Anna Lehman

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A

Emilie T. Thberge and Bo Sun and Ruiwu Wang and Arezoo Mohajeri and Clara D. M. Van Karnebeek and Cornelius F. Boerkoel and Stephanie Huynh and Gabriella Horvath and S. R. Wayne Chen and Anna Lehman

02 / 2026

The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases

Genetics in Medicine

Morgan Ehman and Kartik Sharma and Deirdre Weymann and Tatiana Maroilley and Arezoo Mohajeri and Anna Lehman and Maja Tarailo-Graovac and Steven J.M. Jones and Marco A. Marra and Wyeth W. Wasserman and Nadine R. Caron and Laura Arbour and Dean A. Regier

11 / 2025

Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease

JACC: Case Reports

Emilie Thberge and Jillianne Code and John K. Khoo and Chi Lai and Andrew Ignaszewski and Sean Virani and Mustafa Toma and Thomas M. Roston and Tara Sedlak and Anna Lehman

08 / 2025

Immune Dysregulation in a Child With SOD1-Related Neurological Disease

American Journal of Medical Genetics Part A

Rozlyn Claire Thomas Boutin and Farzaneh Shobeirian and Shelin Adam and Anna Lehman and Ramona Salvarinova and Jan M Friedman

04 / 2025

Diabetes Mellitus Associated with Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype

Diabetes

Jean-Pierre Chanoine and David M Thompson and Anna Lehman

11 / 2024

Stroke rates, risk factors, and aspirin prescribing trends in the Canadian Fabry Disease Initiative cohort

Emilie T. Thberge and Caroline Selvage and Anita Thomas and Kaye M. LeMoine and Rebecca Robichaud and Lily Zhou and Darwin F. Yeung and Michael L. West and Sandra Sirrs and Anna Lehman

07 / 2024

DIP2BCGG repeat expansion in siblings with neurodevelopmental disability and progressive movement disorder

Emilie T. Thberge and Kate Durbano and Diane Demailly and Sophie Huby and Arezoo Mohajeri and Clara van Karnebeek and Gabriella A. Horvath and Karen Usdin and Anna Lehman and Laura Cif and Phillip A. Richmond

06 / 2024

Fabry Disease Biomarkers in Patients Switched From Enzyme-Replacement Therapy to Migalastat Oral Chaperone Therapy

Bioanalysis

Christiane Auray-Blais and Pamela Lavoie and Tristan Martineau and Georges Kabala Ntumba and Mohamed Gamrani and Aneal Khan and Gheona Altarescu and Anna Lehman and Ozlem Goker-Alpan and Albina Nowak and Michael L West and Daniel G Bichet

12 / 2023

New developmental syndromes: Understanding the family experience

Journal of Genetic Counseling

Cara N. Inglese and Alison M. Elliott and Anna Lehman

04 / 2019

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

American Journal of Human Genetics

Sleven, H. and Welsh, S.J. and Yu, J. and Churchill, M.E.A. and Wright, C.F. and Henderson, A. and Horvath, R. and Rankin, J. and Vogt, J. and Magee, A. and McConnell, V. and Green, A. and King, M.D. and Cox, H. and Armstrong, L. and Lehman, A. and Nelson, T.N. and Williams, J. and Clouston, P. and Hagman, J. and Nmeth, A.H.

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia

Journal of Electrocardiology

Roston, T.M. and Guo, W. and Krahn, A.D. and Wang, R. and Van Petegem, F. and Sanatani, S. and Chen, S.R.W. and Lehman, A.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

American Journal of Human Genetics

Yan, K. and Rousseau, J. and Littlejohn, R.O. and Kiss, C. and Lehman, A. and Rosenfeld, J.A. and Stumpel, C.T.R. and Stegmann, A.P.A. and Robak, L. and Scaglia, F. and Nguyen, T.T.M. and Fu, H. and Ajeawung, N.F. and Camurri, M.V. and Li, L. and Gardham, A. and Panis, B. and Almannai, M. and Sacoto, M.J.G. and Baskin, B. and Ruivenkamp, C. and Xia, F. and Bi, W. and Cho, M.T. and Potjer, T.P. and Santen, G.W.E. and Parker, M.J. and Canham, N. and McKinnon, M. and Potocki, L. and MacKenzie, J.J. and Roeder, E.R. and Campeau, P.M. and Yang, X.-J.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

American Journal of Human Genetics

Lehman, Anna and Thouta, Samrat and Mancini, Grazia M. S. and Naidu, Sakkubai and van Slegtenhorst, Marjon and McWalter, Kirsty and Person, Richard and Mwenifumbo, Jill and Salvarinova, Ramona and Guella, Ilaria and McKenzie, Marna B. and Datta, Anita and Connolly, Mary B. and Kalkhoran, Somayeh Mojard and Poburko, Damon and Friedman, Jan M. and Farrer, Matthew J. and Demos, Michelle and Desai, Sonal and Claydon, Thomas and CAUSES Study and EPGEN Study

Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1

JIMD Reports

Evelyn M. Wong and Anna Lehman and Philip Acott and Jane Gillis and Daniel L. Metzger and Sandra Sirrs

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

Journal of Genetic Counseling

Predham, S. and Hathaway, J. and Hulait, G. and Arbour, L. and Lehman, A.

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 Nitschk, 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.

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 ODriscoll and Cheryl Y. Gregory-Evans and Evica Rajcan-Separovic

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.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

American Journal of Human Genetics

Bennett, J.T. and Tan, T.Y. and Alcantara, D. and Ttrault, 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.

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.

Etiologies of uterine malformations

American Journal of Medical Genetics, Part A

Jacquinet, A. and Millar, D. and Lehman, A.

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 Drgemller, 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.

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.

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.

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

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.

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.

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.

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.

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.

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.

Corneal findings in Parry-Romberg syndrome

Canadian Journal of Ophthalmology

Moloney, G. and Lehman, A. and Shojania, K. and Ross, M. and McCarthy, M.

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.

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.

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.

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.

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

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.

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.

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.

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 Nitschk, P. and Bole-Feysot, C. and Schueler, M. and Knebelmann, B. and Burtey, S. and Szab, 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.

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.

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.

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.

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.

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.

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.

Childhood-onset hemiatrophy caused by unilateral morphea

Clinical Dysmorphology

Lehman, A.M. and Patel, M.S.

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.

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.

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.

Transcriptional Regulation of BACE1, the -Amyloid Precursor Protein -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.

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.