H. Gill

发表

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report

G. Blanchard-Rohner, H. Gill, R. Schreiber, 2021, BMC Pediatrics.

Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography.

J. Simpson, H. Gill, M. Splitt, 2003, Journal of the American College of Cardiology.

Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome.

W. Reardon, H. Gill, L. Michaels, 1999, Clinical otolaryngology and allied sciences.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

consecutive pregnancies evaluated by detailed fetal echocardiography Patterns of recurrence of congenital heart disease: An analysis of 6,640

J. Simpson, H. Gill, M. Splitt, 2008 .

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

C. Boerkoel, M. Demos, H. Gill, 2021, Cold Spring Harbor molecular case studies.

SETD1B-associated neurodevelopmental disorder

Steven J. M. Jones, M. Farrer, C. V. van Karnebeek, 2020, Journal of Medical Genetics.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

Rhabdoid tumor: the Irish experience 1986-2013.

M. O'sullivan, F. Brett, H. Gill, 2014, Cancer genetics.

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart

David I. Wilson, N. Carter, B. Ng, 2009, European Journal of Human Genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

M. Farrer, A. Synnes, H. Osiovich, 2019, European Journal of Pediatrics.

Familial distal foregut atresia in a family with likely autosomal dominant inheritance pattern

H. Gill, R. Hayes, I. Robinson, 2012, Pediatric Surgery International.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

D. Cooper, M. Krawczak, A. Clarke, 2000, Human molecular genetics.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

William B Dobyns, Renske Oegema, A. Green, 2015, Human molecular genetics.

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

T. Arnesen, H. Gill, C. Prada, 2020, European Journal of Human Genetics.

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

C. Ross, W. Wasserman, A. Masotti, 2018, Neuroscience.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

F. Hanefeld, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

J. Goodship, H. Gill, M. Splitt, 2000, American journal of human genetics.

Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation

S. Langlois, H. Gill, R. Rupps, 2019, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Single-Nucleotide Variations, Insertions/Deletions and Copy Number Variations in Myelodysplastic Syndrome during Disease Progression Revealed by a Single-Cell DNA Sequencing Platform

V. Lee, H. Gill, K. Miu, 2022, International journal of molecular sciences.

Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.

H. Gill, S. Lam, L. Chu, 2012, Chinese medical journal.