C. Schwartz

发表

Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

L. Colleaux, M. May, M. Fontès, 1996, Journal of Medical Genetics.

A novel mutation in the PHF8 gene is associated with X‐linked mental retardation with cleft lip/cleft palate

M. Miano, C. Schwartz, Fethia Abidi, 2007, Clinical genetics.

Expanding the phenotypic spectrum of L1CAM‐associated disease

M. Shohat, L. Basel‐Vanagaite, R. Straussberg, 2006, Clinical genetics.

A missense mutation, p.V132G, in the X‐linked spermine synthase gene (SMS) causes Snyder–Robinson syndrome

J. Śanchez-Corona, J. García-Ortiz, D E McCloskey, 2009, American journal of medical genetics. Part A.

Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region.

M. May, R. S. Wilroy, S. Huston, 1997, American journal of medical genetics.

Nonsyndromic X‐linked mental retardation: review and mapping of MRX29 to Xp21

R. Stevenson, H. Lubs, R. Schroer, 1996, Clinical genetics.

The Hunter–McAlpine syndrome results from duplication 5q35–qter

E. Haan, L. Hinton, L. Adès, 2004, Clinical genetics.

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

G. Neri, M. May, G. Gillessen‐kaesbach, 2000, European Journal of Human Genetics.

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21

Rebekah K. Stevenson, F. Gurrieri, R. Fischetto, 2001, Clinical genetics.

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

C. Moyes, C. Schwartz, J. Jones, 2010, Clinical genetics.

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

R. Nussbaum, A. Aylsworth, L. Colleaux, 1995, Human molecular genetics.

The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome

A. Need, V. Shashi, K. Schoch, 2015, Clinical Genetics.

Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c.109C>T (p.R37X)

M. King, C. Skinner, R. Stevenson, 2015, Clinical genetics.

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

Rebekah K. Stevenson, R. Stevenson, C. Schwartz, 2007, Clinical genetics.

Non‐syndromic X‐linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

R R Lebel, Rebekah K. Stevenson, H A Lubs, 2002, Clinical genetics.

Cognitive function in Coffin–Lowry syndrome

Rebekah K. Stevenson, F. Abidi, C. Schwartz, 2002, Clinical genetics.

Pitt–Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR‐X phenotype

C. Schwartz, W. Tan, M. Irons, 2011, Clinical genetics.