A. Collins

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Large-scale discovery of novel genetic causes of developmental disorders

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

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

A. Collins, D. Bunyan, C. Turner, 2009, American journal of medical genetics. Part A.

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

R. Regan, S. Ennis, J. Crolla, 2011, European Journal of Human Genetics.

Inherited 2q23.1 microdeletions involving the MBD5 locus

A. Collins, D. Josifova, J. Waters, 2017, Molecular genetics & genomic medicine.

Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22.

A. Collins, S. Lindsay, C. Oley, 1995, American journal of medical genetics.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Annette Schenck, Arif B Ekici, André Reis, 2009, American journal of human genetics.

Holoprosencephaly: a family showing dominant inheritance and variable expression.

A. Collins, C. Garrett, P. Lunt, 1993, Journal of medical genetics.

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.

A. Collins, P. Jacobs, A. Cockwell, 1994, Journal of medical genetics.

Three patients with ring (X) chromosomes and a severe phenotype.

J. Crolla, A. Collins, P. Jacobs, 1993, Journal of medical genetics.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Kimberly Burton, Tsuneo Imai, Yan Song, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Phenotypic variability of distal 22q11.2 copy number abnormalities

J. Crolla, A. Collins, Z. Stark, 2011, American journal of medical genetics. Part A.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

B. D. de Vries, A. Collins, J. Barber, 2005, American journal of human genetics.

A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?

A. Collins, N. Dennis, N. Clarke, 1995, Clinical dysmorphology.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

Shuwen Huang, A. Collins, J. Barber, 2011, American journal of medical genetics. Part A.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.

A. Collins, M. Balasubramanian, 2009, European journal of medical genetics.

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

V. P. Johnson, A. Collins, R. Hennekam, 1994, Proceedings of the National Academy of Sciences of the United States of America.

expression . dominant inheritance and variable Holoprosencephaly : a family showing

A. Collins, C. Garrett, P. Lunt, 2022 .

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions

J. Crolla, A. Collins, D. Robinson, 2004, Human Genetics.

Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report.

A. Collins, R. Weller, M. Radford, 1983, Clinical neuropathology.

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 variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, A. Haeringen, 2019, European Journal of Human Genetics.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

S. Robertson, A. Collins, A. Goriely, 2017, Human Mutation.

The 12 q 14 microdeletion syndrome : six new cases confirming the role of HMGA 2 in growth

R. Regan, S. Ennis, J. Crolla, 2011 .

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population‐based data

A. Collins, D. Wellesley, Rose Grover, 2020, Prenatal diagnosis.

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene

A. Collins, N. Cross, T. Brown, 2007, Molecular biotechnology.

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

A. Collins, P. Whittaker, D. Robinson, 1994, Human 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.

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

P. Scambler, A. Collins, F. Goodman, 2002, American journal of human genetics.

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.

Surgical correction of entropion and excess upper eyelid skin in congenital cutis laxa: a case report.

A. Collins, S. Shah-Desai, A. Tyers, 1999, Orbit.

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

A. Collins, J. Barber, D. Hunt, 2020, Cytogenetic and Genome Research.

Okihiro syndrome: thcnar hypoplasia and Duane anomaly in three generations

M. Pembrey, A. Collins, M. Baraitser, 1993, Clinical Dysmorphology.

Further observations on the Floating-Harbor syndrome.

A. Collins, R. Houlston, I. Temple, 1994, Clinical dysmorphology.