S. Lalani

发表

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

Donna M. Martin, Y. Raphael, W. Layman, 2009, Human molecular genetics.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

L. Vissers, A. Hoischen, R. Pfundt, 2009, Human molecular genetics.

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Cell.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

J. Rosenfeld, C. Shaw, S. Lalani, 2021, Journal of Medical Genetics.

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

P. Stankiewicz, M. Rao, Ankita Patel, 2013, Genome research.

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

P. Stankiewicz, A. C. Chinault, Ankita Patel, 2006, Genetics in Medicine.

6q22.1 microdeletion and susceptibility to pediatric epilepsy

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2014, European Journal of Human Genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Other genomic disorders and congenital heart disease

S. Lalani, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Cardioskeletal Muscle Disease Associated With Chromosomal Disorders

S. Lalani, 2017 .

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.

L. Shaffer, B. Morrow, S. Lalani, 1999, American journal of human genetics.

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

S. Lalani, Brendan H. Lee, Jose-Miguel Yamal, 2018, Genetics in Medicine.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

S. Cheung, B. Morrow, S. Lalani, 2014, PloS one.

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

S. Lalani, B. Bejjani, T. Sahoo, 2006, BMC Medical Genetics.

Identification of proximal 1p36 deletions using array‐CGH: a possible new syndrome

Z. Ou, E. Roeder, V. Enciso, 2007, Clinical genetics.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

Aortopathy in the 7q11.23 microduplication syndrome

S. Lalani, R. Hinton, S. Ware, 2015, American journal of medical genetics. Part A.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, Ankita Patel, 2010 .

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome

P. Stankiewicz, Z. Xia, S. Cheung, 2010, American journal of medical genetics. Part A.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

K. Gunderson, Z. Ou, M. L. Cooper, 2007, Clinical genetics.

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Z. Ou, P. Stankiewicz, B. Dawson, 2012, European Journal of Human Genetics.

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis.

K. Worley, S. Lalani, W. Bi, 2022, medRxiv.

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

S. Lalani, Brendan H. Lee, Jose-Miguel Yamal, 2020, Genetics in Medicine.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

D. Tibboel, S. Lalani, Brendan H. Lee, 2012, American journal of medical genetics. Part A.

An unusual cause of peroneal neuropathy.

S. Lalani, Yaping Yang, Amitha L Ananth, 2014, Seminars in pediatric neurology.

Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events

Mahshid S. Azamian, J. Belmont, J. Towbin, 2017, American journal of medical genetics. Part A.

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

Mahshid S. Azamian, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

J. Belmont, J. Towbin, S. Lalani, 2003, American journal of medical genetics. Part A.

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome

Mahshid S. Azamian, S. Lalani, S. Morris, 2018, The Journal of pediatrics.

Personalized medicine approach confirms a milder case of ABAT deficiency

S. Lalani, J. Hunter, P. Bonnen, 2016, Molecular Brain.

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

S. Lalani, M. Shinawi, V. Sutton, 2019, Front. Neurosci..

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

J. Rosenfeld, S. Lalani, V. Sutton, 2019, American journal of medical genetics. Part A.

Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

Mahshid S. Azamian, S. Lalani, C. Murali, 2022, European Journal of Human Genetics.

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies

S. Lalani, L. Potocki, S. Ben-Shachar, 2009, American journal of medical genetics. Part A.

Overgrowth Syndromes—Evaluation, Diagnosis, and Management

S. Lalani, J. Manor, 2020, Frontiers in Pediatrics.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

S. Lalani, J. Hunter, Yaping Yang, 2015, American journal of medical genetics. Part A.

An Analysis of Hospital Mortality After Cardiac Operations in Children with Down Syndrome.

S. Lalani, S. Morris, L. Shekerdemian, 2020, Seminars in thoracic and cardiovascular surgery.

TANGO2 deficient iPSC-differentiated cardiomyocyte and dermal fibroblasts have normal mitochondrial OXPHOS function

S. Lalani, Yingqiong Cao, Lilei Zhang, 2022, bioRxiv.

Digital necrosis in an infant with severe spinal muscular atrophy

Michael F. Wangler, S. Lalani, M. Wangler, 2019, Neurology: Genetics.

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

K. Worley, Runjun D. Kumar, S. Lalani, 2022, American journal of medical genetics. Part A.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

P. Stankiewicz, Ankita Patel, S. Cheung, 2011, European Journal of Human Genetics.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

S. Lalani, F. Xia, J. Giltay, 2019, European Journal of Human Genetics.

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

P. Stankiewicz, L. Shao, Ankita Patel, 2008, American journal of medical genetics. Part A.

SNP genotyping to screen for a common deletion in CHARGE Syndrome

J. Belmont, J. Towbin, S. Lalani, 2005, BMC Medical Genetics.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

SEMA3E mutation in a patient with CHARGE syndrome

S. Lalani, S. Fernbach, D. M. Martin, 2004, Journal of Medical Genetics.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Jonathan Berg, Ankita Patel, Z. Ou, 2008, American journal of human genetics.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2013, European Journal of Human Genetics.

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2020, American journal of medical genetics. Part A.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

Current Genetic Testing Tools in Neonatal Medicine.

S. Lalani, 2017, Pediatrics and neonatology.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

James T Lu, Richard A Gibbs, Philippe M Campeau, 2017, Cold Spring Harbor molecular case studies.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Robert W. Taylor, S. Lalani, W. Craigen, 2015, Cell metabolism.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Cytogenomic Aberrations in Congenital Cardiovascular Malformations

Mahshid S. Azamian, S. Lalani, 2016, Molecular Syndromology.

Other Genomic Disorders Causing Congenital Cardiovascular Malformations

S. Lalani, 2015 .

Genetic basis of congenital cardiovascular malformations.

J. Belmont, S. Lalani, 2014, European journal of medical genetics.

Phenotypic manifestations of copy number variation in chromosome 16p13.11

P. Stankiewicz, E. Roeder, Ankita Patel, 2011, European Journal of Human Genetics.

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Mahshid S. Azamian, S. Cheung, S. Lalani, 2017, PloS one.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Leif E. Peterson, L. D. White, R. Gibbs, 2006, American journal of human genetics.

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

J. Belmont, S. Lalani, Yaping Yang, 2015, American journal of medical genetics. Part A.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Donna M. Martin, S. Lalani, Philippe M. Campeau, 2018, Proceedings of the National Academy of Sciences.

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

Mahshid S. Azamian, S. Lalani, W. Bi, 2021, American journal of medical genetics. Part A.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

Mahshid S. Azamian, S. Lalani, V. Sutton, 2020, American journal of medical genetics. Part A.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Justyna A. Karolak, J. Rosenfeld, P. Stankiewicz, 2020, Genomics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

S. Lalani, R. Hinton, C. Maslen, 2015, Journal of cardiovascular development and disease.

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Mahshid S. Azamian, S. Scherer, J. Rosenfeld, 2022, Human mutation.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Mahshid S. Azamian, Magalie S Leduc, B. Coe, 2016, American journal of human genetics.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Ankita Patel, S. Lalani, D. M. Martin, 2015, American journal of medical genetics. Part A.

ipt Recurrent Deletions and Duplications of Chromosome 2 q 11 . 2 and 2 q 13 are Associated with Variable Outcomes

Donna M. Martin, Ankita Patel, S. Lalani, 2015 .

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human genetics.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

P. Stankiewicz, P. Stankiewicz, Ankita Patel, 2008, Pediatrics.

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

L. Shaffer, S. Lalani, C. Kashork, 2002, American journal of medical genetics.

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2014, European Journal of Human Genetics.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

J. Rosenfeld, S. Lalani, T. Schedl, 2022, Molecular genetics and metabolism.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

J. Rosenfeld, S. Lalani, T. Schedl, 2022, bioRxiv.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

P. Stankiewicz, E. Roeder, S. Cheung, 2010, European Journal of Human Genetics.

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

P. Stankiewicz, Z. Xia, S. Cheung, 2009, neurogenetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

S. Lalani, Brendan H. Lee, Jose-Miguel Yamal, 2020, Genetics in Medicine.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Ankita Patel, Chad A. Shaw, Carlos A. Bacino, 2013, PLoS genetics.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, A. Beaudet, S. Lalani, 2017, Journal of autism and developmental disorders.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, S. Lalani, M. Shinawi, 2016, Journal of Autism and Developmental Disorders.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Magalie S Leduc, H. Brunner, S. Lalani, 2018, Human mutation.

Lung Transplantation for FLNA‐Associated Progressive Lung Disease

S. Lalani, S. Morris, L. Burrage, 2017, The Journal of pediatrics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

C. Shaw, S. Cheung, T. Bohan, 2015, Orphanet Journal of Rare Diseases.

Chromosome 5q33 deletions associated with congenital heart defects

C. Mercer, S. Lalani, D. Scott, 2016, American journal of medical genetics. Part A.

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

David R. Murdock, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

J. Belmont, S. Lalani, S. Ware, 2011, Genome Biology.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

J. Rosenfeld, S. Lalani, Yaping Yang, 2019, Neurology: Genetics.

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.

S. Lalani, W. Bi, A. Adesina, 2019, European journal of medical genetics.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

C. Shaw, J. Belmont, S. Lalani, 2016, Philosophical Transactions of the Royal Society B: Biological Sciences.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

J. Rosenfeld, A. Kania, S. Lalani, 2022, Brain : a journal of neurology.

Coarctation of the aorta and mild developmental delay in a child with a de novo deletion of 15 ( q 21 . 2 q 22 . 1 )

S. Lalani, B. Bejjani, T. Sahoo, 2005 .

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Mahshid S. Azamian, J. Rosenfeld, A. Breman, 2016, Journal of Medical Genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

S. Lalani, Brendan H. Lee, Jose-Miguel Yamal, 2018, Genetics in Medicine.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

TGFBR2 deletion in a 20‐month‐old female with developmental delay and microcephaly

P. Stankiewicz, S. Cheung, S. Lalani, 2011, American journal of medical genetics. Part A.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Undiagnosed Diseases Network, J. Rosenfeld, P. Striano, 2022, The Cerebellum.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

A. Hoischen, S. Lalani, D. Wieczorek, 2023, Genetics in Medicine.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum

J. Rosenfeld, J. Belmont, A. Vanderver, 2018, Genetics in Medicine.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

J. Rosenfeld, J. Belmont, S. Lalani, 2018, bioRxiv.

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Mahshid S. Azamian, S. Lalani, R. Ghosh, 2019, American journal of medical genetics. Part A.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

The germline p53 activation syndrome: A new patient further refines the clinical phenotype

Runjun D. Kumar, S. Lalani, A. Bertuch, 2022, American journal of medical genetics. Part A.

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

S. Lalani, F. Scaglia, G. Vladutiu, 2005, Archives of neurology.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study

Mahshid S. Azamian, S. Lalani, D. Scott, 2023, American journal of medical genetics. Part A.

B‐complex vitamins for patients with TANGO2‐deficiency disorder

S. Lalani, P. Lonlay, J. Meisner, 2022, Journal of inherited metabolic disease.

Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients.

Mahshid S. Azamian, S. Lalani, S. Morris, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Cardiac Crises: Cardiac Arrhythmias and Cardiomyopathy during TANGO2-deficiency related Metabolic Crises.

Mahshid S. Azamian, S. Lalani, P. Kannankeril, 2022, Heart rhythm.

S. Lalani, Yaping Yang, B. Graham, 1993 .

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, S. Cheung, 2010 .

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Mahshid S. Azamian, K. Worley, S. Lalani, 2022, American journal of medical genetics. Part A.

Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report

S. Lalani, C. Bacino, L. Rossetti, 2020, American journal of medical genetics. Part A.

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

Mahshid S. Azamian, S. Lalani, I. Campbell, 2020, American journal of medical genetics. Part A.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

A novel CACNA1A variant in a child with early stroke and intractable epilepsy

Mahshid S. Azamian, S. Lalani, J. Hunter, 2020, Molecular genetics & genomic medicine.

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

Duplication of HEY2 in cardiac and neurologic development

J. Rosenfeld, S. Lalani, D. Scott, 2015, American journal of medical genetics. Part A.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

J. Rosenfeld, S. Lalani, U. Kini, 2023, European Journal of Human Genetics.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.

Mahshid S. Azamian, S. Lalani, B. Landis, 2023, Journal of the American Heart Association.

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

S. Lalani, B. Bejjani, T. Sahoo, 2006, BMC Medical Genetics.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Z. Ou, Ankita Patel, J. Lupski, 2008, American journal of human genetics.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Lisa T. Emrick, S. Lalani, M. Shinawi, 2019, Front. Neurosci..

Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.

Mahshid S. Azamian, S. Lalani, R. Santos-Cortez, 2023, Acta medica Philippina.

Congenital rubella syndrome

S. Lalani, K. Chayama, A. Cleare, 2020, Definitions.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Congenital dysfibrinogenemia.

S. Lalani, K. Chayama, A. Cleare, 1984, Current problems in clinical biochemistry.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

S. Lalani, U. Kini, B. Landis, 2023, European Journal of Human Genetics.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

J. Rosenfeld, S. Mostafavi, K. Worley, 2023, Journal of Medical Genetics.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human Molecular Genetics.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

S. Lalani, K. Chayama, M. Vikkula, 1999, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

S. Lalani, Hsiao-Tuan Chao, C. Bacino, 2024, American journal of human genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease

S. Lalani, Elizabeth Mizerik, Amanda Gerard, 2024, American journal of medical genetics. Part A.

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Lisa T. Emrick, Ellen F. Macnamara, S. Lalani, 2024, Human genetics.

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement

S. Lalani, Blake Vuocolo, Claudia Soler-Alfonso, 2023, Research square.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.