Dong Li

发表

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

Hunna J. Watson, I. Ntalla, E. Zeggini, 2018, bioRxiv.

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Marni J. Falk, H. Hakonarson, Cecilia Kim, 2014, JIMD reports.

Expanding the phenotypic spectrum of TP63‐related disorders including the first set of monozygotic twins

H. Hakonarson, Z. Stark, M. Harr, 2018, American journal of medical genetics. Part A.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, Nature Genetics.

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

T. Strom, E. Blair, B. Puisac, 2020, Clinical genetics.

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Hunna J. Watson, James E. Mitchell, Melissa J. Green, 2020, medRxiv.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

E. Zackai, H. Hakonarson, A. Ganguly, 2020, Genetics in Medicine.

Ciliopathies: Coloring outside of the lines

Joseph T. Glessner, I. Krantz, J. Glessner, 2020, American journal of medical genetics. Part A.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

H. Hakonarson, L. Tian, Dong Li, 2018, Annals of Translational Medicine.

Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability

H. Hakonarson, M. March, Tiancheng Wang, 2022, American journal of medical genetics. Part A.

CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations

H. Hakonarson, M. Levine, K. Thummel, 2017, The Journal of clinical endocrinology and metabolism.

Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis

E. Zackai, Dong Li, E. Bhoj, 2020, American journal of medical genetics. Part A.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Contribution of Mendelian disorders in a population-based pediatric neurodegeneration cohort.

F. Mentch, Dong Li, E. Bhoj, 2022, The Journal of pediatrics.

High-Throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.

J. Danzig, M. Levine, Dong Li, 2021, The Journal of clinical endocrinology and metabolism.

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

S. Pulst, J. Carey, G. Mirzaa, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Adam C Gunning, E. Zackai, H. Hakonarson, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

E. Zackai, H. Hakonarson, L. Conlin, 2022, Molecular cytogenetics.

Beware of missed diagnosis in patients with multiple genetic diseases: a case report

Dong Li, Chun-quan Cai, Jianbo Shu, 2022, BMC Pediatrics.

Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis

Dong Li, Jing Meng, Jingjuan Huang, 2021, Italian Journal of Pediatrics.

Whole-Genome Sequencing Identified KCNJ12 and SLC25A5 Mutations in Port-Wine Stains

Yun Xia, Dong Li, Shanhu Qian, 2022, Frontiers in Medicine.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

M. Levine, J. Zaritsky, Dong Li, 2020, The Journal of clinical endocrinology and metabolism.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

Mark S. Anderson, H. Hakonarson, Cecilia Kim, 2017, The Journal of clinical endocrinology and metabolism.

The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing

Fanghua Ye, Dong Li, F. He, 2022, Frontiers in Pediatrics.

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

Dong Li, Chun-quan Cai, Xiu-fang Zhi, 2022, Frontiers in Genetics.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354+5 G>A of MED12 in a Chinese girl with non-syndromic intellectual disability.

Dong Li, Yaqiong Cui, Chun-quan Cai, 2022, Clinica chimica acta; international journal of clinical chemistry.

Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals

H. Hakonarson, Dong Li, E. Bhoj, 2016, American journal of medical genetics. Part A.

Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family

Dong Li, Chun-quan Cai, Chunhua Zhang, 2022, Frontiers in Pediatrics.

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

J. Y. Lee, M. Levine, S. McCormack, 2017, The Journal of clinical endocrinology and metabolism.

CYP3A4 mutation causes vitamin D–dependent rickets type 3

H. Hakonarson, P. Ebeling, M. Javaid, 2018, The Journal of clinical investigation.

SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases

H. Hakonarson, N. Matsumoto, S. Phadke, 2016, American journal of medical genetics. Part A.

Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region affecting methylation of exon A/B.

H. Hakonarson, M. March, M. Levine, 2020, The Journal of clinical endocrinology and metabolism.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Constantin Polychronakos, Yiran Guo, Dong Li, 2016 .

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

Dong Li, Chun-quan Cai, Xiu-fang Zhi, 2022, BMC Pediatrics.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Marni J. Falk, H. Hakonarson, C. Walsh, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant

Dong Li, P. Wang, Chun-quan Cai, 2022, Frontiers in Pediatrics.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Marni J. Falk, W. Chung, H. Hakonarson, 2018, Human molecular genetics.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease

H. Hakonarson, F. Mentch, Dong Li, 2021, American journal of medical genetics. Part A.

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

H. Hakonarson, Sarah E. Sheppard, D. Adams, 2020, EMBO molecular medicine.

CYP3A4 mutation causes vitamin D–dependent rickets type 3

H. Hakonarson, P. Ebeling, M. Javaid, 2018, The Journal of clinical investigation.

E. Zackai, I. Krantz, M. Deardorff, 2020, American journal of medical genetics. Part A.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

H. Hakonarson, Yiran Guo, N. Clarke, 2015, Neuromuscular Disorders.

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

John J. Connolly, H. Hakonarson, Cecilia Kim, 2016, BMC Musculoskeletal Disorders.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

Generalized congenital epithelioid blue nevi (pigmented epithelioid melanocytomas) in an infant: Report of case and review of the literature

L. Castelo-Soccio, E. Chu, Dong Li, 2019, Journal of cutaneous pathology.

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

Hunna J. Watson, Ryan L. Collins, Dan J Stein, 2019, bioRxiv.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, Nature Genetics.

Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients

E. Zackai, H. Hakonarson, C. Hou, 2021, American journal of medical genetics. Part A.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

H. Hakonarson, Dong Li, E. Bhoj, 2022, Molecular genetics & genomic medicine.

Genome sequencing as a single comprehensive test in molecular diagnosis

Dong Li, 2022, European Journal of Human Genetics.

Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2021, Genes.

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

Marni J. Falk, H. Hakonarson, Cecilia Kim, 2016, Case reports in genetics.

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.

F. Faucz, J. Bertherat, C. Stratakis, 2020, Endocrine-related cancer.

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Hongzhe Li, Constantin Polychronakos, Yiran Guo, 2015, Nature Communications.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

J. Rosenfeld, E. Zackai, L. Burrage, 2021, Molecular Autism.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

S. Girirajan, M. Deardorff, Matthew Jensen, 2020, Science Advances.

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, bioRxiv.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Marni J. Falk, H. Hakonarson, R. Chiavacci, 2016, American journal of human genetics.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

J. Parisi, P. Blackburn, X. Ortiz-González, 2018, American journal of medical genetics. Part A.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Dong Li, Hakon Hakonarson, Cuiping Hou, 2014, The Journal of clinical endocrinology and metabolism.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Common Genetic Variation and Age of Onset of Anorexia Nervosa

Hunna J. Watson, D. Pinto, S. Scherer, 2021, Biological Psychiatry Global Open Science.

Digenic Inheritance of PROKR 2 and WDR 11 Mutations in Pituitary Stalk Interruption Syndrome and Hormone Deficiencies

J. Y. Lee, --Manuscript Draft, M. Levine, 2017 .

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

H. Hakonarson, H. Toriello, R. Walker, 2022, Molecular genetics & genomic medicine.

A homozygous truncating NALCN variant in two Afro‐Caribbean siblings with hypotonia and dolichocephaly

H. Hakonarson, Dong Li, E. Bhoj, 2020, American journal of medical genetics. Part A.

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family

H. Hakonarson, J. Carey, Dong Li, 2020, Molecular genetics & genomic medicine.

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.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review

Dong Li, Zhongbin Zhang, W. Fan, 2022, Frontiers in Neurology.

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

H. Hakonarson, R. Chiavacci, C. Seiler, 2019, Nature Medicine.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Marni J. Falk, Nathan R. Wilson, E. Zackai, 2014, Journal of Medical Genetics.

Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children

J. Glessner, H. Hakonarson, H. Qu, 2020, Scientific Reports.

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

H. Hakonarson, C. Murali, Dong Li, 2019, American journal of medical genetics. Part A.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

E. Zackai, A. Telegrafi, C. Skraban, 2018, American journal of medical genetics. Part A.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Joseph T. Glessner, Ivan K. Chinn, J. Glessner, 2016, The Journal of allergy and clinical immunology.

Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0

Joseph K. Aicher, Dong Li, E. Bhoj, 2022, Human Genetics.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American journal of human genetics.

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

H. Hakonarson, Cecilia Kim, C. Hou, 2016, The Journal of clinical endocrinology and metabolism.

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

H. Hakonarson, Cecilia Kim, Yiran Guo, 2017, Scientific Reports.

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

John J. Connolly, I. Ntalla, E. Zeggini, 2017, Scientific Reports.

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

H. Hakonarson, D. Slater, Erum A. Hartung, 2021, American journal of medical genetics. Part A.

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

H. Hakonarson, Tiancheng Wang, J. Amiel, 2018, The Journal of clinical endocrinology and metabolism.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2020, Frontiers in Physiology.

A resolved discrepancy between multiplex PCR and multiplex ligation‐dependent probe amplification by targeted next‐generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene

Dong Li, Xiaoyue Tan, Chang Liu, 2018, Journal of clinical laboratory analysis.

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

S. Scherer, R. Pfundt, H. Hakonarson, 2023, American journal of medical genetics. Part A.

Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1

H. Hakonarson, Sarah E. Sheppard, Y. Dori, 2020, Clinical genetics.

Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition

H. Hakonarson, S. Greenberger, A. Vivante, 2022, Pediatric Research.

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

E. Zackai, H. Hakonarson, Sarah E. Sheppard, 2022, European Journal of Human Genetics.

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

E. Zackai, H. Hakonarson, Sarah E. Sheppard, 2022, European Journal of Human Genetics.

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

F. McKenzie, Mahim Jain, B. Kamien, 2020, American journal of medical genetics. Part A.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

H. Hakonarson, Cecilia Kim, Yiran Guo, 2014, JIMD reports.

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

Dong Li, Chunhua Zhang, Dandan Wang, 2019, European journal of medical genetics.

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

H. Hakonarson, M. Levine, Dong Li, 2017, Bone.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Associations between ADHD and various eating disorders : A Swedish nationwide population study using multiple genetically informative approaches

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019 .

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

I. Krantz, H. Hakonarson, D. Slater, 2023, JCI insight.

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

W. Sheng, Dong Li, Chun-quan Cai, 2022, Frontiers in Pediatrics.

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Cecilia Kim, 2015, American journal of medical genetics. Part A.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

H. Hakonarson, Yiran Guo, Sijie He, 2015, Clinical & experimental ophthalmology.

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

R. Pfundt, H. Ropers, P. Jayakar, 2021, HGG advances.

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

H. Hakonarson, F. McKenzie, Dave Tang, 2017, International Journal of Pediatric Endocrinology.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

F. Alkuraya, P. Blackburn, M. Schultz, 2020, Annals of clinical and translational neurology.

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2019, Front. Genet..

Genomic profiling informs diagnoses and treatment in vascular anomalies

H. Hakonarson, J. Treat, C. Seiler, 2023, Nature Medicine.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

Expanding the phenotypic spectrum of ARCN1-related syndrome.

H. Hakonarson, V. Shashi, B. Krock, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2023, Journal of Hepatology.

Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, Biological Psychiatry.

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders

Dong Li, Feiyu Zhou, Chun-quan Cai, 2023, American journal of medical genetics. Part A.

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

Hunna J. Watson, I. Ntalla, E. Zeggini, 2016, bioRxiv.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

E. Zackai, M. Deardorff, A. Wilkens, 2023, American journal of medical genetics. Part A.

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

H. Hakonarson, Sarah E. Sheppard, T. Drivas, 2023, American journal of medical genetics. Part A.

Peiyuan Zhang, Dong Li, Qing Li, 2021, Frontiers in Pediatrics.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Marni J. Falk, H. Hakonarson, R. Chiavacci, 2016, American journal of human genetics.

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

Hunna J. Watson, Sarah M. Hartz, I. Ntalla, 2020, Addiction biology.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.