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1

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

Nikkel, Sarah M.

Journal:

Current Osteoporosis Reports

Year:

2017

Language:

english

File:

PDF, 587 KB

english, 2017

2

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

Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J, Afenjar, Alexandra, Albrecht, Beate, Allanson, J

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 5.33 MB

english, 2013

3

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Digby, Elizabeth L., Liauw, Jessica, Dionne, Janis, Langlois, Sylvie, Nikkel, Sarah M.

Journal:

Prenatal Diagnosis

Year:

2021

File:

PDF, 379 KB

2021

4

Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

Chitra Prasad, Sandra Marles, Asuri N. Prasad, Sarah Nikkel, Sally Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S. Waye, Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 229 KB

english, 2002

5

Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome

Alain Verloes, Pierre Bitoun, Anne Heuskin, Dina Amrom, Hilde Van de Broeck, Sarah M. Nikkel, Albert E. Chudley, Asuri N. Prasad, Cristina Rusu, Mircea Covic, Annick Toutain, Claude Moraine, Melissa A

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 283 KB

english, 2004

6

Mutations in GDF5 presenting as semidominant brachydactyly A1

Ashley M. Byrnes, Lemuel Racacho, Sarah M. Nikkel, Fengxia Xiao, Heather MacDonald, T. Michael Underhill, Dennis E. Bulman

Journal:

Year:

2010

Language:

english

File:

PDF, 222 KB

english, 2010

7

A century later Farabee has his mutation

M. Elizabeth McCready, Allison Grimsey, Timothy Styer, Sarah M. Nikkel, Dennis E. Bulman

Journal:

Year:

2005

File:

PDF, 3 KB

2005

8

A century later Farabee has his mutation

M. Elizabeth McCready, Allison Grimsey, Timothy Styer, Sarah M. Nikkel, Dennis E. Bulman

Journal:

Year:

2007

Language:

english

File:

PDF, 158 KB

english, 2007

9

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

Eric M. Jackson, Tamim H. Shaikh, Sridharan Gururangan, Marilyn C. Jones, David Malkin, Sarah M. Nikkel, Craig W. Zuppan, Luanne M. Wainwright, Fan Zhang, Jaclyn A. Biegel

Journal:

Year:

2007

Language:

english

File:

PDF, 471 KB

english, 2007

10

Deficits in Eye Movement Control in Children With Fetal Alcohol Spectrum Disorders

Courtney R. Green, Douglas P. Munoz, Sarah M. Nikkel, James N. Reynolds

Journal:

Alcoholism: Clinical and Experimental Research

Year:

2007

Language:

english

File:

PDF, 198 KB

english, 2007

11

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Byrnes, Ashley M, Racacho, Lemuel, Grimsey, Allison, Hudgins, Louanne, Kwan, Andrea C, Sangalli, Michel, Kidd, Alexa, Yaron, Yuval, Lau, Yu-Lung, Nikkel, Sarah M

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 340 KB

english, 2009

12

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthyl

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.08 MB

english, 2012

13

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Ekkehart Lausch, Pia Hermanns, Henner F. Farin, Yasemin Alanay, Sheila Unger, Sarah Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen Spranger, Bernhard Zabel, Andreas Kispert, Andrea Superti-Furga

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 615 KB

english, 2008

14

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.10 MB

english, 2009

15

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

File:

PDF, 145 KB

2009

16

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Małgorzata J.M. Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S. Moilanen, Didier Lac

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 440 KB

english, 2012

17

Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis

Lynch, Danielle C., Dyment, David A., Huang, Lijia, Nikkel, Sarah M., Lacombe, Didier, Campeau, Philippe M., Lee, Brendan, Bacino, Carlos A., Michaud, Jacques L., Bernier, Francois P., Consortium, FOR

Journal:

Year:

2013

Language:

english

File:

PDF, 296 KB

english, 2013

18

Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder

Paolozza, Angelina, Rasmussen, Carmen, Pei, Jacqueline, Hanlon-Dearman, Ana, Nikkel, Sarah M., Andrew, Gail, McFarlane, Audrey, Samdup, Dawa, Reynolds, James N.

Journal:

Behavioural Brain Research

Year:

2014

Language:

english

File:

PDF, 935 KB

english, 2014

19

Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure

Paolozza, Angelina, Rasmussen, Carmen, Pei, Jacqueline, Hanlon-Dearman, Ana, Nikkel, Sarah M., Andrew, Gail, McFarlane, Audrey, Samdup, Dawa, Reynolds, James N.

Journal:

Behavioural Brain Research

Year:

2014

Language:

english

File:

PDF, 825 KB

english, 2014

20

Growth and development in thanatophoric dysplasia - an update 25 years later

Nikkel, Sarah M., Major, Nathalie, King, W. James.

Journal:

Clinical Case Reports

Year:

2013

Language:

english

File:

PDF, 276 KB

english, 2013

21

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

Lynch, Danielle C., Dyment, David A., Huang, Lijia, Nikkel, Sarah M., Lacombe, Didier, Campeau, Philippe M., Lee, Brendan, Bacino, Carlos A., Michaud, Jacques L., Bernier, Francois P., Consortium, FOR

Journal:

Year:

2013

Language:

english

File:

PDF, 74 KB

english, 2013

22

Hippocampal Hypoplasia in Smith-Lemli-Opitz Syndrome

Grynspan, David, Michaud, Jean, Nikkel, Sarah M., Creede, Emilie, Staines, William A

Journal:

Pediatric and Developmental Pathology

Year:

2013

Language:

english

File:

PDF, 961 KB

english, 2013

23

Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer

Kaurah, Pardeep, MacMillan, Andrée, Boyd, Niki, Senz, Janine, De Luca, Alessandro, Chun, Nicki, Suriano, Gianpaolo, Zaor, Sonya, Van Manen, Lori, Gilpin, Cathy, Nikkel, Sarah, Connolly-Wilson, Mary, W

Journal:

JAMA The Journal of the American Medical Association

Year:

2007

Language:

english

File:

PDF, 300 KB

english, 2007

24

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

Smith, Amanda, Bulman, Dennis E, Goldsmith, Claire, Bareke, Eric, Majewski, Jacek, Boycott, Kym M, Nikkel, Sarah M

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 439 KB

english, 2015

25

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

Racacho, Lemuel, Byrnes, Ashley M, MacDonald, Heather, Dranse, Helen J, Nikkel, Sarah M, Allanson, Judith, Rosser, Elisabeth, Underhill, T Michael, Bulman, Dennis E

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.62 MB

english, 2015

26

Dépistage des porteurs de thalassémie et d’hémoglobinopathies au Canada

Langlois, Sylvie, Ford, Jason C., Chitayat, David, Langlois, Sylvie, Chitayat, David, Désilets, Valérie A., Farrell, Sandra A., Geraghty, Michael, Nelson, Tanya, Nikkel, Sarah M., Skidmore, David, Shu

Journal:

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC

Year:

2008

Language:

french

File:

PDF, 204 KB

french, 2008

27

Carrier Screening for Thalassemia and Hemoglobinopathies in Canada

Langlois, Sylvie, Ford, Jason C., Chitayat, David, Chitayat, David, Désilets, Valerie A., Farrell, Sandra A., Geraghty, Michael, Langlois, Sylvie, Nelson, Tanya, Nikkel, Sarah M., Shugar, Andrea, Skid

Journal:

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

28

Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery

Valdez Quintana, Melissa, Michaud, Jean, El-Chaar, Darine, El Demellawy, Dina, Nikkel, Sarah M., Miller, Elka

Journal:

Child's Nervous System

Year:

2016

Language:

english

File:

PDF, 1.00 MB

english, 2016

29

The defining DNA methylation signature of Floating-Harbor Syndrome

Hood, Rebecca L., Schenkel, Laila C., Nikkel, Sarah M., Ainsworth, Peter J., Pare, Guillaume, Boycott, Kym M., Bulman, Dennis E., Sadikovic, Bekim

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.56 MB

english, 2016

30

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

Bhola, Priya T, Hartley, Taila, Bareke, Eric, Boycott, K M, MacKenzie, A E, Majewski, J, Brudno, M, Bulman, D E, Dyment, D A, Boycott, Kym M, Nikkel, Sarah M, Dyment, David A

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 385 KB

english, 2017

31

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

Malam, Faheem, Hartley, Taila, Gillespie, Meredith K., Armour, Christine M., Bariciak, Erika, Graham, Gail E., Nikkel, Sarah M., Richer, Julie, Sawyer, Sarah L., Boycott, Kym M., Dyment, David A.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 370 KB

english, 2017

32

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

Bourque, Danielle K., Hartley, Taila, Nikkel, Sarah M., Pohl, Daniela, Tétreault, Martine, Kernohan, Kristin D., Dyment, David A.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.29 MB

english, 2017

33

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome

Balci, Tugce B., Davila, Jorge, Lewis, Denice, Boafo, Addo, Sell, Erick, Richer, Julie, Nikkel, Sarah M., Armour, Christine M., Tomiak, Eva, Lines, Matthew A., Sawyer, Sarah L.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2017

Language:

english

File:

PDF, 981 KB

english, 2017

34

MG-132 Next-generation sequencing in the neonatal intensive care unit: Pilot data from 12 newborns

Daoud, Hussein, Luco, Stephanie M, Li, Rui, Armour, Christine, Carson, Nancy, Jarinova, Olga, Nikkel, Sarah, Richer, Julie, Majewski, Jacek, Boycott, Kym, Dyment, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

35

Unpacking the Heterogeneity of Cognitive Functioning in Children and Adolescents with Fetal Alcohol Spectrum Disorder: Determining the Role of Moderators and Strengths

McLachlan, Kaitlyn, Paolozza, Angelina, Kully-Martens, Katrina, Portales-Casamar, Elodie, Pavlidis, Paul, Andrew, Gail, Hanlon-Dearman, Ana, Loock, Christine, McFarlane, Audrey, Nikkel, Sarah M., Pei,

Journal:

Advances in Neurodevelopmental Disorders

Year:

2017

Language:

english

File:

PDF, 589 KB

english, 2017

36

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

Kernohan, Kristin D., Hartley, Taila, Naumenko, Sergey, Armour, Christine M., Graham, Gail E., Nikkel, Sarah M., Lines, Matthew, Geraghty, Michael T., Richer, Julie, Mears, Wendy, Boycott, Kym M., Dym

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 384 KB

english, 2018

37

Microarray results as an indicator of sexual abuse

Russell, Vanessa, Nikkel, Sarah M, Ward, Michelle G K

Journal:

Paediatrics & child health

Year:

2019

Language:

english

File:

PDF, 100 KB

english, 2019