Publications by authors named "John A Crolla"

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Newton E. Morton (1929-2018).
Stephanie L Sherman, D C Rao, Bronya J Keats, Shirley Yee, M Anne Spence, John A Crolla

Am J Hum Genet· June 2018

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De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?
Marie T Greally, Eve Robinson, Nicholas M Allen, Donough O'Donovan, John A Crolla

Am J Med Genet A· December 2014

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Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing.
Jonathan L A Callaway, Shuwen Huang, Evangelia Karampetsou, John A Crolla

Mol Biotechnol· April 2014

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Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
John A Crolla, Ronald Wapner, Jan M M Van Lith

Prenat Diagn· January 2014

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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla

Prenat Diagn· December 2013

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
John C K Barber, Jill A Rosenfeld, Nicola Foulds, Sophie Laird, Mark S Bateman, John A Crolla

Am J Med Genet A· March 2013

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Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.
Helen E White, Carolyn L Dent, Victoria J Hall, John A Crolla, Lyn S Chitty

PLoS One· February 2013

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Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?
M White, J Conroy, H Bullman, M Lever, E Daly, John A Crolla

Case Rep Genet· February 2013

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The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome.
Shakeel M Rahman, Nigel J Hall, John A Crolla, David O Robinson, Michael P Stanton

Eur J Pediatr Surg· April 2012

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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Beata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, Birgit Sikkema-Raddatz, John A Crolla

Eur J Hum Genet· February 2012

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De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.
Charlene Sibbons, Joan K Morris, John A Crolla, Patricia A Jacobs, N Simon Thomas

Eur J Hum Genet· February 2012

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, John A Crolla

Genet Med· September 2011

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Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, John A Crolla

Am J Med Genet A· July 2011

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Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome.
Swati Naik, Elliott Riordan-Eva, N Simon Thomas, Rebecca Poole, Mark Ashton, John A Crolla

Eur J Med Genet· June 2011

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L Collins, Göran Annerén, John A Crolla

Eur J Hum Genet· May 2011

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Clinical utility gene card for: WAGR syndrome.
Carol Clericuzio, Melanie Hingorani, John A Crolla, Veronica van Heyningen, Alain Verloes

Eur J Hum Genet· April 2011

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Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
Morag Collinson, Samantha J Leonard, Jocelyn Charlton, John A Crolla, Caroline Silve

Am J Med Genet A· December 2010

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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Daniel Moreno-De-Luca, , Jennifer G Mulle, , Erin B Kaminsky, John A Crolla

Am J Hum Genet· November 2010

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A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.
Ana Cristina V Krepischi, Carla Rosenberg, Silvia S Costa, John A Crolla, Shuwen Huang

Am J Med Genet A· September 2010

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Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
Jill A Rosenfeld, John A Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow

Am J Med Genet A· August 2010

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Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting.
Rebecca L Poole, Emma Baple, John A Crolla, I Karen Temple, Deborah J G Mackay

Am J Med Genet A· August 2010

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, John A Crolla

Am J Hum Genet· May 2010

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De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
N Simon Thomas, Joan K Morris, Julia Baptista, Bee Ling Ng, John A Crolla

J Med Genet· February 2010

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15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Katrina Tatton-Brown, Daniela T Pilz, Karen Helene Orstavik, Michael Patton, John C K Barber, John A Crolla

Am J Med Genet A· February 2009

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