A. Nicholas

发表

Transcriptional regulator PRDM12 is essential for human pain perception

David L. Bennett, Andreas C. Themistocleous, I. Katona, 2015, Nature Genetics.

Two novel SCN9A mutations causing insensitivity to pain

S. Mellgren, J. Aasly, A. Nicholas, 2009, Pain.

A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Yonatan Yeshayahu, A. Nicholas, N. Schoenmakers, 2019, Journal of clinical research in pediatric endocrinology.

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.

C. Anderson, M. Ojaniemi, J. Kero, 2018, JCI insight.

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

C. Woods, H. Houlden, L. Al-Gazali, 2010, Journal of Medical Genetics.

JMEDGENET81455 1..5

H. Houlden, L. Al-Gazali, J. Cox, 2022 .

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Soo-Mi Park, C. Anderson, M. Dattani, 2016, The Journal of clinical endocrinology and metabolism.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

C. Bacchelli, F. Moretti, K. Pearce, 2017, The Journal of allergy and clinical immunology.

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

M. Dattani, O. Koulouri, M. Gurnell, 2018, Clinical endocrinology.

mutation in a large Irish kindred highlights the need for familial 1 screening in the IGSF 1 deficiency syndrome 2

M. Dattani, O. Koulouri, M. Gurnell, 2018 .

Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations

C. Woods, F. Reimann, E. Manor, 2010, Human mutation.

WDR62 is associated with the spindle pole and is mutated in human microcephaly

C. Woods, F. Gergely, S. Lindsay, 2010, Nature Genetics.

An SCN9A channelopathy causes congenital inability to experience pain

Hussain Jafri, Emma Roberts, Enza Maria Valente, 2006, Nature.

Critical consequences of finding three pathogenic mutations in an individual with recessive disease

A. Nicholas, G. Thornton, H. Martin, 2010, Journal of Medical Genetics.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

A Primary Microcephaly Protein Complex forms a ring around parental centrioles

C. Woods, F. Gergely, A. Barr, 2011, Nature Genetics.

Novel Insights from Clinical Practice / Case Report

A. Nicholas, N. Schoenmakers, J. Barton, 2020 .

The molecular landscape of ASPM mutations in primary microcephaly

M. Fichera, C. Romano, C. Woods, 2008, Journal of Medical Genetics.

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation

Soo-Mi Park, P. Vasudevan, A. Nicholas, 2017, Endocrinology, diabetes & metabolism case reports.

Novel SCN9A Mutations Underlying Extreme Pain Phenotypes: Unexpected Electrophysiological and Clinical Phenotype Correlations

C. Woods, A. M. Habib, F. Reimann, 2015, The Journal of Neuroscience.

Novel Insights from Clinical Practice

A. Nicholas, N. Schoenmakers, J. Barton, 2011 .

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

C. Woods, M. Crosier, Tanyeri Barak, 2011, American journal of human genetics.

Cervical cell lift: A novel triage method for the spatial mapping and grading of precancerous cervical lesions

P. Sasieni, R. Crawford, J. Doorbar, 2022, EBioMedicine.

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

M. Kocova, A. Nicholas, N. Schoenmakers, 2020, Frontiers in Endocrinology.

Absence of pain with hyperhidrosis: A new syndrome where vascular afferents may mediate cutaneous sensation

F. Rice, D. Bowsher, D. Crooks, 2009, PAIN®.

DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

N. Sebire, M. Muzza, L. Fugazzola, 2019, Thyroid : official journal of the American Thyroid Association.

Two novel SCN9A mutations causing insensitivity to pain

S. Mellgren, J. Aasly, A. Nicholas, 2009, Pain.

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

C. Woods, M. Crosier, Tanyeri Barak, 2011, American journal of human genetics.

A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Yonatan Yeshayahu, A. Nicholas, N. Schoenmakers, 2021, Journal of Clinical Research in Pediatric Endocrinology.

Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction

A. Nicholas, N. Schoenmakers, J. Barton, 2019, Hormone Research in Paediatrics.