (NBS) pilot program for mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adren	9
Phenocopy of acroparesthesias complicating a Fabry disease diagnosis	9
P.10 Latest results from the COMPOSE® Phase 1/2 trial of pegtibatinase, a novel investigational enzyme replacement therapy for classical homocystinuria (HCU)	8
Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis	8
Influence of lysosomal diseases on reproductive parameters of animal models	8
Version control and crosswalk in cognitive assessment: Transitioning from the fourth to fifth edition of the Wechsler Intelligence Scale for Children (WISC) in children with NCL disorders/Batten disea	8
Initiation of pharmacologic chaperone therapy for Fabry disease in the Canadian Fabry Disease Initiative (CFDI) registry is not associated with reduction of kidney function	8
DNL310 normalizes primary storage substrates and biomarkers of lysosomal dysfunction in neuronopathic MPS II: 2-year interim analysis of a phase 1/2 study	8
P.44 Patient and provider virtual summit: the current state of medium chain acyl-CoA dehydrogenase deficiency management	8
Migalastat 150 mg every other day achieves bioequivalent exposures in adolescent and adult patients with Fabry disease	8
Migalastat clinical dose is highly extracted by hemodialysis and hemodiafiltration	8
Neurodegenerative role of lysosomal cathepsin B in MPS IIIC	8
The diagnostic challenge of mild citrulline elevation at newborn screening	8
P.47 Association between cobalamin deficiency detected through newborn screening and creatine levels in mothers and their offspring in the neonatal period	8
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders	8
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center	8
A Hunter syndrome sibling pair: Differential effects of age at initiation of enzyme replacement therapy on growth, orthopedic disease, and daily living skills	8
New insights into GI manifestations in late-onset Pompe disease: Lessons from the bench and bedside	8
Analysis of pooled data from clinical trials in treatment-naïve patients with late-onset Pompe disease (LOPD) to inform on the efficacy of avalglucosidase alfa	8
P.20 Utilizing the BioPKU database to personalize nutrition and treatment interventions for patients with PKU	7
P.32 Introducing food allergens to infants with amino acid disorders using a clinic guide and supportive patient educational materials	7
The synergy of multiplex testing to screen for lysosomal disorders (LD)	7
Assessing bone mineral density in Fabry disease	7
Diagnostic confidence for CLN3 disease	7
Long-term treatment with migalastat 150 mg every other day is associated with sustained cardiac efficacy and is well tolerated	7
Long-term follow-up in an adult patient with Schindler disease	7
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	7
P.49 Uncommon rare disease nutrition management: hypokalemic periodic paralysis	7
P.9 Findings of a patient registry for MSUD using coordination of rare diseases at Sanford (CoRDS)	7
Comparative systemic and neurologic effectiveness of intravenous and intrathecal AAV9 delivered individually or combined in a murine model of mucopolysaccharidosis type I	7
Program and AbstractsWORLDSymposium™ 2021*17th Annual Research MeetingVirtual Scientific Sessions	7
Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease	7
Neurocognitive development and adaptive behavior in mucolipidosis type II: A retrospective analysis of 11 patients	7
O.2 Protein requirements in phenylketonuria adults and bioavailability of glycomacropeptide compared to an L-amino acid based product	7
P.14 APHENITY extension study dietary phe tolerance assessment design using 3-day diet records: an interim report	7
P.54 Blenderized tube feeding in metabolic patients: survey results from metabolic dietitians in the U.S.	7
Newborn screening for Krabbe disease in Illinois: A single center's experience	7
Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center	7
First experience of switching from enzyme replacement therapy to oral chaperone migalastat for treating Fabry disease in Korea	7
Subretinal injection of RGX-381 to cynomolgus monkeys leads to supraphysiological levels of TPP1 in the eye	7
Mini-COMET study: Effects of repeat avalglucosidase alfa dosing on ptosis in participants with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa	7
P.6 Evaluation of UCD Anamix Infant as a nutritionally safe and tolerable option for infants with confirmed UCD	7
Pharmacokinetics and biomarker responses in patients with Gaucher disease type 3 or -associated Parkinson's disease treated with venglustat	6
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice	6
Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil	6
Effect of supraphysiological alpha-L-iduronidase (IDUA) expression on skeletal manifestations in mucopolysaccharidosis type I (MPS I) mice following ex vivo lentiviral vector transduction of hematopoi	6
Arimoclomol reduces levels of biomarkers of lipid burden in patients with Niemann-Pick disease type C	6
Evaluation of neurofilament light chain as a biomarker for mucopolysaccharidosis type IIIB	6
A natural history study of Sanfilippo syndrome type D (MPS type IIID)	6
Timing is everything in Hunter syndrome: Differential clinical courses associated with age at initiation of therapy in a sibling pair	6
Assessment and management of tracheomalacia in adult mucopolysaccharidosis type II: A case report	6

Functional modeling of human lysosomal acid alpha-glucosidase variants	6
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels	6
Mass spectrometry analysis of the vitreous fluid from a Gaucher disease type 3 patient	6
Symptoms of Fabry disease in adolescents	6
In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease	6
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease	6
Single-dose AAV9-CLN6 gene transfer slows the decline in motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6: Interim results from phase 1/2 trial	6
iPSC-derived human neural stem cells engraft in the brains of immunocompromised MPS I mice	6
Busulfan conditioning allows high engraftment of human genome edited hematopoietic stem cells and improved central nervous system correction in a mucopolysaccharidosis type I mouse model	6
Fetal akinesia with SCN4A Lys674Pro variant: second reported case with detailed phenotype review	5
First screen, not worst screen! (the role of the first trimester screen in the cell free DNA era)	5
Collaboration between patient advocacy and industry to create a master protocol to investigate the novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C,	5
Cytogenomic microarray analysis as a first-tier clinical diagnostic test: Kaiser Permanente, Southern California Permanente Medical Group experience	5
Triploid dizygotic twin pregnancy: elucidating meiotic error using STR marker and chromosomal SNP microarray data	5
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework	5
models for the assessment of glycogen accumulation and depletion in various tissues	5
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	5
Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples	5
A combination of long-range PCR and long-read sequencing resolves common, high-risk dark and camouflaged carrier screening genes	5
Homozygous PISD truncating variant in an adult patient presenting with chronic dysphagia, hoarseness, pectus carinatum, hearing loss, and hemiparesis	5
Improving access to genetics services: building on the national evaluation of the Regional Genetics Networks for the next four years	5
Autosomal dominant mental retardation 22 (MRD22) in an adult with a de novo point mutation of ZBTB18 gene	5
Recurrent affected pregnancies ultimately leads to genetic diagnosis: a case report involving candidate gene CYS1	5
Performance of ultrasound, maternal serum screening and cell-free DNA for the detection of 22q11.2 deletion syndrome	5
Clinical utility of integrated cytogenetic methodologies in the identification and characterization of genetic aberrations in B-lymphoblastic leukemia with hypodiploidy	5
The impact of vitamin D in patients with lysosomal diseases on ERT	5
Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report	5
Patient-reported experiences with Fabry disease monitoring and disease burden in the real-world setting: Results from a double-blind, cross-sectional survey	5
Development and validation of a novel adeno-associated viral gene therapy for mucopolysaccharidosis type IIIB (MPS IIIB)	5
Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening	5
WORLDSymposium™ 2023 Abstract Keyword Index	5
Improving and accelerating clinical molecular diagnosis of severe hemophilia A with optical genome mapping technology	5
In silico analysis of similar protein sequences between Sars-Cov-2 and BCG vaccine	5
A comparison of genotyping and sequencing preemptive genetics screening programs in primary care settings	5
Prenatal diagnosis of an FLNB associated skeletal dysplasia	5
Successful experiences of preimplantation genetic testing for monogenic diseases (PGT-M): a step forward for clinical genetics in Mexico	5
Polygenic risk score-guided prostate cancer screening among white and Black US men: a Markov modeling study	5
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial	5
NeuroSCORE: A genome-wide OMICs based model to identify disease associated genes of the central nervous system	5
Bone marrow adipocytes alteration in an model of Gaucher disease	5
Beyond improving knowledge and competence: How continuing medical education closes gaps in the management of late-onset Pompe disease	5
AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study	5
Concurrent inversion(3)(q21q26.2) and translocation(3;21)(q26.2; q22) in the acceleration phase of chronic myeloid leukemia	5
Performance of in silico splice tools used at the GGC for decision-making in molecular diagnosis	5
Genomic screening identifies individuals at high risk for hereditary transthyretin amyloidosis	5
Key measurement concepts and appropriate clinical outcome assessments in pediatric achondroplasia clinical trials	5
Exome sequencing for neurodevelopmental disorders and the effect on patient management – a single center experience	4
Re-analysis of exome sequencing data for patients with epilepsy in the NCGENES cohort	4
Childhood prevalence of achondroplasia in New South Wales (NSW) and the Australian Capital Territory (ACT), Australia	4
Chromosomal microarray analysis offers superior cytogenomic evaluation of products of conception as compared to standard karyotype	4
Diagnosing rare diseases in HD (HAZEL + DITTO)	4
Two genetic counselors walk into a primary care clinic	4
Genomic sequencing results disclosure in diverse and underserved populations: themes, challenges and strategies from the CSER Consortium	4
Optical genome mapping for assessment of genomic aberrations in acute myeloid leukemia: a multicenter evaluation	4
Timing of newborn blood collection alters screening performance for metabolic disorders	4
SARS-2 related HUPRA syndrome presenting with neonatal lactic acidosis	4
HST5040: An investigational oral small molecule therapy entering phase 2 clinical development for methylmalonic (MMA) and propionic (PA) acidemias	4
Deletion of TBL1XR1: neurodevelopmental disorder with characteristic facial features	4
SouthSeq: genome sequencing as a frontline genetic test in the NICU	4
Title Page	4
Renal and secondary outcomes 1 year after switching from agalsidase alfa to pegunigalsidase alfa for Fabry disease (the BRIDGE study)	4
Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development	4
Novel 22q11.2 duplication (LCR22A-LCR22H) in two sisters	4
Uniparental disomy (UPD) of multiple chromosomes in a newborn with a complex phenotype	4
A framework designed to improve the evaluation and reporting of incidental findings in clinical genomic tests	4
Genetics simulation as a safe training tool for high-stakes conversations	4
Frequency and co-occurrence of comorbidities in the Ehlers-Danlos syndromes	4
A long-term, prospective, multicenter, in-clinic and online disease monitoring program (DMP) for patients with long-chain fatty acid oxidation disorders (LC-FAOD)	4
Natural history and systematic review of ophthalmic findings in peroxisome biogenesis disorders-Zellweger spectrum	4
Simpson-Golabi-Behmel syndrome in a female patient: a case report and review of the literature	4
Gene therapy: perceptions and attitudes among adults and parents of those with autism spectrum disorder	4
Germline alterations in cancer susceptibility genes in women with high-risk bladder cancer: implications for germline testing and clinical management	4
Editorial Board	4
Characterization of partial trisomy chromosome 11q in a patient with congenital anomalies and literature review	4
Leveraging unique chromosomal microarray probes to accurately detect copy number at the highly homologous 15q15.3 deafness-infertility syndrome locus	4
Vosoritide for children with achondroplasia: a 60-month update from an ongoing phase 2 clinical trial	4
Optical genomic mapping reveals balanced and unbalanced cytogenetic findings associated with tumor-forming potential in a prostate cancer cell line (M2205)	4
Barth syndrome caused by a novel TAZ deletion through an alu element-mediated mechanism: a case report	4
Biallelic NRAP variants are a significant cause of dilated cardiomyopathy	4
Impact of genetic relatedness of parents on reproductive outcomes	4
Clinical review of diagnostic testing: connecting physicians and laboratories	4
Urinary glucose tetrasaccharide correlates with phenotype in Pompe disease in the newborn period	4
MAPRE2-related disorder: expanding the neurodevelopmental phenotype	4
ALG8-CDG: new insights into an ultra-rare CDG	4
Assessment of patient utilization of pharmacogenomic consumer-initiated test results 4 weeks after genetic consultation	4
Prescription claims among persons with Ehlers-Danlos syndromes for drugs for cardiovascular autonomic dysfunction	4
Novel clinical model to deliver genetic services from a multidisciplinary primary care team	4
Launch of the gene curation coalition database	4
Lithium treatment rescues dysfunctional autophagy in the cell models of Tay-Sachs disease	3
Testing new biomarkers for lysosomal diseases	3
A proposal to efficiently improve diagnostic clarity, therapeutic and clinical referrals, disease and therapeutic understanding, and quality of life in the newborn screening ecosystem while reducing c	3
Editorial Board	3
Neuroradiological evaluation of Fabry disease patients in follow-up in a reference center before ERT	3
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease	3
Charles Scriver: Epitome of the physician scientist	3