Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
American Journal of Human Genetics
Xu, M. and Xie, Y.A. and Abouzeid, H. and Gordon, C.T. and Fiorentino, A. and Sun, Z. and Lehman, A. and Osman, I.S. and Dharmat, R. and Riveiro-Alvarez, R. and Bapst-Wicht, L. and Babino, D. and Arno, G. and Busetto, V. and Zhao, L. and Li, H. and Lopez-Martinez, M.A. and Azevedo, L.F. and Hubert, L. and Pontikos, N. and Eblimit, A. and Lorda-Sanchez, I. and Kheir, V. and Plagnol, V. and Oufadem, M. and Soens, Z.T. and Yang, L. and Bole-Feysot, C. and Pfundt, R. and Allaman-Pillet, N. and Nitschké, P. and Cheetham, M.E. and Lyonnet, S. and Agrawal, S.A. and Li, H. and Pinton, G. and Michaelides, M. and Besmond, C. and Li, Y. and Yuan, Z. and von Lintig, J. and Webster, A.R. and Le Hir, H. and Stoilov, P. and Black, G. and Hall, G. and Gillespie, R. and Ramsden, S. and Manson, F. and Sergouniotis, P. and Inglehearn, C. and Toomes, C. and Ali, M. and McKibbin, M. and Poulter, J. and Lord, E. and Nemeth, A. and Halford, S. and Downes, S. and Yu, J. and Amiel, J. and Hardcastle, A.J. and Ayuso, C. and Sui, R. and Chen, R. and Allikmets, R. and Schorderet, D.F.
DOI: 10.1016/j.ajhg.2017.02.008
2017

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
JCI Insight
Hani Bagheri and Chansonette Badduke and Ying Qiao and Rita Colnaghi and Iga Abramowicz and Diana Alcantara and Christopher Dunham and Jiadi Wen and Robert S. Wildin and Malgorzata J.M. Nowaczyk and Jennifer Eichmeyer and Anna Lehman and Bruno Maranda and Sally Martell and Xianghong Shan and Suzanne M.E. Lewis and Mark O’Driscoll and Cheryl Y. Gregory-Evans and Evica Rajcan-Separovic
DOI: 10.1172/jci.insight.85461
03/2016

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation
Canadian Journal of Cardiology
Janzen, M.L. and Cheung, C. and Sanatani, S. and Cunningham, T. and Kerr, C. and Steinberg, C. and Sherwin, E. and Arbour, L. and Deyell, M.W. and Andrade, J.G. and Lehman, A.M. and Gula, L.J. and Krahn, A.D.
DOI: 10.1016/j.cjca.2016.12.009
2016

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
American Journal of Human Genetics
Bennett, J.T. and Tan, T.Y. and Alcantara, D. and Tétrault, M. and Timms, A.E. and Jensen, D. and Collins, S. and Nowaczyk, M.J.M. and Lindhurst, M.J. and Christensen, K.M. and Braddock, S.R. and Brandling-Bennett, H. and Hennekam, R.C.M. and Chung, B. and Lehman, A. and Su, J. and Ng, S. and Amor, D.J. and Majewski, J. and Biesecker, L.G. and Boycott, K.M. and Dobyns, W.B. and O'Driscoll, M. and Moog, U. and McDonell, L.M.
DOI: 10.1016/j.ajhg.2016.02.006
2016

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice
Journal of Genetic Counseling
Leach, E. and Morris, E. and White, H.J. and Inglis, A. and Lehman, A. and Austin, J.
DOI: 10.1007/s10897-016-9961-x
2016

Etiologies of uterine malformations
American Journal of Medical Genetics, Part A
Jacquinet, A. and Millar, D. and Lehman, A.
DOI: 10.1002/ajmg.a.37775
2016

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drögemöller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792
2016

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Orphanet Journal of Rare Diseases
Maduro, V. and Pusey, B.N. and Cherukuri, P.F. and Atkins, P. and Du Souich, C. and Rupps, R. and Limbos, M. and Adams, D.R. and Bhatt, S.S. and Eydoux, P. and Links, A.E. and Lehman, A. and Malicdan, M.C. and Mason, C.E. and Morimoto, M. and Mullikin, J.C. and Sear, A. and Van Karnebeek, C. and Stankiewicz, P. and Gahl, W.A. and Toro, C. and Boerkoel, C.F.
DOI: 10.1186/s13023-016-0439-6
2016

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Birch, P. and Adam, S. and Bansback, N. and Coe, R.R. and Hicklin, J. and Lehman, A. and Li, K.C. and Friedman, J.M.
DOI: 10.1007/s10897-016-9971-8
2016

MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect
J Med Genet
Anna Lehman and Edward Tseng and Michelle Ning and Zheyuan Zong and Seong-Hwan Jun
DOI: 10.1136/jmedgenet-2015-103577.30
11/2015

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
American Journal of Human Genetics
Meester, J.A.N. and Southgate, L. and Stittrich, A.-B. and Venselaar, H. and Beekmans, S.J.A. and Den Hollander, N. and Bijlsma, E.K. and Helderman-Van Den Enden, A. and Verheij, J.B.G.M. and Glusman, G. and Roach, J.C. and Lehman, A. and Patel, M.S. and De Vries, B.B.A. and Ruivenkamp, C. and Itin, P. and Prescott, K. and Clarke, S. and Trembath, R. and Zenker, M. and Sukalo, M. and Van Laer, L. and Loeys, B. and Wuyts, W.
DOI: 10.1016/j.ajhg.2015.07.015
2015

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)
Lung
Payandeh, J. and McGillivray, B. and McCauley, G. and Wilcox, P. and Swiston, J.R. and Lehman, A.
DOI: 10.1007/s00408-015-9757-z
2015

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis
Journal of Human Genetics
Zong, Z. and Tees, S. and Miyanji, F. and Fauth, C. and Reilly, C. and Lopez, E. and Tredwell, S. and Paul Goldberg, Y. and Delaney, A. and Eydoux, P. and Van Allen, M. and Lehman, A.
DOI: 10.1038/jhg.2015.116
2015

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood
American Journal of Human Genetics
Van Karnebeek, C.D. and Sly, W.S. and Ross, C.J. and Salvarinova, R. and Yaplito-Lee, J. and Santra, S. and Shyr, C. and Horvath, G.A. and Eydoux, P. and Lehman, A.M. and Bernard, V. and Newlove, T. and Ukpeh, H. and Chakrapani, A. and Preece, M.A. and Ball, S. and Pitt, J. and Vallance, H.D. and Coulter-Mackie, M. and Nguyen, H. and Zhang, L.-H. and Bhavsar, A.P. and Sinclair, G. and Waheed, A. and Wasserman, W.W. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ajhg.2014.01.006
2014

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia
Ultrasound in Obstetrics and Gynecology
Pugash, D. and Lehman, A.M. and Langlois, S.
DOI: 10.1002/uog.13359
2014

Mutations in NOTCH1 cause Adams-Oliver syndrome.
American journal of human genetics
Stittrich, A.B. and Lehman, A. and Bodian, D.L. and Ashworth, J. and Zong, Z. and Li, H. and Lam, P. and Khromykh, A. and Iyer, R.K. and Vockley, J.G. and Baveja, R. and Silva, E.S. and Dixon, J. and Leon, E.L. and Solomon, B.D. and Glusman, G. and Niederhuber, J.E. and Roach, J.C. and Patel, M.S.
DOI: 10.1016/j.ajhg.2014.07.011
2014

Corneal findings in Parry-Romberg syndrome
Canadian Journal of Ophthalmology
Moloney, G. and Lehman, A. and Shojania, K. and Ross, M. and McCarthy, M.
DOI: 10.1016/j.jcjo.2013.09.010
2014

Evidence of ancillary trigeminal innervation of levator palpebrae in the general population
Journal of Clinical Neuroscience
Lehman, A.M. and Dong, C.C. and Harries, A.M. and Patel, A. and Honey, C.R. and Patel, M.S.
DOI: 10.1016/j.jocn.2013.03.029
2014

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain
American Journal of Medical Genetics, Part A
Lehman, A.M. and Cowan, J.R. and Mcfadden, D.E. and Patel, M.S.
DOI: 10.1002/ajmg.a.36529
2014

Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- Palate
Archives of Disease in Childhood: Fetal and Neonatal Edition
Burnell, L. and Verchere, C. and Pugash, D. and Loock, C. and Robertson, S. and Lehman, A.
DOI: 10.1136/archdischild-2013-305390
2014

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations
American Journal of Medical Genetics, Part A
Lehman, A. and Stittrich, A.-B. and Glusman, G. and Zong, Z. and Li, H. and Eydoux, P. and Senger, C. and Lyons, C. and Roach, J.C. and Patel, M.
DOI: 10.1002/ajmg.a.36685
2014

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
Brain
G. V. Harlalka and A. Lehman and B. Chioza and E. L. Baple and R. Maroofian and H. Cross and A. Sreekantan-Nair and D. A. Priestman and S. Al-Turki and M. E. McEntagart and C. Proukakis and L. Royle and R. P. Kozak and L. Bastaki and M. Patton and K. Wagner and R. Coblentz and J. Price and M. Mezei and K. Schlade-Bartusiak and F. M. Platt and M. E. Hurles and A. H. Crosby
DOI: 10.1093/brain/awt270
10/2013

Treatable inborn errors of metabolism causing neurological symptoms in adults
Molecular Genetics and Metabolism
Sirrs, S.M. and Lehman, A. and Stockler, S. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2013.10.002
2013

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Brain : a journal of neurology
Harlalka, G.V. and Lehman, A. and Chioza, B. and Baple, E.L. and Maroofian, R. and Cross, H. and Sreekantan-Nair, A. and Priestman, D.A. and Al-Turki, S. and McEntagart, M.E. and Proukakis, C. and Royle, L. and Kozak, R.P. and Bastaki, L. and Patton, M. and Wagner, K. and Coblentz, R. and Price, J. and Mezei, M. and Schlade-Bartusiak, K. and Platt, F.M. and Hurles, M.E. and Crosby, A.H.
2013

Fetal progeria: Prenatal sonographic findings in petty syndrome
Journal of Ultrasound in Medicine
Pugash, D. and Schrader, K.A. and Dunham, C.P. and Popescu, O.-E. and Sargent, M.A. and Lehman, A.M. and Yong, S.L. and Clarke, L.A.
DOI: 10.7863/ultra.32.5.881
2013

Defects in the IFT-B component IFT172 cause jeune and mainzer-saldino syndromes in humans
American Journal of Human Genetics
Halbritter, J. and Bizet, A.A. and Schmidts, M. and Porath, J.D. and Braun, D.A. and Gee, H.Y. and McInerney-Leo, A.M. and Krug, P. and Filhol, E. and Davis, E.E. and Airik, R. and Czarnecki, P.G. and Lehman, A.M. and Trnka, P. and Nitschké, P. and Bole-Feysot, C. and Schueler, M. and Knebelmann, B. and Burtey, S. and Szabó, A.J. and Tory, K. and Leo, P.J. and Gardiner, B. and McKenzie, F.A. and Zankl, A. and Brown, M.A. and Hartley, J.L. and Maher, E.R. and Li, C. and Leroux, M.R. and Scambler, P.J. and Zhan, S.H. and Jones, S.J. and Kayserili, H. and Tuysuz, B. and Moorani, K.N. and Constantinescu, A. and Krantz, I.D. and Kaplan, B.S. and Shah, J.V. and Hurd, T.W. and Doherty, D. and Katsanis, N. and Duncan, E.L. and Otto, E.A. and Beales, P.L. and Mitchison, H.M. and Saunier, S. and Hildebrandt, F.
DOI: 10.1016/j.ajhg.2013.09.012
2013

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression
Clinical Genetics
Lehman, A.M. and Du Souich, C. and Chai, D. and Eydoux, P. and Huang, J.L. and Fok, A.K. and Avila, L. and Swingland, J. and Delaney, A.D. and McGillivray, B. and Goldowitz, D. and Argiropoulos, B. and Kobor, M.S. and Boerkoel, C.F.
DOI: 10.1111/j.1399-0004.2010.01615.x
2012

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly
Molecular Genetics and Metabolism
Lehman, A. and Mattman, A. and Sin, D. and Pare, P. and Zong, Z. and d'Azzo, A. and Campos, Y. and Sirrs, S. and Hinek, A.
DOI: 10.1016/j.ymgme.2012.02.004
2012

Child neurology: Krabbe disease : A potentially treatable white matter disorder
Neurology
Gelinas, J. and Liao, P. and Lehman, A. and Stockler, S. and Sirrs, S.
DOI: 10.1212/WNL.0b013e3182735c8b
2012

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
American Journal of Medical Genetics, Part A
Lehman, A.M. and Eydoux, P. and Doherty, D. and Glass, I.A. and Chitayat, D. and Chung, B.Y.H. and Langlois, S. and Yong, S.L. and Lowry, R.B. and Hildebrandt, F. and Trnka, P.
DOI: 10.1002/ajmg.a.33416
2010

Intracranial calcification after cord blood neonatal transplantation for Krabbe disease
Neuropediatrics
Lehman, A.M. and Schultz, K.R. and Poskitt, K. and Bjornson, B. and Keyes, R. and Waters, P.J. and Clarke, L.A. and Everett, R. and McConnell, D. and Stockler, S.
DOI: 10.1055/s-0029-1243189
2009

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
European Journal of Medical Genetics
Lehman, A.M. and Friedman, J.M. and Chai, D. and Zahir, F.R. and Marra, M.A. and Prisman, L. and Tsang, E. and Eydoux, P. and Armstrong, L.
DOI: 10.1016/j.ejmg.2009.09.006
2009

Childhood-onset hemiatrophy caused by unilateral morphea
Clinical Dysmorphology
Lehman, A.M. and Patel, M.S.
DOI: 10.1097/MCD.0b013e32832a9e0c
2009

OCRL1 mutations in dent 2 patients suggest a mechanism for phenotypic variability
Nephron - Physiology
Shrimpton, A.E. and Hoopes Jr., R.R. and Knohl, S.J. and Hueber, P. and Reed, A.A.C. and Christie, P.T. and Igarashi, T. and Lee, P. and Lehman, A. and White, C. and Milford, D.V. and Sanchez, M.R. and Unwin, R. and Wrong, O.M. and Thakker, R.V. and Scheinman, S.J.
DOI: 10.1159/000213506
2009

Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
American Journal of Medical Genetics, Part A
Lehman, A.M. and McFadden, D. and Pugash, D. and Sangha, K. and Gibson, W.T. and Patel, M.S.
DOI: 10.1002/ajmg.a.32277
2008

Causal attributions, perceived control, and psychological adjustment: A study of chronic fatigue syndrome
Journal of Applied Social Psychology
White, K. and Lehman, D.R. and Hemphill, K.J. and Mandel, D.R. and Lehman, A.M.
DOI: 10.1111/j.0021-9029.2006.00004.x
2006

Transcriptional Regulation of BACE1, the ß-Amyloid Precursor Protein ß-Secretase, by Sp1
Molecular and Cellular Biology
Christensen, M.A. and Zhou, W. and Qing, H. and Lehman, A. and Philipsen, S. and Song, W.
DOI: 10.1128/MCB.24.2.865-874.2004
2004

Illness experience, depression, and anxiety in chronic fatigue syndrome
Journal of Psychosomatic Research
Lehman, A.M. and Lehman, D.R. and Hemphill, K.J. and Mandel, D.R. and Cooper, L.M.
DOI: 10.1016/S0022-3999(02)00318-5
2002