M. Nowaczyk

发表

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.

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.

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.

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.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

The atypical response regulator HP1021 controls formation of the Helicobacter pylori replication initiation complex

M. Nowaczyk, J. Zakrzewska‐Czerwińska, P. Jaworski, 2015, Molecular microbiology.

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.

The Role of the N-Terminal Domains of Bacterial Initiator DnaA in the Assembly and Regulation of the Bacterial Replication Initiation Complex

M. Nowaczyk, J. Zakrzewska‐Czerwińska, A. Zawilak-Pawlik, 2017, Genes.

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.

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.

Half As Sad: A Plea for Narrative Medicine in Pediatric Residency Training

M. Nowaczyk, C. Diorio, 2018, Pediatrics.

Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype: a new entity?

M. Nowaczyk, 2011, Clinical dysmorphology.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

H. Stassen, W. Hofmann, M. Nowaczyk, 2010, Nucleus.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro

H. Stassen, W. Hofmann, M. Nowaczyk, 2010 .

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

D. Earl, F. Quintero-Rivera, M. Nowaczyk, 2021, Human genetics.

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

M. Nowaczyk, E. De Baere, H. Verdin, 2012, Clinical dysmorphology.

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

S. Scherer, M. Nowaczyk, J. Woulfe, 2000, Clinical genetics.

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.

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.

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

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

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.

M. Nowaczyk, R. Kelley, L. Kratz, 2000, American journal of medical genetics.

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

C. Maslen, M. Nowaczyk, R. Steiner, 2000, American journal of medical genetics.

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

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

The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

M. Nowaczyk, J. Waye, M. Nowaczyk, 2001, Clinical genetics.

SMARCAL1 deficiency predisposes to non‐Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo

R. Weksberg, M. Shago, C. Boerkoel, 2012, American journal of medical genetics. Part A.

Normal IQ is possible in Smith‐Lemli‐Opitz syndrome

M. Nowaczyk, R. Steiner, E. Tierney, 2017, American journal of medical genetics. Part A.

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

D. Chitayat, M. Nowaczyk, A. Feigenbaum, 1996, American journal of medical genetics.

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.

Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.

M. Nowaczyk, E. McCready, Boey S. Ho, 2016, Clinical dysmorphology.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

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.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.

Rosemary M. L. Tan, M. Nowaczyk, L. Fisher, 1998, Metabolism: clinical and experimental.

Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers.

M. Nowaczyk, R. Steiner, G. Turecki, 2004, The American journal of psychiatry.

De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion.

M. Nowaczyk, B. Paes, D. Tomkins, 1999, American journal of medical 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.

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.

Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome

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

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

M. Nowaczyk, S. Longstaffe, B. Eng, 2002, 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.

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.

Germline mosaicism in Cornelia de Lange syndrome

I. Krantz, T. Slavin, M. Nowaczyk, 2012, American journal of medical genetics. Part A.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

P. Stankiewicz, Ankita Patel, S. Cheung, 2011, European Journal of Human Genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

Glaucoma as an early complication of Hurler's disease.

M. Nowaczyk, J. Morin, J. Clarke, 1988, Archives of disease in childhood.

Hirschsprung disease, postaxial polydactyly, and atrial septal defect.

M. Nowaczyk, R. Superina, J. Siegel‐Bartelt, 1997, American journal of medical genetics.

Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions.

M. Nowaczyk, J. Clarke, I. Teshima, 1997, American journal of medical 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.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

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 7 q 31 That Involves FOXP 2

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

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Tomas W. Fitzgerald, D. J. Driscoll, N. Carter, 2009, American journal of human genetics.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

M. Nowaczyk, A. Lehman, B. Maranda, 2016, JCI insight.

Human Chromosome 7: DNA Sequence and Biology

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

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

M. Nowaczyk, Chumei Li, D. Abdelgadir, 2013, American journal of medical genetics. Part A.

Central nervous system malformations in ethylmalonic encephalopathy.

M. Nowaczyk, S. Blaser, J. Clarke, 1998, American journal of medical genetics.

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.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

S. Scherer, C. Cytrynbaum, C. Marshall, 2018, Journal of Medical Genetics.

Smith-Lemli-Opitz Syndrome

M. Nowaczyk, C. Wassif, 2013 .

Prenatal and Pathologic Features of Aorto-Left Ventricular Tunnel Causing Fetal Hydrops and Intrauterine Demise

M. Nowaczyk, J. Terry, M. Tapas, 2013, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy.

M. Nowaczyk, S. Blaser, I. Tein, 1997, The Journal of pediatrics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

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.

Acute renal vein thrombosis, oral contraceptive use, and hyperhomocysteinemia.

J. Douketis, M. Nowaczyk, H. Chan, 2001, Mayo Clinic proceedings.

The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature

M. Nowaczyk, A. Feigenbaum, A. Levin, 2006, Ophthalmic genetics.

Ring chromosome 22 and autism: report and review.

P. Szatmari, M. Nowaczyk, J. MacLean, 2000, American journal of medical genetics.

Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

J. Haddow, G. Palomaki, M. Nowaczyk, 2006, Prenatal diagnosis.

e Renal Vein Thrombosis, Oral Contraceptive Use, and Hyperhomocysteinemia

J. Douketis, M. Nowaczyk, H. Chan, 2001 .

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

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

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

Growth charts for individuals with Smith–Lemli–Opitz syndrome

M. Nowaczyk, J. McGready, F. Porter, 2012, American journal of medical genetics. Part A.

DHCR7 and Smith-Lemli-Opitz syndrome.

M. Nowaczyk, J. Waye, L. Nakamura, 2001, Clinical and investigative medicine. Medecine clinique et experimentale.

Anesthetic considerations in Smith-Lemli-Opitz syndrome

M. Nowaczyk, P. Choi, 2000, Canadian journal of anaesthesia = Journal canadien d'anesthesie.

Anesthetic considera- tions in Smith-Lemli- Opitz syndrome

M. Nowaczyk, P. Choi, 2001 .

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

Hans R Waterham, Y. Lindqvist, H. Waterham, 2002, The Biochemical journal.

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.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, bioRxiv.

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

S. Robertson, M. Nowaczyk, D. Markie, 2020, Genes.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Phenotypic Variability in Fraternal Twins with PEX1 Mutations: Zellweger Syndrome with Discordant Clinical Phenotype

M. Nowaczyk, J. Simons, 2013 .

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

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.

Identification of nine novel DHCR7 missense mutations in patients with Smith‐Lemli‐Opitz syndrome (SLOS)

M. Nowaczyk, F. Porter, C. Wassif, 2005, Human mutation.

Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation

M. Nowaczyk, K. Rauen, J. Terry, 2014, Pediatric and Developmental Pathology.

Ultrasound Assessment of Fetal Chromosomal Abnormalities: A Pictorial Review

M. Nowaczyk, J. Mernagh, P. Mohide, 2001 .