Małgorzata J. M. Nowaczyk

发表

Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

S. Schwartz, Soma Das, G. Raca, 2008, American journal of medical genetics. Part A.

Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans

F. Porter, C. Wassif, B. Eng, 2003, American journal of medical genetics. Part A.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

I. Krantz, M. Bamshad, C. Morris, 2004, Nature Genetics.

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

M. Shago, A. Teebi, P. Eydoux, 2009, American journal of medical genetics. Part A.

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.

An uncommon 3.4-Mb interstitial deletion at 3q29.

Aneal Khan, H. Naik, Jia-chi Wang, 2010, Clinical dysmorphology.

A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene

M. Tarnopolsky, Lijia Huang, K. Boycott, 2017, American journal of medical genetics. Part A.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology

M. Nowaczyk, M. Irons, Małgorzata J. M. Nowaczyk, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

I. Krantz, M. Deardorff, L. Jackson, 2012, American journal of medical genetics. Part A.

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

M. Nowaczyk, A. Summers, D. Cox, 2005, American journal of medical genetics. Part A.

De novo 1q32q44 duplication and distal 1q trisomy syndrome

J. Squire, J. Bayani, V. Freeman, 2003, 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.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

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.

Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome

M. Nowaczyk, B. Eng, J. Waye, 2003, American journal of medical genetics. Part A.

Reply to correspondence from Martínez‐Frías et al.—“Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada”

F. Porter, D. Whelan, D. McCaughey, 2001, American journal of medical genetics.

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

Jia-chi Wang, I. Teshima, Małgorzata J. M. Nowaczyk, 2009, American journal of medical genetics. Part A.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, A. Beck, 2021, 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.

Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene

M. Tarnopolsky, B. Eng, J. Waye, 2004, American journal of medical genetics. Part A.

Narrative medicine in clinical genetics practice

Małgorzata J. M. Nowaczyk, 2012, 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.

Founder effect for the T93M DHCR7 mutation in Smith‐Lemli‐Opitz syndrome

M. Nowaczyk, B. Eng, J. Waye, 2004, American journal of medical genetics. Part A.

Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype

J. Allanson, J. Hamid, Małgorzata J. M. Nowaczyk, 2012, American journal of medical genetics. Part A.

Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis

B. Eng, J. Waye, Małgorzata J. M. Nowaczyk, 2007, Prenatal diagnosis.

DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?

J. Douketis, J. Waye, Małgorzata J. M. Nowaczyk, 2006, American journal of medical genetics. Part A.

Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction

C. Cunniff, Małgorzata J. M. Nowaczyk, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome

S. Langlois, B. Eng, J. Waye, 2007, American journal of medical genetics. Part A.

Epiphyseal stippling is not a feature of 7‐dehydrocholesterol reductase deficiency (Smith‐Lemli‐Opitz syndrome)

Małgorzata J. M. Nowaczyk, 2011, American journal of medical genetics. Part A.

Plasma measurement of 7‐dehydrocholesterol to detect carriers of Smith–Lemli–Opitz syndrome

M. Nowaczyk, Małgorzata J. M. Nowaczyk, 2000, Prenatal diagnosis.

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

J. Shendure, J. Rosenfeld, B. V. van Bon, 2012, Nature Genetics.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome

A. Jezela-Stanek, G. Utermann, M. Witsch-Baumgartner, 2004, Clinical genetics.

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

M. Nowaczyk, V. Siu, F. Porter, 2001, American journal of medical genetics.

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

M. Nowaczyk, F. Porter, J. Waye, 2001, American journal of medical genetics.

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.

M. Nowaczyk, F. Porter, B. Eng, 2001, American journal of medical genetics.

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

A. Feigenbaum, B. Eng, J. Waye, 2001, American journal of medical genetics.

Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies

A. Jezela-Stanek, E. Ciara, E. Popowska, 2005, Clinical genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, Ankita Patel, J. Lupski, 2005, Journal of Medical Genetics.

Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome.

M. Nowaczyk, B. Eng, J. Waye, 2001, American journal of medical genetics.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.