S. Lalani

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
20260 citationsauthor #4
Improved Stem Cell Transplant Survival in Pediatric Inborn Errors of Metabolism (IEM) after 2010: A Single Center Experience of the Impact of Cord Blood Utilization and Conditioning Approach
20260 citationsauthor #12
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association.
20260 citationsauthor #42
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 ‐Related Mitochondrial Disorder
20251 citationsauthor #8
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
20250 citationsauthor #8
Diaphragmatic Dysfunction and Management in PBX1 Mediated Neonatal Respiratory Failure
20250 citationsauthor #3
O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations
20250 citationsauthor #26
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
20250 citationsauthor #27
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
20252 citationsauthor #29
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
20250 citationsauthor #27
Genomics and multiomics in the age of precision medicine
202551 citationsauthor #2
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
20251 citationsauthor #22
P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants
20250 citationsauthor #3
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
20254 citationsauthor #311
VUStruct: a compute pipeline for high throughput and personalized structural biology
20244 citationsauthor #27
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis
20247 citationsauthor #10
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
202478 citationsauthor #50
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
20248 citationsauthor #29
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
202413 citationsauthor #179
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
20242 citationsauthor #132
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
202413 citationsauthor #39
P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis
20240 citationsauthor #4
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease
20243 citationsauthor #7
De novo variants in DENND5B cause a neurodevelopmental disorder
20247 citationsauthor #153
P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly
20240 citationsauthor #5
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
20244 citationsauthor #23
Improving access to exome sequencing in a medically underserved population through the Texome Project.
20243 citationsauthor #3
Case Report: An association of left ventricular outflow tract obstruction with 5p deletions
20241 citationsauthor #9
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
20242 citationsauthor #21
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
20241 citationsauthor #26
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
20242 citationsauthor #136
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
202417 citationsauthor #14
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
20246 citationsauthor #27
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
20240 citationsauthor #125
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
202414 citationsauthor #59
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
20244 citationsauthor #20
692 Genetic findings among neonates with perinatal hypoxic-ischemic encephalopathy
20240 citationsauthor #10
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
20245 citationsauthor #143
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
202330 citationsauthor #25
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices
202314 citationsauthor #9
Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
20237 citationsauthor #179
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
20234 citationsauthor #127
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
202318 citationsauthor #214
Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study
202310 citationsauthor #8
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
20236 citationsauthor #22
Participation in a national diagnostic research study: assessing the patient experience
20234 citationsauthor #129
Response to Tofacitinib in an Infant with Aicardi-Goutières Syndrome due to Biallelic Variants in RNU7–1
20230 citationsauthor #3
P284: Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with heterotaxy syndrome
20230 citationsauthor #7
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
202318 citationsauthor #39
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
20235 citationsauthor #155
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
202317 citationsauthor #132
P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform
20230 citationsauthor #15
Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental Delay
20230 citationsauthor #6
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
202312 citationsauthor #9
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
202327 citationsauthor #167
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement
20232 citationsauthor #24
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
20236 citationsauthor #133
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
20237 citationsauthor #17
Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss
20231 citationsauthor #10
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
202313 citationsauthor #11
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
202311 citationsauthor #137
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
20238 citationsauthor #30
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
20223 citationsauthor #5
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
202218 citationsauthor #31
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias
20223 citationsauthor #2
Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis.
20220 citationsauthor #7
LMOD2‐related dilated cardiomyopathy presenting in late infancy
202213 citationsauthor #10
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain
20225 citationsauthor #22
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
20228 citationsauthor #5
Cardiac Crises: Cardiac Arrhythmias and Cardiomyopathy during TANGO2-deficiency related Metabolic Crises.
202226 citationsauthor #28
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis
20225 citationsauthor #7
eP223: Dominant-acting MAP3K20 variants cause split-foot malformation and sensorineural hearing loss
20220 citationsauthor #8
B‐complex vitamins for patients with TANGO2‐deficiency disorder
202217 citationsauthor #8
eP117: Natural history study of an international TANGO2 deficiency cohort
20220 citationsauthor #8
Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients.
202229 citationsauthor #34
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
202211 citationsauthor #19
TANGO2 deficient iPSC-differentiated cardiomyocyte and dermal fibroblasts have normal mitochondrial OXPHOS function
20222 citationsauthor #5
Abstract 9544: PRDM16 Loss in 1p36 Deletion Syndrome is Associated With Worse Cardiovascular Outcomes: A Multi-Institutional Registry Study
20220 citationsauthor #17
The germline p53 activation syndrome: A new patient further refines the clinical phenotype
20226 citationsauthor #3
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
20223 citationsauthor #6
Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
20220 citationsauthor #10
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
202232 citationsauthor #6
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
20211 citationsauthor #32
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
202119 citationsauthor #41
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
202115 citationsauthor #17
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
20218 citationsauthor #8
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
202138 citationsauthor #4
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
202123 citationsauthor #153
B-AB13-02 A NOVEL VARIANT IN MANNOSE RECEPTOR C-TYPE 2 IDENTIFIED IN INDIVIDUALS WITH FAMILIAL WOLFF-PARKINSON-WHITE SYNDROME
20210 citationsauthor #6
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
20213 citationsauthor #6
One is the loneliest number: genotypic matchmaking using the electronic health record
20217 citationsauthor #30
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy
202114 citationsauthor #18
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
202136 citationsauthor #70
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
20211 citationsauthor #70
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
20211 citationsauthor #47
Kabuki-Syndrome and Congenital Heart Disease—A Twenty-Year Institutional Experience
20211 citationsauthor #4
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
202163 citationsauthor #137
Centers for Mendelian Genomics: A decade of facilitating gene discovery
202157 citationsauthor #119
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
202038 citationsauthor #47
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1
20201 citationsauthor #10

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