S. Zeesman

发表

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

A. Hoischen, H. Peeters, E. Eichler, 2014, Genetics in Medicine.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

S. Seneca, H. Mandel, L. de Meirleir, 2003, Human mutation.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

S. Scherer, A. C. Lionel, C. Marshall, 2016, Genetics in Medicine.

A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.

C. Scriver, L. Cartier, S. Zeesman, 1984, American journal of medical genetics.

Ovarian failure related to eukaryotic initiation factor 2B mutations.

R. Schiffmann, D. Rodriguez, O. Boespflug-Tanguy, 2003, American journal of human genetics.

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification

M. Nowaczyk, S. Zeesman, S. Feather, 2003, American journal of medical genetics. Part A.

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

Sherryl A. M. Taylor, M. Nowaczyk, S. Taylor, 2004, American journal of medical genetics. Part A.

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44

M. Tarnopolsky, M. Nowaczyk, S. Zeesman, 2013, American journal of medical genetics. Part A.

Folic acid blinded trial in identical twins with fragile X syndrome.

E. Andermann, M. Vekemans, D. Rosenblatt, 1985, American journal of human genetics.

Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance.

J. Douketis, M. Nowaczyk, J. Waye, 2004, The Journal of pediatrics.

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

M. Nowaczyk, N. Leonard, M. Speevak, 2013, American journal of medical genetics. Part A.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Wendy Roberts, Juha Kere, Lars Feuk, 2006, American journal of human genetics.

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

Jessica Brian, Wendy Roberts, Lars Feuk, 2006, American journal of medical genetics. Part A.

Speech and Language Impairment and Oromotor Dyspraxia Due to Deletion of 7 q 31 That Involves FOXP 2

Stephen W. Scherer, Lucy R. Osborne, Jessica Brian, 2006 .

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Autosomal recessive Duane's retraction syndrome.

S. Zeesman, M. Discepola, R. Polomeno, 1987, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis

S. Topper, D. del Gaudio, K. Arndt, 2016, Clinical genetics.

Paternal transmission of fragile X syndrome

L. Zwaigenbaum, Sherryl A. M. Taylor, F. Tassone, 2004, American journal of medical genetics. Part A.

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

S. Kjaergaard, M. Kirchhoff, S. Zeesman, 2012, American journal of medical genetics. Part A.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

J. Rosenfeld, J. Beckmann, J. Hirschhorn, 2013, American journal of human genetics.

Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.

N. Carson, S. Zeesman, D. Whelan, 2002, American journal of medical genetics.

Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making.

T. Stockley, P. Ray, T. Prior, 2002, American journal of medical genetics.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

P. Sanchez-Lara, J. Hoover-Fong, K. Rauen, 2014, Clinical genetics.

Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

M. Nowaczyk, B. Sadikovic, S. Zeesman, 2015, American journal of medical genetics. Part A.

Distal deletion of chromosome 1q in an adult.

P. Kaplan, M. Vekemans, S. Zeesman, 1990, American journal of medical genetics.

Pregnancy in a healthy woman with untreated citrullinemia

T. Saheki, Keiko Kobayashi, S. Zeesman, 2004, American journal of medical genetics. Part A.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Norrie's disease in a French-Canadian kindred: attempt to detect carriers by DNA analysis.

S. Zeesman, R. Polomeno, P. Kaplan, 1987, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.