K. Lachlan

发表

Disruption of the TFAP2A Regulatory Domain Causes Banchio-Oculo-Facial Syndrome (BOFS) and Illuminates Pathomechanisms for Other Human Neurocristopathies

J. Baptista, Á. Rada-Iglesias, M. Laugsch, 2018 .

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Hereditary Hyperferritinemia Cataract Syndrome: Ocular, Genetic, and Biochemical Findings

I. Temple, K. Lachlan, A. Mumford, 2006, European journal of ophthalmology.

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

Sikandar G. Khan, K. Lachlan, A. Lehmann, 2006, Human mutation.

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Robert Huether, Rachid Karam, Charis Eng, 2018, Human mutation.

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, Nature Communications.

Primrose syndrome: Characterization of the phenotype in 42 patients

R. Hennekam, B. Gener, C. Turnbull, 2020, Clinical genetics.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

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 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

D. Baralle, F. Muntoni, S. Al-Sarraj, 2011, Neuromuscular Disorders.

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, bioRxiv.

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

K. Lachlan, M. Tischkowitz, W. Macken, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

K. Lachlan, M. Lees, J. Juusola, 2020, American journal of medical genetics. Part A.

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

K. Lachlan, 2013, Journal of the National Cancer Institute.

Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

J. R. Wilson, David M. Holden, P. W. Foster, 2016, British Journal of Cancer.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

S. Twigg, A. Wilkie, H. Stewart, 2021, Human mutation.

Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

I. Temple, K. Lachlan, A. Lucassen, 2007, Journal of Medical Genetics.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

K. Lachlan, R. Gilbert, P. Sukhtankar, 2013, Pediatric Nephrology.

Homozygous mutation in ELMO2 may cause Ramon syndrome

A. Hoischen, H. Brunner, A. Mégarbané, 2018, Clinical genetics.

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

I. Temple, K. Lachlan, A. Mumford, 2004, European Journal of Human Genetics.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

J. Rosenfeld, J. Barber, J. Graham, 2015, American journal of medical genetics. Part A.

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

R. G. C. C. L. Cardenas, B. Dallapiccola, K. Lachlan, 2016, Genetics and molecular biology.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A. Fry, K. Lachlan, R. Newbury-Ecob, 2020, American journal of medical genetics. Part A.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome

K. Lachlan, P. Turnpenny, F. V. van Dijk, 2019, American journal of medical genetics. Part A.

MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

J. Tolmie, K. Lachlan, B. Kerr, 2013, Clinical genetics.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

Adam P. DeLuca, Corey W. Goodman, Bruce W. Tompkins, 2011, Human mutation.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

R. Holt, P. Calvas, N. Chassaing, 2018, Human Genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

N. S. Thomas, P. Jacobs, K. Lachlan, 2005, Human Genetics.

Haematological chimerism masquerading as disorder of sex development

K. Lachlan, S. Sakka, J. Davies, 2020, Clinical endocrinology.

Changes Over Time in Sex Assignment for Disorders of Sex Development

K. Lachlan, F. Darendeliler, A. Nordenström, 2014, Pediatrics.

Gonadectomy In Conditions Affecting Sex Development - A Registry-Based Cohort Study.

K. Lachlan, S. Poyrazoglu, F. Darendeliler, 2021, European journal of endocrinology.

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Shuwen Huang, C. Mercer, N. S. Thomas, 2013, European journal of medical genetics.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.

J. Baptista, Á. Rada-Iglesias, M. Laugsch, 2019, Cell stem cell.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, 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 .

Functional disomy resulting from duplications of distal Xq in four unrelated patients

R. Sandford, N. S. Thomas, P. Jacobs, 2004, Human Genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

Shuwen Huang, V. Maloney, N. S. Thomas, 2009, Human Genetics.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

B. Weschke, M. Verbeek, G. Mancini, 2010, Brain : a journal of neurology.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

J. Levy, A. Gloyn, F. Karpe, 2012, The New England journal of medicine.

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

E. Seaby, K. Lachlan, S. Ennis, 2016, Journal of Medical Genetics.

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

V. Maloney, J. Barber, K. Lachlan, 2005, European Journal of Human Genetics.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

A. Bayat, H. Stewart, K. Lachlan, 2020, American journal of medical genetics. Part A.

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

K. Lachlan, A. Lotery, A. Taylor, 2012, Journal of Clinical Neuroscience.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Luciana Rodrigues da Silva, R. Holt, P. Calvas, 2018, Human 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.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

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.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Amniotic bands in paternal half-siblings

K. Lachlan, M. Blyth, 2010, Clinical dysmorphology.

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

K. Lachlan, R. González-Sarmiento, Cintia E. Citterio, 2013, Molecular and Cellular Endocrinology.

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

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

Autism, language and communication in children with sex chromosome trisomies

Dorothy V M Bishop, Angela Barnicoat, Kate Nation, 2010, Archives of Disease in Childhood.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

J. Clayton-Smith, K. Lachlan, J. Morton, 2019, Clinical 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.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

R. G. C. C. L. Cardenas, B. Dallapiccola, K. Lachlan, 2016, Genetics and molecular biology.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Shuwen Huang, V. Maloney, A. Collins, 2018, American journal of medical genetics. Part A.

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

K. Lachlan, R. González-Sarmiento, J. Weill, 2022, Endocrine.

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

S. Ferdinandusse, H. Waterham, R. Wanders, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

D. Baralle, S. Mansour, K. Lachlan, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

A. Kolevzon, E. Loth, J. Beekhuyzen, 2023, American journal of medical genetics. Part A.

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.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

K. Lachlan, M. Parker, S. Sharif, 2019, American journal of medical genetics. Part A.

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

D. Baralle, F. Muntoni, S. Al-Sarraj, 2011, Neuromuscular Disorders.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

K. Lachlan, R. Newbury-Ecob, H. N. Hall, 2023, Journal of Medical Genetics.

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

D. Koboldt, P. Sulem, A. O’Donnell-Luria, 2023, medRxiv.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes

A. Kolevzon, E. Loth, F. Shic, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.