H. Goel

发表

NMNAT1 variants cause cone and cone-rod dystrophy

M. Dinger, B. Bennetts, Benjamin M. Nash, 2018, European 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.

Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation

Victoria E. Jackson, I. Scheffer, J. Gécz, 2020, Neurology.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

S. Fisher, F. Liégeois, A. Morgan, 2022, Journal of Medical Genetics.

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Victoria E. Jackson, I. Scheffer, S. Fisher, 2022, Molecular Psychiatry.

ACTN3 : Athlete gene prevalence in North India

B. Mittal, H. Goel, 2007 .

Organic anion transporter protein (OATP1B1) encoded by SLCO1B1 gene polymorphism (388A>G) & susceptibility in gallstone disease.

B. Mittal, Charulata Jindal, H. Goel, 2009, The Indian journal of medical research.

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

H. Goel, M. McPhillips, A. Ziolkowski, 2020, American journal of medical genetics. Part A.

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

A. Brusco, G. Mandrile, D. Giachino, 2016, The Cerebellum.

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

R. Scott, M. Digilio, C. Meldrum, 2015, European journal of medical genetics.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Genetic variants of interleukin‐1RN and interleukin‐1β genes and risk of cervical cancer

B. Mittal, H. Goel, R. Sachan, 2008, BJOG : an international journal of obstetrics and gynaecology.

KBG syndrome: An Australian experience

M. Tekin, T. Roscioli, Meredith Wilson, 2017 .

Expansion of phenotype of DDX3X syndrome: six new cases.

Victoria E. Jackson, A. Morgan, J. Mcgaughran, 2019, Clinical dysmorphology.

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

C. Meldrum, S. O’Donnell, Anupam Rao, 2014, European journal of medical genetics.

Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor

P. Crock, H. Goel, B. Burgess, 2016, American journal of medical genetics. Part A.

L. Pasquier, T. Dudding-Byth, C. Shoubridge, 2022, Clinical genetics.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

I. Scheffer, Anand Vasudevan, K. Oliver, 2022, European Journal of Human Genetics.

A case of White–Sutton syndrome with previously described loss‐of‐function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome

H. Goel, Sameer Dal, Bruce Hopper, 2020, American journal of medical genetics. Part A.

Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation

Victoria E. Jackson, I. Scheffer, J. Gécz, 2019 .

Kawasaki disease: Are we missing the diagnosis ?

R. Lodha, S. Kabra, H. Goel, 2005, Indian journal of pediatrics.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Genome sequencing in congenital cataracts improves diagnostic yield

N. Brown, M. Cowley, M. Dinger, 2021, Human mutation.

Maternal attitudes to newborn screening for fragile X syndrome

J. Boyle, M. Field, J. Hansen, 2013, American journal of medical genetics. Part A.

Unbalanced X; autosome translocation

S. Phadke, N. Gupta, H. Goel, 2006, Indian journal of pediatrics.

Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family

S. Phadke, H. Goel, 2011, Andrologia.

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome

M. Field, V. Cho, B. Whittle, 2015, American journal of medical genetics. Part A.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

D. Skuse, A. McQuillin, N. Bass, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Intrafamilial variability in Fraser syndrome

H. Goel, P. Prasun, M. Pradhan, 2007, Prenatal diagnosis.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Severe speech impairment is a distinguishing feature of FOXP1‐related disorder

I. Scheffer, H. Mefford, S. Fisher, 2021, Developmental medicine and child neurology.

Speech, Language, and Oromotor Skills in Patients With Polymicrogyria

I. Scheffer, A. Morgan, C. Stutterd, 2021, Neurology.

Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility.

H. Goel, T. Dudding, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction

M. Kamm, G. Ravenscroft, N. Laing, 2018, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

D. Nickerson, M. Bamshad, R. Roepman, 2017, American journal of human genetics.

Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences

H. Goel, Peter Davies, D. Katiyar, 2020, Ophthalmic genetics.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Phylogenetic Applications of HLA Class II Loci

S. Agrawal, H. Goel, Sanjeev Srivastava, 2007 .

Association of pro/anti-inflammatory cytokine gene variants in renal transplant patients with allograft outcome and cyclosporine immunosuppressant levels

Rama Devi Mittal, R. D. Mittal, H. Goel, 2008, Biologics : targets & therapy.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

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.

A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene

C. Fraser, B. Kamien, H. Goel, 2018, Ophthalmic genetics.

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

S. Cooper, H. Goel, A. Bournazos, 2020, European journal of medical genetics.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Yiping Shen, C. Morton, Hyung-Goo Kim, 2023, Research square.

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

N. Okamoto, Toshiyuki Yamamoto, H. Goel, 2017, European journal of medical genetics.

Another case of holoprosencephaly associated with RAD21 loss-of-function variant.

H. Goel, G. Parasivam, 2020, Brain : a journal of neurology.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

L. Bouneau, C. Rooryck, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

P. Harris, A. Ong, A. Mallett, 2020, Kidney international.

Congenital Anomalies Presenting to a Tertiary Neonatal Intensive Care Unit: A Descriptive Study

H. Goel, Dulani Siddhisena, 2018 .

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Manuela Pendziwiat, Y. Weber, I. Helbig, 2022, EBioMedicine.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

Manuela Pendziwiat, Y. Weber, I. Helbig, 2021, bioRxiv.

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

N. de Leeuw, J. Verhoeven, H. Braakman, 2020, Epilepsia Open.

Pediatric mortality due to inborn errors of metabolism in Victoria, Australia: a population-based study.

A. Boneh, H. Goel, Allison Lusher, 2010, JAMA.

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Pedro Rebelo-Guiomar, L. Van Haute, M. Minczuk, 2023, Nature Communications.

Vacuolated lymphocytes–a diagnostic clue

C. Barnes, H. Goel, K. Radhakrishnan, 2010, European journal of haematology.

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Yiping Shen, C. Morton, Hyung-Goo Kim, 2023, Scientific reports.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

KBG syndrome: An Australian experience.

M. Tekin, T. Roscioli, Meredith Wilson, 2017, American journal of medical genetics. Part A.

NMNAT1 variants cause cone and cone-rod dystrophy

M. Dinger, B. Bennetts, Benjamin M. Nash, 2017, European Journal of Human Genetics.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

D. Nickerson, M. Bamshad, R. Roepman, 2017, American journal of human genetics.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

S. Fisher, F. Liégeois, A. Morgan, 2022, Journal of Medical Genetics.

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

R. Pfundt, B. D. de Vries, H. Heussler, 2019, American journal of medical genetics. Part A.

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

M. Digilio, C. Meldrum, B. Kamien, 2015, European journal of medical genetics.