N. Leonard

发表

Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation

H. Goez, Krista M Vincent, Alison Eaton, 2021, Clinical genetics.

Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: a comparative study.

R. Sauve, C. Robertson, A. Joffe, 2007, The Journal of thoracic and cardiovascular surgery.

Testicular Mixed Germ Cell Tumor in an Adolescent with Cowden Disease

S. Silverman, N. Leonard, R. Girgis, 2007, Oncology.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Martin W. Breuss, D. Keays, J. Vermeesch, 2015, American journal of human genetics.

Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: a descriptive analysis.

R. Sauve, C. Robertson, A. Joffe, 2009, The Journal of thoracic and cardiovascular surgery.

Familial Recurrence of Cerebral Palsy with Multiple Risk Factors

C. Robertson, N. Leonard, A. Chan, 2012, Case reports in pediatrics.

A Novel Deletion in the Thyrotropin Beta-Subunit Gene Identified by Array Comparative Genomic Hybridization Analysis Causes Central Congenital Hypothyroidism in a Boy Originating from Turkey

N. Leonard, R. Couch, Cherise M. Klotz, 2014, Hormone Research in Paediatrics.

Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

N. Leonard, R. Bhargava, K.J. Au Yong, 2014, American Journal of Neuroradiology.

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.

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

K. Gripp, N. Leonard, D. Stabley, 2012, American journal of medical genetics. Part A.

Prevalence of Childhood Permanent Hearing Loss after Early Complex Cardiac Surgery

C. Robertson, N. Leonard, Charlotte M Douglas, 2018, The Journal of pediatrics.

Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat

N. Leonard, N. Demianczuk, D. Tomkins, 2000, Prenatal diagnosis.

Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

N. Leonard, R. Bhargava, D. Sinclair, 2002, Pediatric neurology.

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

N. Leonard, K. Aziz, Linda Mahgoub, 2014, American Journal of Perinatology Reports.

Terminal deletion of chromosome 10q at band 26.1: follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy.

N. Leonard, C. Lin, F. Harley, 1999, American journal of medical genetics.

Mutations in the telomere capping complex in bone marrow failure and related syndromes

T. Vulliamy, I. Desguerre, N. Leonard, 2013, Haematologica.

High prevalence of sensorineural hearing loss among survivors of neonatal congenital diaphragmatic hernia. Western Canadian ECMO Follow-up Group.

C. Robertson, N. Leonard, P. Cheung, 1998, The American journal of otology.

Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

K. Gripp, A. Innes, J. Parboosingh, 2008, American journal of medical genetics. Part A.

A duplication of the mouth associated with a dysontogenic cyst: a case report and discussion of theories of origin.

N. Leonard, A. Isaac, H. El-Hakim, 2014, JAMA otolaryngology-- head & neck surgery.

Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy

R. Lemmers, N. Leonard, H. Kolski, 2008, Muscle & nerve.

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

S. Mundlos, M. Spielmann, P. Krawitz, 2017, Journal of Medical Genetics.

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene

N. Leonard, E. Rosolowsky, R. Stein, 2015, Journal of Pediatric Endocrinology & Metabolism (JPEM).

Periventricular Cysts, Developmental Impairment in a 9q21.13q21.32 Microdeletion, and a Review of the Literature

H. Goez, N. Leonard, J. Mailo, 2016, Journal of Pediatric Neurology.

The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome

Stacey Hume, O. Caluseriu, N. Leonard, 2019, Human mutation.