Baple, Emma L: search on Z-Library

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1

Reply: PRUNE1: a disease-causing gene for secondary microcephaly

Baple, Emma L, Houlden, Henry, Zollo, Massimo, Crosby, Andrew H

Journal:

Year:

2017

Language:

english

File:

PDF, 149 KB

english, 2017

2

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Turnbull, Clare, Scott, Richard H, Thomas, Ellen, Jones, Louise, Murugaesu, Nirupa, Pretty, Freya Boardman, Halai, Dina, Baple, Emma, Craig, Clare, Hamblin, Angela, Henderson, Shirley, Patch, Christin

Journal:

Year:

2018

Language:

english

File:

PDF, 2.12 MB

english, 2018

3

In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family

Mehmood, Sarmad, Harlalka, Gaurav V., Dad, Rubina, Chioza, Barry A., Ullah, Muhammad I., Ahmad, Arsalan, Crosby, Andrew H., Baple, Emma L., Hassan, Muhammad J.

Journal:

Year:

2019

Language:

english

File:

PDF, 6.51 MB

english, 2019

4

A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE)

Mansour, Sahar, Baple, Emma, Hall, Christine M

Journal:

The Journal of Hand Surgery (Asian-Pacific Volume)

Year:

2018

Language:

english

File:

PDF, 576 KB

english, 2018

5

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

Wilson, Rosemary H.C., Biasutto, Antonio J., Wang, Lihao, Fischer, Roman, Baple, Emma L., Crosby, Andrew H., Mancini, Erika J., Green, Catherine M.

Journal:

Year:

2017

Language:

english

File:

PDF, 3.90 MB

english, 2017

6

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Si

Journal:

Human Molecular Genetics

Year:

2019

Language:

english

File:

PDF, 758 KB

english, 2019

7

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 247 KB

english, 2016

8

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

9

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 2.29 MB

2020

10

PCNA mutation affects DNA repair not replication

Green, Catherine M, Baple, Emma L, Crosby, Andrew H

Journal:

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

11

Lipid metabolic pathways converge in motor neuron degenerative diseases

Rickman, Olivia J, Baple, Emma L, Crosby, Andrew H

Journal:

Year:

2019

File:

PDF, 683 KB

2019

12

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma

Journal:

BMC Medical Genetics

Year:

2019

File:

PDF, 917 KB

2019

13

Virus recognition by specific natural antibodies and complement results in MHC I cross-presentation

Antoine Dürrbach, Emma Baple, Andrew F. Preece, Bernard Charpentier, Kenth Gustafsson

Journal:

European Journal of Immunology

Year:

2007

Language:

english

File:

PDF, 388 KB

english, 2007

14

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion

Tovy, Ayala, Reyes, Jaime M., Gundry, Michael C., Brunetti, Lorenzo, Lee-Six, Henry, Petljak, Mia, Park, Hyun Jung, Guzman, Anna G., Rosas, Carina, Jeffries, Aaron R., Baple, Emma, Mill, Jonathan, Cro

Journal:

Year:

2020

File:

PDF, 6.23 MB

2020

15

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex driven autophagosome remodeling pathway

Mathiowetz, Alyssa J, Baple, Emma, Russo, Ashley J, Coulter, Alyssa M, Carrano, Eric, Brown, Judith D, Jinks, Robert N, Crosby, Andrew H, Campellone, Kenneth G, Pollard, Thomas Dean

Journal:

Molecular Biology of the Cell

Year:

2017

Language:

english

File:

PDF, 1.45 MB

english, 2017

16

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fon

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 609 KB

english, 2018

17

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

Iype, Thomas, Alakbarzade, Vafa, Iype, Mary, Singh, Royana, Sreekantan-Nair, Ajith, Chioza, Barry A., Mohapatra, Tribhuvan M., Baple, Emma L., Patton, Michael A., Warner, Thomas T., Proukakis, Christo

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 988 KB

english, 2015

18

Single-base substitutions in the CHM promoter as a cause of choroideremia

Radziwon, Alina, Arno, Gavin, K. Wheaton, Dianna, McDonagh, Ellen M., Baple, Emma L., Webb-Jones, Kaylie, G. Birch, David, Webster, Andrew R., MacDonald, Ian M.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.92 MB

english, 2017

19

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 558 KB

english, 2013

20

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

Rebecca L. Poole, Emma Baple, John A. Crolla, I. Karen Temple, Deborah J.G. Mackay

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

21

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

22

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M.,

Journal:

Year:

2015

Language:

english

File:

PDF, 2.51 MB

english, 2015

23

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby,

Journal:

Year:

2019

Language:

english

File:

PDF, 1.44 MB

english, 2019

24

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606AÂ >Â G (p.Asn536Asp) variant propionic acidemia

Wenger, Olivia, Brown, Miraides, Smith, Brandon, Chowdhury, Devyani, Crosby, Andrew H., Baple, Emma L., Yoder, Mark, Laxen, William, Tortorelli, Silvia, Strauss, Kevin A.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 4.89 MB

2020

25

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra Q Y, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

26

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

O’Gorman, Luke, Norman, Chelsea S., Michaels, Luke, Newall, Tutte, Crosby, Andrew H., Mattocks, Christopher, Cree, Angela J., Lotery, Andrew J., Baple, Emma L., Ratnayaka, J. Arjuna, Baralle, Diana, L

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.91 MB

english, 2019

27

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patt

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

28

A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism

Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Ampong, Isaac, Gao, Dan, Baple, Emma L., Dias, Irundika HK., Crosby, Andrew H., Griffiths, Helen R.

Journal:

Year:

2020

File:

PDF, 3.10 MB

2020

29

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 917 KB

english, 2019

30

An atypical case of hypomethylation at multiple imprinted loci

Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 230 KB

english, 2011

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